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IB Biology Study Notes

Unit 1 Cells 1.1

Living Organisms are composed of cells, they are the smallest unit of life, they

come from pre existing cells. A virus is a non-cellular structure consisting of DNA or RNA surrounded by a protein coat. Advantages of Light


Advantages of !lectron


!nables user to see larger structures

agnifies over *++,+++x Resolving po"er for biological specimen

"ithin eu#aryotes and distinguish individual pro#aryotes. $hey are user-friendly% small, portable,

around ,nm --D vie" instead of one. .nterior vie" 'ee organelles than cannot be observed

easily-prepared slides, relatively cheap to buy and maintain. &oth living and dead material may be

"/ light microscope

vie"ed. aterial is rarely distorted by

preparation. $hic#er materials may be vie"ed Allo"s experimenter to vie" image

directly. Allo"s for specimen to be observed in

natural state. 'lides are simple to prepare (aster )olor )an observe movement.

An organelle is a discrete structure "ithin a cell, and has a specific function embrane $hic#ness 0 , nm 1iruses 0 ,++ nm &acteria 0 ,um Organelles 0 up to ,+ um ost cells 0 up to ,++ um 'urface area to volume ratio 0 as the si2e increases the ratio decreases, thus decreases the rate of exchange.
3nicellular organisms carry out all of the functions of life, including metabolism,

response, homeostasis, gro"th, reproduction and nutrition.


4ro#aryote 0 a cell that lac#s any membrane bound organelles. 4ro#aryotes belong to their o"n #ingdom, bacteria. )ell 5all 0 6ives cell it7s shape, protects the cell and prevents the cell from absorbing too much "ater Ribosomes 0 small granules found in all cells. ade of RNA and protein, they are important in protein synthesis. 4roduce protein for use inside cells

'lime/)apsule 0 surrounds the cell "all of bacteria, it helps to #eep the cell from being digested or drying out. (lagellum 0 An organelle that propels a cell 4lasma embrane 0 )ontrols the movement of things in and out of the cell. 4rotects organelles inside from the outside environment. ade of phospholipids 4ro#aryotic cells divide by binary fission


N:Nucleus PM: plasma membrane M: mitochondria rER: Rough endoplasmic reticulum GA: Golgi apparatus L: Lysosome MV: Microvilli

see 2 ! 2 "orm "unctions o" the cell components

2.3.2 Annotate the diagram from 2.3.1 with the functions of each named structure.
Nucleus: #his is the largest o" the organelles #he nucleus contains the chromosomes $hich during interphase are to be "ound the nucleolus

#he nucleus has a double membrane $ith pores%NP& #he nucleus controls the cells "unctions through the e'pression o" genes (ome cells are multi nucleated such as the muscle "ibre

Plasma membrane: controls $hich substances can enter and e'it a cell )t is a "luid structure that can radically change shape see 2 *

#he membrane is a double layer o" $ater repellant molecules Receptors in the outer sur"ace detect signals to the cell and relay these to the interior #he membrane has pores that run through the $ater repellant layer called channel proteins

Mitochondria: location o" aerobic respiration and a ma+ot synthesis o" A#P region

number o" mitochondria

,ouble membrane organelle )nner membrane has "olds called cristae #his is the site o" o'idative phosphorylation -entre o" the structure is called the matri' and is the location o" the .rebs cycle /'ygen is consumed in the synthesis o" A#P on the inner membrane #he more active a cell the greater the

Rough endoplasmic reticulum %rER&: protein synthesis and pac0aging into vesicles rER "orm a net$or0 o" tubules $ith a ma1e li0e structure cell )n general these run a$ay "rom the nucleus #he 2rough2 on the reticulum is caused by the presence o" ribosomes Proteins made here are secreted out o" the

Ribosomes: the "ree ribosome produces proteins "or internal use $ithin the cell

Golgi apparatus: modi"ication o" proteins prior to secretion

proteins "or secretion are modi"ied possible addition o" carbohydrate or lipid components to protein pac0aged into vesicles "or secretion

Lysozyme: Vesicles in the above diagram that have "ormed on the golgi apparatus -ontaining hydrolytic en1ymes 3unctions include the digestion o" old organelles4 engul"ed bacteria and viruses


2.3.3 Identify structures from 2.3.1 in electron micrographs of liver cells.(2)

)denti"y: #o "ind an ans$er "rom a given number o" possibilities #o identi"y structures $ithin an electron micrograph it is necessary to 0no$ the scale at $hich the image has been ta0en Loo0 around the image to "ind the nucleus and then the

mitochondria )n a plant cell there $ill also be the cell $all4 chloroplasts and the vacuole to identi"y Nucleus: )n an electron micrograph the nucleus $ill be the largest o" the organelles )n this image there is a dar0 stained region called the nucleolus $hich is the location o" the ,NA #he membrane has pores $hich allo$ the entry o" cell signal molecules4 nucleotides and the e'it o" mRNA Generally the nucleus appears spherical ho$ever there are cells in $hich the nucleus has more unusual shape such as the multi5lobbed $hite blood cells

Plasma membrane:

#his image sho$s the +unction bet$een t$o liver cells #he image has been manipulated "or clarity to see the t$o ad+oining plasma membranes Notice the mitochondria to the le"t and the rER to the right o" the membranes

Mitochondria: #his micrograph o" a mitochondria sho$s: ,ouble outer membrane 3olded inner membrane called the cristae Matri' o" the mitochondria

#hese "eatures are common to all mitochondria Notice the rER above the mitochondria "or scale and the dar0 granules o" glycogen belo$ the organelle

Endoplasmic reticulum (rER). #he rER runs vertical in the image Note the dar0 spots $hich are the ribosomes A cell $ith a great deal o" rER is producing proteins "or secretion outside o" the cell #he net$or0 o" endoplasmic tubules allo$s proteins to be moved around $ithin the cytoplasm be"ore "inal pac0aging and secretion

Golgi apparatus: #he golgi apparatus in the diagram "orms a stac0 o" membrane envelopes on top o" each other Vesicles containing proteins "use $ith the structure #he proteins are modi"ied inside the apparatus usually $ith the addition o" non5protein substances

Lysozyme: simple membrane bound vesicle containing hydrolytic en1ymes produced in the golgi apparatus used to digest engul"ed bacteria or viruses or old organelles

used to digest macromolecules hydrolytic en1ymes are retained $ithin the vesicle membrane to prevent autodigestion o" the cell

2.3.4 Comparison of pro aryotic and eu aryotic cells (3).


Diffusion% passive movement of particles from a region of high concentration to a region of lo" concentration. Osmosis is the passive movement of "ater molecules from regions of lo"er solute concentration to a region of higher solute concentration 2.!.1 "utline the stages in the cell cycle# including interphase ($1# %# $ 2)# mitosis and cyto inesis (2).
outline means to give a brie" summary #he cell cycle describes the ma+or phases o" activity in the division o" a cell #he length o" the cell cycle depends on the particular "unction o" the cell 3or e'ample bacterial cells can divide every !6 minutes under suitable conditions4 s0in cells divide about every 72 hours on average4 liver cells every 2 years4 and muscle cells never divide at all a"ter maturing. #he total length o" a cell cycle varies depending on the specialised "unction o" a cell )nterphase %grey& is the longest phase $hich itsel" occurs in three stages G7 #he cell per"orms its normal di""erentiated "unction Protein

synthesis8 mitochondria replication8 chloroplast replication ( ,NA replication At this point the mass o" ,NA in the cell has doubled G2 Preparation "or cell division Phases o" mitosis %see 2 9 *& -yto0inesis: division o" the cytoplasm to "orm t$o daughter cells

An appreciation o" mitosis only comes $hen you have studied the structure o" nucleic acids4 ,NA replication and some gene e'pression At that point you $ill understand better the signi"icance o" the ( phase: ,NA replication

2.!.2 %tate that tumours (cancers) are the result of uncontrolled cell division and that these can occur in any organ or tissue(1)
calculation (tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or 'Tumours are not foreign invaders. They arise from the same material used by the body to construct its own tissues. Tumours use the same components -human cells- to form the jumbled masses that disrupt biological order and function and, if left unchecked, to bring the whole complex, life sustaining edifice that is the human body crashing down'. R ;einberg4 R %7<<=& One enegade !ell. London:Phoeni'4 (cience Masters (eries

'!ancer is, in essence a genetic disease2 Volgestein and .in1ler

#umours %cancers& are a cell mass "ormed as a result o" uncontrolled cell division #hey can occur in any tissue (tomach cancer

Not on the syllabus and ust !or interest -ells are normally in state o" repressed mitosis #he de"ault condition is "or the cell to progress into mitosis and cyto0inesis )n a tumour something happens %mutation to the proto5oncogene& to release the repression o" cell division #here appear to be atleast t$o groups o" genes $hich are important in the "ormation o" tumours: a& /ncogenes4 $hich i" accidentally or inappropriately activated increase the ris0 o" tumour "ormation b& #umour (uppressor genes %#(G& $hich as the name suggests normally are actively suppressing tumours )" these are s$itched o"" by a mutation then the suppression is lost

E"olution o! #ancer:

$. Multi step carcinogenisis: -ancers do not arise as invasive malignant metastatic %spreading& tumours Rather they "ollo$ a series o" steps that begins $ith a contained benign gro$th A cell $ill eventually arise $ithin the benign mass $hich is more aggressive in its gro$th rate and $ith a tendency to invade surrounding tissue #hese cells have a selective advantage and $ill become the dominant cell type $ithin the tumour #he cancer has no$ progresses to an aggressive invasive "orm )n the ne't stage a "urther mutation to a cell ma0es this cell not only aggressive and invasive but $ith a tendency to brea0 up and spread to other tissues %metastasis& #his latter tumour stage is the malignant tumour %. &ncogene acti"ation: #here are $ithin a cell many proteins that are either cell signals or control proteins $ithin the cell cycle #he proteins are coded "or by genes that are re"erred to as proto5oncogenes ;hen trans"ormed by mutagenic agents% chemicals4 radiation& they are trans"ormed %mutated& into oncogenes )t is these oncogenes that $hen e'pressed $ill cause a loss o" control o" division $ithin that cell #here is then the production o" a protein that signals the cell internally to increase the rate o" cell division (ince this gives these cells a selective advantage they become more common at the e'pense o" non5mutated cells #hese types o" genes that create trans"orm cell "unction $ere discovered as early as 7<76 '. (umour )uppressor deacti"ation An alternative or additional "eature is the idea o" tumour suppression $hich holds cell division in chec0 #he tumour suppressor could simply be a protein that inhibits the cell cycle Alternatively there are proteins that repair ,NA $hich also suppress tumour suppression by maintaining the integrity o" ,NA #here"ore the suppression is removed and the cell progresses into uncontrolled cell division #his might suggestion "rom this description there"ore is that the development o" a cancer $ill re>uire atleast t$o mutations? one o" the proto5oncogene? t$o o" the tumour suppressor -ancer e'erts its deleterious e""ect on the body by: destroying the surrounding ad+acent tissues: e g compressing nerves4 eroding blood vessels4 or causing per"oration o" organs: replacing normal "unctioning cells in distant sites: e g replacing blood "orming cells in the bone marro$4 replacing bones leading to increased calcium levels in the blood4 or in the heart muscles so that the heart!ails.

2.!.3 %tate that interphase is an active period in the life of a cell when many meta&olic reactions occur# including protein synthesis# '(A replication and an increase in the num&er of mitochondria and)or chloroplasts (1).
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation #he cell specialises to a particular "unction in a process called di""erentiation #hrough gene e'pression and protein synthesis there is a specialisation o" cell structure and "unction

,uring this interphase the cell carries out this specialist "unction #he length o" the interphase varies "rom one type o" cell to another G7 "ollo$s cyto0inesis #he cell is involved in the synthesis o" various proteins $hich allo$ the cell to specialise (5phase involves the replication o" ,NA molecules $hich ta0es place prior to the phases o" mitosis G2 preparation "or the phases o" mitosis $hich involves the replication o" mitochondria and in the case o" plants4 the chloroplast

2.!.4 'escri&e the events that occur in the four phases of mitosis (prophase# metaphase# anaphase and telophase (2).
,escribe means to give a detailed account )uper coiling: Eu0aryotic ,NA is combined $ith histone proteins and non5histone proteins to "orm chromatin #he method o" "olding o" chromatin is speci"ic to each chromosome leaving genes in predictable positions and a distinctive overall chromosome shape #he human cell has a ,NA length o" about 7 = m this has to be pac0ed into a nucleus $hich has only a 9 um diameter #his pac0aging process re>uires up to a @ 794666 reduction #his super coiling ma0es the structure so dense that it can be see $ith a light microscope during the phases o" mitosis )n this se>uence only one chromosome is illustrated so that $e can more clearly "ollo$ the process )n a human a complete diagram $ould have *A chromosomes each replicating and condensing and separating a&#he cell membrane is intact during this the interphase #he chromosomes cannot be seen during G74( and G2 b& G74;ithin the nucleus4 genes on the chromosome are being e'pressed to carry out normal cell "unction %interphase& Remember you cannot see chromosomes at this stage #he diagram has a 2see2s through2 the nuclear membrane so you can see inside )n reality it $ould loo0 +ust li0e cell a& c& (5phase in $hich ,NA replication occurs and the

chromosomes are copied #he copies called sister chromatids are held together by a protein to "orm the centromere )t is still not possible to see this happen $ith an intact cell d& Early Prophase in $hich the sister chromatids have condensed by super coiling Note the "ormation o" the spindle microtubules and their attachment to centrioles #he nuclear membrane $ill no$ brea0 do$n to reveal sister chromatids #he internal arrangements o" chromosomes can no$ be seen $ith a light microscope e& Metaphase the chromosomes arranged on the e>uator o" the cell each attached to a spindle microtubule at the centromere "& *naphase: #he spindle microtubules contract and pull apart the sister chromatids one to each pole o" the cell #he centromere splits allo$ing the sister chromatids to be separate g& (elophase: at each pole there are separate groups o" the replicated chromosomes the spindles is degenerating

h& #yto+inesis: the cell membrane begins to separate4 dividing the cell into t$o ne$ cells #he nuclear membrane is re"orming around each cell i& #$o daughter cells are "ormed #hey are genetically identical to each other and in e""ect the basis o" a clone %see 2 9 A& Notice that cell a& begins $ith one chromosome and that by step h& there are t$o cells each $ith a copy o" that chromosome As suggested by cell theory4 all cells have come "rom other cells

2.!.! *+plain how mitosis produces two genetically identical nuclei (3).
E'plain means to give a detailed account o" causes4 reasons or mechanisms #he process o" cell division produces genetically identical daughter cells -onservation o" chromosome number #he chromosome number in each o" the daughter cells is the same as that o" the original parental cell ,uring the (5phase4 each chromosome is copied e'actly #he t$o copies o" each chromosome are held together by a protein structure called a centromere #here"ore +ust prior to the beginning o" the phases o" mitosis there is actually double the number o" chromosomes present in a cell

Each chromosome in this state is represented by a pair o" sister chromatids #hese give the no$ classic cross image o" the ,NA %see image belo$&

#his pair o" sister chromatids image $as ta0en during one o" the phases o" mitosis #he t$o sister chromatids are held together at the centromere #he arms o" the chromatids are visible because o" a condensation o" the molecule called super coiling #his condenses the molecule some ' 794666 times o" its original length #he pairs o" sister chromatids is a non5random organisation #he position o" genes is predicable $ithin the structure seen here Also there is a uni>ue shape to each o" the chromosomes

Mitosis ma0es sure that each cell obtains a copy o" each o" the chromosomes in the parental cell Bo$ever4 it is the process o" ,NA replication during the (5phase that actually copies each ,NA molecules to ma0e mitosis possible

%tate that growth# em&ryonic development# tissue repair and ase+ual reproduction involve mitosis(1).
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Gro$th: multicellular organisms increase their si1e through gro$th #his gro$th involves increasing the number o" cells through mitosis #hese cells $ill di""erentiate and specialise their "unction Embryonic development is $hen the "ertilised egg cell %1ygote& divides to "orm the multicellular organism Each cell in the organisms is identical %genetically& to all the other cells Bo$ever4 each cell $ill e'press only a "e$ o" its genes to determine its overall specialisms4 a process called di""erentiation )n this $ay a stem cell may becomes a muscle4 or it may become a nerve cell or any one o" the many di""erent 0inds o" cells "ound in a comple' multicellular organism #he best boo0 about this process "or the interested reader is #issue Repair: As tissues are damaged they can recover through replacing damaged or dead cells #his is easily observed in a s0in $ound More comple' organ regeneration can occur in some species o" amphibian

Ase'ual Reproduction: #his the production o" o""spring "rom a single parent using mitosis #he o""spring are there"ore genetically identical to each other and to their CparentD5 in other $ords they are clones Ase'ual reproduction is very common in nature4 and in addition $e humans have developed some ne$4 arti"icial methods Eacteria ,/ N/# ase'ually reproduce by mitosis but rather by a process called Einary 3ission

3.2.2 Identify amino acids# glucose# ri&ose and fatty acids from diagrams showing their structure(2).
)denti"y means to "ind an ans$er "rom a given number o" possibilities #he "ollo$ing are e'amples o" the most common organic molecules in living things: Monosaccharide sugars #hese are the monomers "rom $hich larger polymer molecules are constructed Molecules li0e glucose and "ructose are metabolically active molecules usually stored in an inactive4 insoluble polysaccharide "orm

Glucose: -AB72/A this is a he'ose sugar %si' carbons& most commonly "ound in this ring structure Glucose $ill be 0no$n to most students as a product o" photosynthesis or the substrate molecule "or respiration Glucose is also "ound in a polymer as starch4 glycogen or cellulose All bonds are covalent Glucose is a reducing sugar and $ill give positive %Eric0 red& precipitate in a Eenedicts

test Glucose is metabolically active compound Glucose is soluble and has osmotic e""ects $hen in solution

#his is an alternative diagram o" glucose $here the carbons are assumed to be at each o" the corners or ends o" the lines %bonds& )n this image the carbons are numbered so you can compare to the diagram above Normally such numbers $ould be omitted "orm a diagram #hese shorthand diagrams allo$

organic molecules to be dra$n "aster #here are e'amples "urther do$n the page o" this type o" diagram

Ribose: Pentose %9 carbon sugar& Ribose is part o" one the important organic molecules in photosynthesis4 ribulose bisphosphate %RFEP& A modi"ied version o" ribose4 deo'yribose is perhaps best 0no$n "or its role in ,eo'yribonucleic acid or ,NA $here it "orms part o" the sugar phosphate bac0bone #he chemical properties o" deo'yribose are very di""erent "rom the properties o" ribulose Eoth Ribose and Glucose $ill attract $ater molecules %hydrogen bonding & to "orm solutions

top *mino *cids: #here are 26 common amino acids "ound in the protein structures o" living things Amino acids are monomers $hich combine to "orm the larger polypeptides )n turn polypeptides combine to "orm proteins Proteins molecules are the basis o" en1ymes and many cellular and e'tra cellular components

#his model sho$s the structure o" the general amino acid )" you build one in a molecular 0it you $ill appreciate better the !, structure the R group is di""erent Amino acids are soluble Each o" the common amino acids has the same structure as the one sho$n e'cept that

#his is an alternative $ay to dra$ the general amino acid structure #his diagram illustrates the 2amino2 group $hich is 5NB2 #here is also the acidic group 5-//B $hich ioni1es in solution to "orm an 5-//5and BGgroups #his acid group is 0no$n as a carbo'ylic acid group

#his is an illustration o" the smallest o" the amino acids4 Glycine Notice that Glycine has an amino group4 carbo'ylic acid group and a R group : B A common source o" glycine is sugar cane

#his image sho$s a common amino acids4 Alanine Note the similarity in structure $ith glycine but this time the R group is 5-B! (tudents are not re>uired to 0no$ the structure o" all 26 common amino acids

top ,atty *cids: #hese molecules are the basis o" triglycerides and many other types o" lipid #hese molecules are also the basis o" the phospholipid molecules that "orm the bilayer o" the cell membrane

#he image sho$s a basic saturated %no double bonds& "atty acid #here is a methyl group %5-B!& at one end o" the chain -hain is the "ormed "rom a series o" covalently bonded carbons saturated $ith hydrogens #he chain is non5polar and hydrophobic #he carbonyl group is polar

ma0ing this ends o" the molecule hydrophilic

#he comple' diagram o" the "atty acid can be abbreviated to this simpler diagram

#his image sho$ the unsaturated double bond $hich is characteristic o" animal "ats

)" there are many double bonds the "atty acid is 0no$n as polyunsaturated

Micelle top )n $ater "atty acid molecules arrange themselves into spheres called micelles #he polar carbonyl groups on the outside in contact $ith $ater molecules #he non5polar tail sections are in the centre a$ay "rom $ater #his is an important aspect o" "at digestion and membrane structure

3.2.3 ,ist three e+amples each of monosaccharides# disaccharides and polysaccharides(1)

List means to Give a se>uence o" names or other brie" ans$ers $ith no e'planation


3.2.4 %tate one function of glucose# lactose and glycogen in animals# and of fructose# sucrose and cellulose in plants(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation

3.2.- %tate three functions of lipids(1).

(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation

3.2.. Compare the use of car&ohydrates and lipids in energy storage(3).

-ompare means to give an account o" similarities and di""erences bet$een t$o %or more& items4 re"erring to both %all& o" them throughout

3.3.1 "utline '(A nucleotide structure in terms of sugar (deo+yri&ose)# &ase and phosphate(2)
/utline means to give a brie" account or summary

(ugar is deo'yribose $hich di""ers "rom ribose in having one less o'ygen on carbon 2 Phosphate is the P/*5! group Eases are nitrogen based ring structures o" $hich there are * di""erent 0inds top

3.3.2 %tate the names of the four &ases in '(A (1).

(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Nucleosides are the combination o" sugar and base only and are not re>uired "or the syllabus Hou $ill ho$ever see the terms used in the literature #hese are the "our bases $hich are universally "ound in living things )n 7<96 Ed$in -harga"" determined that $ithin an organism there $as same appro' the same amount o" A as # and the same amount o" G:-harga"" surveyed a $ide variety o" organsims and "ound in the ratio o" A:#4 G:consistently across the range o" his specimens #hese ratios became 0no$n as -harga""2s ratio2s and $ould later prove to be a signi"icant clue to the structure o" ,NA top

3.3.3 "utline how '(A nucleotides are lin ed together &y covalent &onds into a single strand (2).
/utline means to give a brie" summary

,NA is

composed o" t$o polynucleotides chains Nucleotides are covalently bonded bet$een the phosphate o" one nucleotide to the -! o" the second nucleotide #he phosphate group creates a bridge connecting -9 on one pentose $ith the -! on the ne't pentose #he bond is a phosphodiester bond $hich indicates that there are t$o covalent bonds "ormed bet$een the 5/B and the acidic phosphate group



#he image is o" one polynucleotide chain Note: #he sugar phosphate bac0bone $hich provides the stable bac0bone o" one o" the helices -ovalent bonds that lin0 the nucleotides along the bac0bone o" the molecule #he bases pro+ecting into the centre

At one end there is pentose $ith 92 %said I"ive primeI & carbon $hich is "ree "rom bonding At the other end there is a !2 carbon "ree "rom bonding to other nucleotides Additional nucleotides are +oined to the !2 end o" the e'isting polynucleotide chain


3.3.4 *+plain how a '(A dou&le heli+ is formed using complementary &ase pairing and hydrogen &onds (3).
Bistory: complementary means matching4 is di""erent "rom complimentary4 $hich means being nice Hou may recall that in 7<96 Ed$in -harga"" $or0ing in -olumbia Fniversity F(A had determined that the mass o" the bases%in a ,NA speciment& "ormed ratios o" A:# and G:#his held true $hen ta0ing samples "rom individuals $ithin a population or $hen comparing species across large classi"ication divides )n the cell o" any organism the mass o" Adenine seems to be about the same as the mass o" #hymine #he mass o" -ytosine seems to be about the same as the mass o" Guanine #hree years later the signi"icance o" !hargaff's ule $as reali1e by ;atson and -ric0 at the -avendish Laboratory in -ambridge4 England ;atson an American geneticist and -ric0 an English physicist began model building ,NA based on a collection o" results "rom other researchers4 including -harga"" #he model building techni>ue uses the principles o" chemistry such as molecular structure and bond angles as then developed by Linus Pauling #ogether $ith the data "rom @5ray crystallography studies %the combined $or0 o" ;il0ins and 3ran0lin & they began to build ,NA and part o" that process involved the pairing o" the bases in the centre o" the heli' E'plain means to give a detailed account o" causes4 reasons or mechanisms #he molecular distance "rom Adenine combined $ith #hymine is the same as the molecular distance bet$een Guanine combined $ith cytosine #his gave a uni"orm distance that could "ill the centre o" the heli'

#he complementary bases are "ormed %A5#4 G5-& $hen hydrogen bonded occur bet$een the t$o bases in a pair Re"er to the diagram and notes in the ne't section

3.3.! 'raw and la&el a simple diagram of the molecular structure of '(A(1) .
,ra$ means to be able to represent by means o" pencil lines #his image o" ,NA sho$s the arrangement o" the t$o polynucleotide chains but not the helical shape $hich can be seen in the space "illed model belo$ #his is image sho$s: #$o polynucleotide chains #$o anti5parallel chains %de"inition&

a&#he number "ollo$ed by the prime %2& determined the carbon in deo'yribose "ree "rom bonding to another nucleotide b& Note that the t$o chains are in opposite directions !2 to 92 is parallel to 92 to !2 chain #he anti5parallel chains have a uni"orm distance %2nm& bet$een the outside o" the t$o sugar phosphate bac0bones -omplementary base pairs: )nside the double heli' bases "orm one strand hydrogen bond to bases on the opposite strand but al$ays in the

"ollo$ing $ay: a& Adenine hydrogen binds to #hymine b& -ytosine hydrogen bonds to Guanine

#he three5dimensional structure o" ,NA $as discovered in 7<9! by ;atson and -ric0 in -ambridge4 using the e'perimental data o" ;il0ins and 3ran0lin in London4 "or $hich $or0 they $on a Nobel pri1e Ms 3ran0lin ho$ever died be"ore the a$ard and the Nobel Pri1e is never a$arded posthumously #he main "eatures o" the structure are: ,NA is double5stranded4 so there are t$o polynucleotide stands alongside each other #he strands are antiparallel4 i e they run in opposite directions thus 92 to !2 is parallel to !2 to 92 #he t$o strands are $ound round each other to "orm a double heli' %not a spiral4 despite $hat some te'tboo0s say& #he t$o strands are +oined together by hydrogen bonds bet$een the bases #he bases there"ore "orm base pairs4 $hich are li0e rungs o" a ladder

#he base pairs are speci"ic A only binds to # %and # $ith A&4 and - only binds to G %and G $ith -& #hese are called complementary base pairs %or sometimes ;atson5-ric0 base pairs& %A5# and G5-& #his means that $hatever the se>uence o" bases along one strand4 the se>uence o" bases on the other stand must be complementary to it

3.4.1 *+plain '(A replication in terms of unwinding the dou&le heli+ and separation of the strands &y helicase# followed &y formation of the new complementary strands &y '(A polymerase.(3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms

$. #he original double heli' molecule % Belicase en1yme brea0s the hydrogen bonds bet$een complementary base pairs #his un1ips the double heli' at a position called the replication "or0 ' #here is an abundant supply o" nucleotides in the nucleus "or the "ormation o" the ne$ polynucleotides - Nucleotides base pair to the bases in the original strands . ,NA polymerase +oins together the nucleotides together $ith strong covalent phosphodiester bonds #o "orm a ne$ complementary polynucleotide strand / #he double strand re"orms a double heli' under the in"luence o" an en1yme 0 #$o copies o" the ,NA molecule "orm behind the replication "or0 #hese are the ne$ daughter chromosomes

top )peed o! replication: ,NA replication can ta0e a "e$ hours and this limits the speed o" cell division Eacteria can replicate >uic0ly because o" the relatively small amount o" ,NA Eu0aryotic organism2s accelerate ,NA replication by having thousands o" replication "or0s along the length o" the ,NA molecule


3.4.2 *+plain the significance of complementary &ase pairing in the conservation of the &ase se/uence of '(A.(3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms #he signi"icance o" the mechanism outlined above is that the ,NA molecule is copied precisely "rom one cell generation to the ne't )n a unicellular organism this means that the total genome is success"ully copied into each ne$ generation )n the multi5cellular organism all cells contain an e'act copy o" the total genome %even though not "ully e'pressed& Genes %base se>uences& are "aith"ully passed "rom one generation to the ne't #he genes %base se>uences& $hich the reader possess have been passed "rom generation to generation until they arrived in you no$ ;ith minor and rare modi"ication the base se>uences copied by ,NA replication and success"ully passed on through se'ual reproduction Hour base se>uences have been copied "or thousands o" years

3.!.1Compare the structure of 0(A and '(A.(3).

-ompare means to give an account o" similarities and di""erences bet$een t$o %or more& items4 re"erring to both %all& o" them throughout

3.!.2 "utline '(A transcription in terms of the formation of an 0(A strand complementary to the '(A strand &y 0(A polymerase.(2).
/utline means to give a brie" account or summary

#his model illustrate the process o" transcription that ta0es place in the nucleus #he ,NA base se>uence o" the gene is copied into messenger RNA %mRNA& #he ,NA heli' is opened at the position o" the gene #he heli' is un$ound by RNA polymerase

RNA nucleotides are "ound in the nucleus space /ne o" the polynucleotide chains act as a template "or mRNA 3ree nucleotides base pair $ith ,NA nucleotides #he phosphodiester bonds on the mRNA chain are "ormed by RNA polymerase mRNA is a single polynucleotide chain but the base thymine is replaced by Fracil A"ter the mRNA is complete the molecule detach2s "rom the ,NA and leaves the nucleus "or the cytoplasm ribosomes #he ,NA heli' re"orms

3.!.3 'escri&e the genetic code in terms of codons composed of triplets of &ases. (2)
,escribe means to give a detailed account '"ou can treat the genetic code like a dictionary in which sixty-four words in one language #the sixty-four possible triplets of a four-letter alphabet$ are mapped onto twenty-one words in another language #twenty amino acids plus a punctuation mark$. The odds of arriving at the same %&'() mapping are less than one in a million million million million million. "et the genetic code is in fact literally identical in all animals, plants and bacteria that have ever been looked at. *ll living things are certainly descended from a single ancestor' R ,a$0ins4 %7<<9&4 iver out of +den ;ell actually the code is nearly Fniversal )nterestingly the ,NA in the mitochondria and chloroplast is slightly di""erent in both pro0aryotic and eu0aryotic organisms #here are also some Protists in $hich FAA and FAG code "or glutamine rather than acting as stop codons #he signi"icance o" these di""erences is as yet unclear #he genetic code: A polynucleotide is a se>uence o" bases Eases are either A # G or -

#here are * bases $hich operate in sets o" ! %a triplet& : *!possible triplets o" ,NA :A* triplets #here are 26 common amino acids #here"ore A* triplets are mapped to 26 amino acids Bo$ever there is a 2punctuation2 triplets #here"ore the mapping o" the code is A*: 27

3.!.4 *+plain the process of translation# leading to polypeptide formation.(3)

E'plain means to give a detailed account o" causes4 reasons or mechanisms mRNA is translated into an amino acid se>uence %mapping above& #he location o" translation is the ribosomes in the cytoplasm Ribosomes are also composed o" RNA %rRNA& $hich acts as a catalyst "or the translation o" the mRNA 3ree ribosomes "orm polypeptides %proteins

& "or internal cell use Ribosomes on the endoplasmic reticulum synthesis proteins "or secretion

mRNA "rom the nucleus locates onto the ribosome #he start codon %initiation codon& AFG occupies one o" t$o rib some site )n this image the second site is occupied by -FG codon #he ribosome moves along the mRNA /ne mRNA can have many ribosomes %polysome& $hich accelerates protein synthesis

Activation is a process in $hich #rans"er RNA %tRNA& molecules attach to speci"ic amino acids #he tRNA molecule an anti5codon4 three bases that are complementary to the codons on mRNA )n heterotrophs the amino acids "or activation come "orm consumed protein in the diet

#he "irst codon %AFG& bonds to the tRNA anti5codon FA antiparallel #his tRNA carried the amino acid Methionine #he second tRNA %GA-& binds to the second site $ith mRNA codon -FG #he second tRNA carried the amino acid Leucine Note that codon5anticodon binding is

#he lin0 bet$een the tRNA and the amino acid Methionine is bro0en #he bond energy is trans"erred to "orm a peptide bond bet$een methionine and Leucine #he "irst tRNA is released "orm the ribosome "irst site #his tRNA molecule moves a$ay to pic0 up more methionine

#he ribosome move one mRNA codon to the right %in this image& mRNA no$ occupied site one on the ribosome #he mRNA codon is FG- $hich has the complementary tRNA o" A-G and is charged $ith (erine #his occupied site site on the


#he bond bet$een tRNA and Leucine is bro0en #he bond energy is trans"erred to "orm a peptide bond bet$een Leucine and (erine #he tRNA "or leucine is released "orm site one #hen ribosome shi"t to the right and the process repeats itsel" until the stop codon is encountered As the amino acid chain is built the polypeptide sel" assembles into the correct shape )t essentially "olds up due to intra5molecular "orces such as hydrogen bonds

3.!.! 'iscuss the relationship &etween one gene and one polypeptide.(3)
,iscuss means to Give an account including4 $here possible4 a range o" arguments "or and against the relative importance o" various "actors4 or comparisons o" alternative hypotheses

#heory: /ne gene is transcribed and translated to produce one polypeptide (ome proteins are composed o" a number o" polypeptides and in this theory each polypeptide has its o$n gene e g haemoglobin is composed o" * polypeptides %2 o" each type& and there is a gene "or each type o" polypeptide #his theory4 li0e so many in biology has e'ceptions e g 7& (ome genes code "or types o" RNA $hich do not produce polypeptides 2& (ome genes control the e'pression o" other genes

3.-.1 'efine en1yme and active site.(1)

,e"ine means to give the precise meaning o" a $ord4 phrase or physical >uantity globular proteins catalysts $hich speed up biological reactions unchanged by the reaction speci"ic to their substrate acti"e site is the position on the enzyme occupied by the substrate

a""ected by temperature and pB


3.-.2 *+plain en1yme2su&strate specificity. (3)

E'plain means to give a detailed account o" causes4 reasons or mechanisms

a& Large globular protein en1yme b& Active (ite $here the substrate combines to the en1yme c&(ubstrate $hich "its the active site d& Activated comple' #he substrate is $ea0ened to allo$ the reaction e&Fnchanged en1yme8 re5used at lo$ concentrations "& Product o" the reaction

other +eypoints !rom the hypothesis: #he active site is o"ten composed o" open loops o" polar amino acids on the e'terior o" the en1yme molecule Enzyme speci!icity is due to the complementary shape o" the active site and the substrate En1ymes $or0 at lo$ concentrations because they are una""ected by the reaction and can return "or more substrate top

3.-.3 *+plain the effects of temperature# p3 and su&strate concentration on en1yme activity.(3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms E!!ect o! temperature on the rate o! an enzyme catalysed reaction: (a) As the temperature increases en1yme stability decreases #he 0inetic energy o" the en1yme atoms increases causing vibrations in the en1yme molecule that lead to the hydrogen bonds to brea0ing4 shape changes in the active site (b) As the temperature increases the 0inetic energy o" the substrate and en1yme molecules also increases #here"ore more collisions o" the substrate $ith the active site and the "ormation o" activated comple'2s and product #he rate o" reaction is increasing (c) #he optimal temperature %@& is the highest rate o" reaction -ompromise bet$een decreasing en1yme stability and 0inetic energy o" the reactants (d) Bigher temperature increases the 0inetic energy o" the en1yme atoms so much that they brea0 bonds4 change shape o" the active site

#he main diagram is o"ten simpli"ied to this diagram $hich still sho$s the three 0ey stages in the reaction


(he e!!ect o! p1 on the rate o! an enzyme catalysed reaction:

pB also a""ects the rate o" reaction o" an en1yme catalysed reaction At the optimal pB %a& or %b& the ma'imum rate o" reaction is achieved Above or belo$ the optimal pB the rate decreases #he change in rate is because bonds are made and bro0en $hich change the shape o" the active site and there"ore decrease the rate o" reaction #he t$o en1yme sho$n in the image illustrate the "act that di""erent en1ymes can have very di""erent optimal pB e g Elue curve : pepsin %a&: pB!4 Red curve :salivary amylase %b&: pB J 2

E!!ect o! substrate concentration on the rate o! an enzyme catalysed reaction: %a& As the substate concentration is increased the rate o" reaction increases

#here are more collisions bet$een the substrate and the en1yme such that more activated comple'2s are "ormed and there"ore product per unit time %b& 3urther increases in substrate also increase the rate but proportionately less than previously #he number o" occupied active site is increasing and there is competition "or the active site %c& #he rate is constant #he en1yme active site is "ully saturated $ith substrate such that adding more substrate does not increase the rate o" reaction #he en1ymes molecules are "ully occupied converting substrate to product and any substrate must a$ait a "ree active site be"ore conversion to product


3.-.4 'efine denaturation.(1)

,e"ine means to give the precise meaning o" a $ord4 phrase or physical >uantity 2enaturation is a structural change in a protein that results in the loss %usually permanent& o" its biological properties (emperature:(see section './.') #emperature rises cause the average 0inetic energy o" the en1yme atoms to increase #his vibration brea0s the $ea0est bonds "irst4 $hich in the en1yme are the hydrogen bonds #he brea0ing o" bonds4 changes the shape o" the en1yme -hange the shape o" the en1yme changes the shape o" the active site -hange the shape o" the active site prevents substrate "rom entering #he rate o" reaction reduces or stops

p1: %see section ! A !& At pB lo$er than the optimal pB the concentration o" BG in the solution $ill be higher than normal #he hydrogens $ill tend to be attracted to electronegative regions o" the en1yme protein

Eonds are "ormed or changed as a conse>uence o" the additional BG $hich changes the shape o" the en1yme molecule -hanges in shape4 change the active site shape -hanges in active site shape reduces the ability o" the substrate to bind $ith the active site #his reduces the rate o" reaction that changes substrate to product #he rate o" reaction reduces 3or pB values above the optimum brea0s bonds in the same $ay and have the same reductions in the rate o" reaction top

3.-.! *+plain the use of lactase in the production of lactose4free mil .(3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms Lactose is a disaccharide %glucose G Galactose& mil0 sugar Around 345 o" all humans sho$ some 0ind o" lactose intolerance People $ho are lactose intolerant can drin0 mil0 i" it is lactose "ree Lactase is an en1yme e'tracted "rom yeast that can digest the mil0 sugar to glucose and galactose

4.1.1 %tate that eu aryote chromosomes are made of '(A and proteins.(1)
,tate means to give a specific name, value or other brief answer without explanation or calculation.

#he chromosome is composed o" t$o main molecules

a& ,NA b& Proteins called histones #his image $as ta0en shortly a"ter ,NA a replication but be"ore the prophase )t is composed o" t$o daughter chromatids +oined at the centromere #he chromosome is super coiled by a "actor around '7A4666 #he ,NA molecule is about 7 =m long but is located in the nucleus $hich is only 76um in diameterK


4.1.2 'efine gene# allele and genome. (1)

-efine means to give the precise meaning of a word, phrase or physical .uantity.

Gene:a heritable "actor that controls a speci"ic characteristic Allele: one speci"ic "orm o" a gene4 di""ering "orm other alleles by one or a "e$ bases only and occupying the same gene locus as other alleles o" that gene Genome: the $hole genetic in"ormation o" the organism

4.1.3 'efine gene mutation. (1)

-efine means to give the precise meaning of a word, phrase or physical .uantity. Gene mutation is a change in the base se>uence o" an allele #he changed base se>uence may produce a di""erent amino acid se>uence in the protein translated #he changed base se>uence may not change the protein because o" the degenerate nature o" the genetic code #he e'pression o" the mutated gene may or may not be bene"icial to the organism (ubstances that cause mutation are called mutagens and include chemicals and radiation

Mutation $as coined by Bugo de Vries a dutch researcher $ho at the time $as testing the $or0 o" mendel Bis research at the begriming o" the 26th -entury even suggested that sudden changes in gene might e'plain an evolutionary 2+umping2 mechanisms rather than the gradual mechanisms suggested by ,ar$inism (ubse>uently it has been sho$n that the plant that de Vries $as $or0ing on has unusual genetic behaviour Mutations are not rare4 even as you read these pages you are accumulating thousands o" mutations and i" you are male the mutation rate is even higher Most mutations $ill not improve condition but +ust occasionally against all the odds this is the case Mutation o" course creates the ra$ material "or the process o" evolution -ellular machinery acts against mutation $ith the presence o" all sort o" en1ymes that correct the "re>uent errors Nevertheless loo0 around you and ta0e in the diversity o" li"e4 at any level you care to consider the cause o" this variation is mutation #he production o" mutation is in its sel" a series o" random mista0es Mutagens are the cause o" mutations4 radiation is a $ell 0no$ e'amples but there is also chemical5 mutagenesis as discovered by -harlotte Albach As mentioned the mutation is random and not directional4 an animal e'posed to a cold environment is +ust as li0ely to produce mutations $hich have advantages in $arm climates as it is to a cold climate but it is even more li0ely to produce a mutation that has nothing to do $ith climate #hat said the rate o" mutation is balance bet$een the environmental mutagen attaching the genome and the corrective mechanisms such as the polymerase en1ymes or corrective ,NA en1ymes Eut $hy does mutation occur at allL /r "or that matter $hy is the rate not very very highL #he ans$er is not clear but perhaps the rate o" mutation is a conse>uence o" evolution itsel" No mutation $ould result in an in"le'ible genome incapable o" responding %as a gene pool& to the environmental changes o" time #oo much mutation $ould render the organsims largely non "unctional and compromise its survival #he 2allo$ed2 rate provides su""icient variation to respond to environmental change $hilst not compromising the integrity o" the organisms physiology An interesting discover $hich in directly support this vie$ is the discovery that some bacteria A mutation story


4.1.4 *+plain the conse/uence of a &ase su&stitution mutation in relation to the processes of transcription and translation# using the e+ample of sic le4cell anemia.(3)
+xplain means to give a detailed account of causes, reasons or mechanisms. (ic0le cell anaemia is a genetic disease 3re>uency ia about 7 in A99 A"rican Americans #he disease is inherited not contracted by in"ectious routes )ic+le cell anaemia at the tissue le"el:

%a& Normal haemoglobin has t$o o" "our proteins changed in the mutation

%b& #he normal biconcave disc shape o" the red blood cell is changed to a 2sic0le2 shape

%c& )n addition to not carrying o'ygen correctly %anaemia& the cells also causes local clots %in"arctions& such as is sho$n in the 0idney tubules #his leads to necrosis %death& o" the tubules4 0idney damage4 0idney "ailure and possible to death


Genetics o! )ic+le #ell. #he gene locus "or the normal beta chain o"

haemoglobin is on chromosome 77 #he normal allele carried the triplet GAG at the si'th amino acid position "or the beta chain %7*A amino acids& #his transcribed and translates into the negatively charged Glutamic acid #he mutation changes a single base %# replaces A& and this transcribes and translates into the amino acid Valine Valine has a neutral charge and the result is a change in the shape o" the beta chain $ith long needle li0e structures "orming #his gene is noted "or many mutations and it is estimated that some 9M o" humans carry one or other variants

.2.1 %tate that meiosis is a reduction division of a diploid nucleus to form haploid nuclei.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation

Meiosis is a reduction division o" a diploid nucleus%2n& to "orm a haploid nucleus %n& 3or clarity the nuclear membrane has been omitted "rom the diagram

%a& #he cell is in G7 o" the interphase and has a total o" 2 chromosomes4 2n:2 %b& #he ( phase o" the interphase is ,NA replication %c& )n G2 o" the interphase the cell has t$o daughter chromatids per chromosome4 the cell mass o" ,NA has doubled %d& Meiosis occurs in a series o" phases similar to mitosis ut $ith signi"icant di""erences %e& #he diploid cell has divided to "orm haploid gamete cells %n:7& %"& #he homologous pair o" chromosomes has been separated %red "rom blue&

/ne diploid cell $hich undergoes meiosis produces "our haploid gametic cells


4.2.2 'efine homologous chromosomes. (1)

,e"ine means to give the precise meaning o" a $ord4 phrase or physical >uantity

same gene loci #he "orms o" the gene "ound on the homologous pairs are the alleles o" the gene that an individual may posses Note that "or every gene there are normally t$o alleles in the individual

Bomologous chromosomes "orm pairs $ithin the nucleus and during cell division #he name suggest that both members o" the pair share certain structural characteristics #hey are the same length o" chromosomes #hey have the same shape o" chromosomes #hey carry the same genes in the


4.2.3 "utline the process of meiosis# including pairing of homologous chromosomes and crossing over# followed &y two divisions# which results in four haploid cells. (2)
/utline means to give a brie" account or summary Meiosis is a "orm o" cell division that produces gametes )t ta0es place in the reproductive organs and sho$s variation in ho$ long the process occurs Although meiosis can produce millions o" gametes in a short period o" time in comparison to mitosis in the body it is relatively rare #he stages o" meiosis are sho$n belo$ but begins $ith some diagrams about )nterphase as a reminder )n the diagrams homologous pairs are sho$n in di""erent colours %%red $ith blue&4 %purple $ith green&& #he organism sho$n is an animal cell $ith a diploid number %2n&: * #here"ore $e e'pect to see "our gametes each $ith a haploid number %n& :2 Meiosis 6: #his is the "irst o" t$o sets o" divisions )n meiosis one the prophase4 metaphase4 anaphase and telophase $ill divide the cell into t$o and separate the homologous pairs #his is perhaps the most signi"icant step in terms o" genetics

6nterphase: (a) #he nuclear membrane is intact and the chromosomes inside cannot be seen At this stage the chromosomes are not greatly coiled or condensed $hich allo$s genes to be e'pressed Each ,NA molecule is about 7 =m long but still $ound su""iciently such that it can be contained inside a 76um nucleus

(b) )n the G7 stage o" the )nterphase each chromosome is a single ,NA molecule %Ghistones& Bere $e can see %although in5 reality you cannot since the nucleus is intact& that there are "our chromosomes and the diploid number o" the cell is 2n:* Red and blue are a homologous pair as are green and purple

(c) )n (7 o" the interphase the ,NA molecules replicate Each copy %sister chromatids& are held together at the centromere %blac0 dot& #he cell is no$ preparing "or the meiotic division in $hich: -hromosome number $ill be halved and the Bomologous chromosomes $ill be separated

(d):Early prophase4 the nuclear membrane is brea0ing do$n #he spindle o" microtubules is "orming "rom opposite ends o" the cell -entrioles organise the spindle construction at the poles o" the cell

(e) #he pairs o" sister chromatids attach to the spindle microtubules at the centromere #he ,NA is condensing by super coiling4 this $ill reach it pea0 in the metaphase

(!) #he pairs o" chromatids $ill move up and do$n the bet$een the poles but gradually move to$ards the e>uatorial plate %centre& o" the cell #he nucleus has no$ disappeared and the chromosomes are dense enough to be seen $ith a light microscope Note that the red and blue homologous pair are 2crossing over2 4 see metaphase "or details

Prophase is the longest o" the meiotic phases o" cell division )n humans the process o" meiosis in the testes can ta0e up to a month "orm the diploid cell to the mature sperms cell )n human "emales the process begins as a "oetus $hilst still in the uterus but does not complete until the instance o" "ertilisation many years later

(g) #he metaphase is mar0ed by all pairs o" sister chromatids aligned on the e>uator #he chromosomes are at their most condensed and there"ore most visible at the metaphase

(h) #ross7o"er. Notice that the chromosome o" one homologous chromosome is e'changing $ith the chromosome o" the parallel non5sister chromosome -ross5over is the e'change o" genetic material bet$een non5 sister chromatids during Prophase ) but is most readily seen during the metaphase #he point at $hich the chromosomes e'change genetic in"ormation is called the chiasma. #his may occur many times along a chromosome and not +ust once as sho$n in the diagram

(i) Early anaphase $ith the homologous pairs are aligned together on the e>uatorial plate o" the cell #he spindle microtubules contract and pull the homologous pairs %alleles& apart #he homologous pairs separate one to either pole #his is the case $ith all homologous pairs

( ) Late anaphase the pairs o" chromatids are moving to the poles Notice that there has been an e'change o" genetic material on the 2arm2 o" the red and blue homologous pair

Ne$ combinations o" genes are not "ound on the same chromosome

(8) )llustrates ho$ to identi"y anaphase by the 2arro$2 shape ma0e by the pair o" sister chromatids points to$ards the poles

(l) chromosomes are no$ in t$o sets at opposite ends o" the cell Each set contains one "rom each o" the homologous pairs )n some species a nuclear membrane may "orm4 in others there is a progression straight into Prophase )) #he cell membrane 2pinches2 to$ards the centre in a 2cleavage "urro$2 the membrane $ill "use at a central point and the cell $ill have divided in hal" #his mar0s the end o" meiosis one %reduction division& in $hich the homologous pairs have been separated top

Meiosis 66: involves the separation o" the sister chromatids and loo0s very li0e mitosis

(m) #he nuclear membrane brea0s do$n i" present (pindles re"orm % sho$n here in the vertical plane only to distinguish "rom the diagrams above& -entrioles begin the organisation o" the spindle microtubules

Pairs o" sister chromatids $ill attach one to each spindle microtubule set

(n) All Pairs o" sister chromatids aligned on the e>uatorial plate o" the cell

(o) #he spindle "ibres contract and the pairs o" sister chromatids separate Each pole receives one o" the chromosomes % one chromatid&

(p) Nuclear membranes "orm around each o" the tetrad o" haploid game cells Notice that each cell contains t$o chromosomes n:2 %haploid& Notice that the homologous pairs are separated %no red $ith blue4 no purple $ith green& #here are some unusual chromosomes $ith e'changed genetic material due to cross5over


Non7syllabus in!ormation: ,ertilisation 9 n : n 9 %n #$o cells %"rom meiosis& one the "emale %egg& the other the male sperm %n& $ill +oin together their sets o" chromosomes to "orm a ne$ complete diploid set4 this is called "ertilisation #he diploid o""spring are genetically uni>ue and sho$ di""erences to other individuals both their parents4 siblings and others in the population #he members o" a population sho$ di""erences %variation& "or a given characteristic #his is the basis o" one o" the remar0able contributions o" -harles ,ar$in to biology4 population thinking 4 $hich is to say that a population sho$s variation /" course ,ar$in ne$ little o" the details o" meiosis

4.2.4 *+plain that non4dis5unction can lead to changes in chromosome num&er# illustrated &y reference to 'own syndrome (trisomy 21). "&5ective level (3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms Non5dis+unction is an error in meiosis produce cells $ith unusual combinations o" chromosomes %a& #his is the diploid parental cell %2n:2& %b& (5phase involves ,NA replication during the interphase %c& Pairs o" sister chromatids are "ormed during the interphase %d& meiosis should separate? i& Bomologous pairs ii& sister chromatids4 so that each cell contains one chromosome %in this e'ample& %e& Bas an e'tra red chromosome so that sister chromatids have "ailed to separate during meiosis )) #his games has one e'tra chromosomes

%"& #his gamete has one less chromosome that it should have %none in this case& %g& #hese gametes are normal Non5dis+unction can also occur during meiosis ) in $hich case all the tetrad are a""ected

top E'ample: 2o;ns )yndrome

#risomy 27: An individual $ith ,o$n2s syndrome has three copies o" chromosome 27 ,uring meiosis the sister chromatids have not been separated %non5dis+unction& so that the gamete has had 2* chromosomes %2! G i e'tra chromosome number 27& At "ertilisation $hen the chromosomes "orm ne$ homologous pairs the 27stpair actually is a triplet #he image to the le"t sho$s a set o" human chromosomes in their homologous pairs -hromosome 27 sho$s trisomy ,o$n2s is called a syndrome because it sho$s $ide variation in the symptoms and signs o" the condition )ndividuals can e'perience learning and social problems along $ith additional physiological abnormalities #hat said4 ) have personally met an individual $ith ,o$n2s syndrome so mild that they had passed many public e'aminations As al$ays $e must be ever so care"ul to +ump top conclusions about assigning labels to individuals


4.2.! %tate that# in aryotyping# chromosomes are arranged in pairs according to their si1e and structure.(1).
(tate measn to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Pictures can be ta0en o" the human chromosomes during the metaphase #hey can then be arranged into pairs on the basis o" si1e and structure

#he chromosomes appear as pairs o" sister chromatids #here are 2! pairs %*A chromosomes& there"ore this is human )n this case the 2!rdpair in this case are one long pair o" chromatids %@5chromosome& and one very short %H chromosome& #his is a male human #here is no visible chromosomal abnormality

4.3.1 'efine genotype# phenotype# dominant allele# recessive allele# codominant alleles# locus# homo1ygous# hetero1ygous# carrier and test cross.(1)
,e"ine means to give the precise meaning o" a $ord4 phrase or physical >uantity


4.3.2 'etermine the genotypes and phenotypes of the offspring of a monohy&rid cross using a 6unnett grid.(3)
,etermine means to "ind the only possible ans$er )t is possible using genetic crosses to determine the genotype and phenotype o" the o""spring #he method used is called the Punnett s>uare $hich is a simple grid $hich allo$s the genotypes and phenotypes to be determined methodically ;hen you begin genetic crosses it is $orth $riting out in "ull the calculation and only later start to abbreviate your calculations #his may seem very time consuming but it $ill prepare you properly "or the >uestions as0ed in the e'amination )n the "ollo$ing e'ample a very long hand "orm is used that includes images o" chromosomes and alleles to help us trac0 $hat it ta0ing place ) strongly advise that students al$ays thin0 about $hat is ta0ing place in the stages o" meiosis and "ertilisation Monohybrid genetic crosses: genetics in"ol"ing one gene. E'ample: Pea plants and the te'ture o" their seed coats #he characteristic o" seed coat te'ture is controlled by by one gene $ith t$o alleles #he seed coat can be either smooth or rough

(mooth coat is dominant to rough coat /ne parent is homo1ygous dominant and the other is homo1ygous recessive

(tep 7: ;rite an allele 0ey using the upper case letter "or the dominant allele and the lo$er case latter "or the recessive %here ( and s& )t is actually better to use easily distinguished letter such as L and l4 N and > and so on (tep 2: ;rite out the parental phenotype cross (tep !: ;rite do$n the genotypes o" the parents%diploid& )n this case they are both homo1ygous (tep *: ;rite do$n the genotype o" the gametes %haploid& )n this case since both alleles are the same in appearance they can only produce on genotype o" gamete "or this gene (tep 9 : )n the Punnett s>uare $rite do$n the possible "ertilisations Remember these are +ust probabilities %chance "ertilisations& (tep A: ;rite out the genotypes and ratio o" the o""spring (tep J ;rite out the phenotypic ratio #he dra$ings help to visuali1e $here the alleles are going Bo$ever the aim is +ust to use the allele code letters 3: "ilial %"irst generation o" the homo1ygous parent cross & Note that they are all hetero1ygous

,$ #ross 9 ,$ (heterozygote) < ,$ (heterozygote) Phenotype 9 )mooth coat seed < )mooth coated seed: (tep 7: use the same allele 0ey as above (tep 2: (mooth -oat @ (mooth coat (tep !: (s @ (s

Meiosis $ill separate the homologous pairs %(s&

(tep *: Gamete genotypes are ( and s "or both parents (tep 9: Enter possible "ertilisations into the Punnett grid Note this time each parent $ill produce t$o types o" gamete #he chance o" producing on or other type o" gamete is p: 6 9 % 96M& or 7 in 2 (tep A ;rite out the gamete genotype and ratio 7 (( : 2(s: 7ss (tep J: ;rite out the phenotypic ratio: ! (mooth coats: 7 Rough -oat

Remember that homo1ygous dominant cannot be distinguished "rom the hetero1ygote so they all appear the same top

Points to remember: All parental alleles must segregate in meiosis to "orm gametes #here is an e>ual probability o" each allele carried occurring in the gamete 3ertilisation is a random process $ith each gamete%allele& "rom one parent having an e>ual chance o" "ertili1ing any o" other gamete % alleles& o" the other parent #he genotypes o" any particular o""spring genotype or phenotype are only probabilities /ne "ertilisation o" t$o gametes does not a""ect he probability o" the other possible "ertilisations

)n the previous e'ample ,$ < ,$ the ratio produced is ':$ #he probability o" the o""spring developing to produce smooth coated seeds is ! in * or J9M #he larger the population o" o""spring the closer the phenotypic ratio $ill be to !:7 #he smaller the population the more li0ely a larger deviation "rom the !:7 ratio top

4.3.3 %tate that some genes have more than two alleles (multiple alleles).(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation (ome genes have more than t$o alleles An individual can only possess t$o alleles #he population may contain many alleles "or a given gene Multiple alleles increases the number o" di""erent phenotypes Multiple alleles can be dominant4 recessive or co5dominant to each other E'ample: Rabbit coat colour%-& has "our alleles $hich have the dominance hierarchy: - O cch O chO c

#his produces 9 phenotypes4 ,ar0%-P& 4 -hinchilla% cchcch&4 light grey %cchch 4cchc&4 Point restricted %ch ch4 chc& and albino %cc& top

4.3.4 'escri&e A7" &lood groups as an e+ample of codominance and multiple alleles. (2)
,escribe means to a detailed account

#he AE/ blood group system is an e'ample o" both a multiple allele and codominance condition #here are three alleles the base letter : ) stands "or immunoglobulin )A and )E are codominant to each other Eoth these alleles are dominant to i #he Allele hierarchy is )A : )E O i


4.3.! *+plain how the se+ chromosomes control gender &y referring to the inheritance of 8 and 9 chromosomes in humans.(3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms

Gender in humans is controlled by the 2!rd pair o" chromosomes @@ is "emale and @H is male #he "emale possess t$o @ chromosomes one inherited "rom the "ather the other "rom the mother #hey are both the longer chromosomes

#he male possess one @ chromosome inherited "rom the mother and the much shorter H chromosome inherited "orm the "ather #he image to the le"t represents the di""erence in the @@ and @H combination #he y chromosome length is greatly e'aggerated in this image

#his image represent a theoretical cross bet$een a human male and "emale #he "emale can provide only one type o" chromosome %@& #he male ho$ever provides sperm cells either $ith and @ or $ith a H #heoretically this means that in any "ertilisation there is a P:6 9 % 96M 4 7 in 2& chance o" having either a boy or a girl #his is the basis o" many genetic crosses and the one adopted here

Bo$ever studies o" "amilies sho$s that some "amilies tend to have more boys than girl and some "amilies have more girls than boys #he inheritance o" this tendency is e'plored in the e'cellent boo0 about the H5chromosome: (y0es4 E #(//0$. *dams !urse. 1ew "ork' Norton Paperbac0

#he genetic basis o" gender is associated $ith the (RH gene %(e' determining region o" the H chromosome& that $as identi"ied as the previously hypothesised trf gene #his gene is normally "ound at the very tip o" the y5chromosome but has also been

"ound on the @5chromosome due to translocation errors )n such a case it is possible to be male and yet have @@ chromosomes Ne$ (cientist 7 Ne$ (cientist 2 (e'ual di""erentiation %$i0i& (RH Gene %$i0i& top

4.3.- %tate that some genes are present on the 8 chromosome and a&sent from the shorter 9 chromosome in humans.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Male: (ome genes are present on the @5 chromosome but missing on the shorter H5 chromosome #he image o" the male 2!rdpair o" homologous chromosomes represent the si1e di""erence in the t$o chromosomes )n the non5 homologous region o" the @5 chromosome a male $ill only have one allele "or any gene in this region Genes in the homologous region have t$o alleles per gene and "unction +ust as other genes already described ,emale:

#he complete length o" the @5chromosome has a homologous pair on the other @5 chromosome Genes on the '5chromosome o" "emale there"ore have t$o alleles +ust li0e another gene on the other chromosomes


4.3.. 'efine se+ lin age.(1)

,e"ine means to give a precise meaning o" a $ord4 phrase or physical >uantity Genes on the non5homologous region o" the @ 5 chromosome are said to be se' lin0ed 3emales have t$o such chromosomes %there"ore t$o alleles& and males only one Phenotypes associated $ith recessive alleles are more common in males than in "emales

Assuming that this plant species is dioecious #he recessive allele %a& is "ound on the non5homologous region o" the @5 chromosome Males only get one allele "or this gene Males have a 96M chance o" being recessive 3emale have a lo$er ris0 %!! ! M& since they al$ays receive 2 alleles 2Recessive2 males can pass on this condition% @5chromosome& to the 2daughter2 -annot pass these conditions to the 2sons2 as they pass the y5 chromosome $ith no alleles


4.3.: 'escri&e the inheritance of colour &lindness and hemophilia as e+amples of se+ lin age.(2)
,escribe means to give a deatiled account

Red Green colourblindness is a se' lin0ed condition #he gene loci is on the non5 homologous region o" the @5 chromosomes Red Green colour blindness is more common in males than in "emales Males al$ays inherit the colourblind allele "orm their mothers Males cannot pass on colourblindness to their sons since the H5allele does not have any o" the colourblindness alleles

6nheritance o! colourblindness: -alculation: -alculate the phenotypic ratio o" a cross bet$een a "emale carrier "or red green colour blindness and a normal vision male Ans$er

1aemophilia Baemophilia is a recessive4 se'5 lin0ed genetic disorder Persons su""ering "rom haemophilia are unable to produce clotting "actor #he haemophiliac allele %@h&is recessive to the normal allele %@B& #he gene is located on the non5 homologous region o" the '5 chromosome Baemophilia is more common in men than $omen Males inherit the allele "rom their mother and develop the disease (ince %until recently& the prognosis "or survival $as poor and haemophiliac males did not survive to pass on the allele to their daughters %its on the @5chromosome& #here"ore "emale haemophilia $here rare top

Baemophilia can occur in the children $here the mother is a carrier and a normal male #he mother is hetero1ygous "or the allele %@B @h& #he "ather carries the normal allele on the '5 chromosome and none on the H chromosomes %@B H&

;e can see that "rom such a cross the probability o" being a haemophiliac male is P:6 29 % 29M or 7 in *& #oday $ith treatment haemophiliac males can survive until se'ual maturity but they cannot have daughters $ho are normal "or this condition4 $hyL Bistorically the haemophiliac allele has played a signi"icant role in history and not least amongst the royal "amilies o" europe


4.3.; %tate that a human female can &e homo1ygous or hetero1ygous with respect to se+4lin ed genes.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation

3emales can be homo1ygous or hetero1ygous "or the se'5lin0ed alleles


4.3.1< *+plain that female carriers are hetero1ygous for 84lin ed recessive alleles. (3)
E'plain means to give a detailed account o" causes4 reasons or mechanisms -arrier are individuals that are hetero1ygous "or the allele #he have both the dominant and the recessive %disease& allele 3emales have t$o long ' chromosomes %t$o alleles& but males have only one such chromosome %one allele&

Betero1ygous "amales can carry the disease causing allele but are normal as they also have the dominant allele #o carry a disease causing allele in the hetero1ygote and be normal is called a 2 -arrier2 top

4.3.11 6redict the genotypic and phenotypic ratios of offspring of monohy&rid crosses involving any of the a&ove patterns of inheritance.(3)
Predict means to give an e'pected result 7 #he ability to taste the chemical P#- is determined by a single gene in humans $ith the ability to taste given by the dominant allele # and inability to taste by the recessive allele t (uppose t$o hetero1ygous tasters %#t& have a large "amily

a Predict the proportion o" their children $ho $ill be tasters and non5tasters b Fse a Punnett s>uare to illustrate ho$ you ma0e these predictions is the li0elihood that their "irst child $ill be a tasterL c ;hat is the li0elihood that their "ourth child $ill be a tasterL d $hat is the li0elihood that the "irst three children o" this couple $ill be non tasters ans$er 2 )n certain trees4 smooth bar0 is dominant over $rin0led

a -ross t$o trees that are hetero1ygous "or smooth bar0 b )" there are 766 o""spring produced4 ho$ many $ill have $rin0led bar0


! A rooster $ith grey "eathers is mated $ith a hen o" the same phenotype Among their o""spring 79 chic0s are grey4 A are blac0 and = are $hite

a ;hat is the simplest e'planation "or the inheritance o" these colours in chic0ensL b ;hat o""spring $ould you e'pect "rom the mating o" a grey rooster and a blac0 henL


* )n Mountain Eoomers4 the genes "or length o" tail e'hibit co5dominance a Fse a Punnett (>uare to predict the result o" a cross bet$een a homo1ygous Long5tailed and a homo1ygous (hort5tailed Mountain Eoomer b (uggest $hat the the o""spring might loo0 li0eL ans$er 9 )n roses4 red petal is dominant over $hite petal Fse the allele 0ey R "or the red allele and r "or the $hite allele a -ross t$o hetero1ygous red roses4 b ,escribe the phenotype o" the o""spring ans$er A )n dogs4 $ire hair is due to a dominant gene %;& and smooth hair is due to its recessive allele %$&

a )" a homo1ygous $ire5haired dog is mated $ith a smooth5haired dog4 $hat type o" o""spring could be producedL b ;hat type o" o""spring could be produced in the 32L c #$o $ire5haired dogs are mated Among the o""spring o" their "irst litter is a smooth5 haired pup )" these t$o $ire5haired dogs mate again4 $hat are the chances that they $ill produce another smooth5haired pupL ;hat are the chances that the pup $ill be $ire5 hairedL d A $ire5haired male is mated $ith a smooth5haired "emale #he mother o" the $ire5haired male $as smooth5haired ;hat are the phenotypes and genotypes o" the pups they could produceL

ans$er J )n snapdragons4 red "lo$er colour is incompletely dominant over $hite "lo$er colour? the hetero1ygous plants have pin0 "lo$ers

a )" a red5"lo$ered plant is crossed $ith a $hite5"lo$ered plant4 $hat are the genotypes and phenotypes o" the plants o" the 37 generationL b ;hat genotypes and phenotypes can be produced in the 32 generationL c ;hat 0inds o" o""spring can be produced i" a red5"lo$ered plant is crossed $ith a pin05 "lo$ered plantL d ;hat 0inds o" o""spring can be produced i" a pin05"lo$ered plant is crossed $ith a $hite5 "lo$ered plantL

ans$er = )n cattle4 roan coat colour %mi'ed red and $hite hairs& occurs in the hetero1ygous %Rr& o""spring o" red %RR& and $hite %rr& homo1ygotes ;hen t$o roan cattle are crossed4 the phenotypes o" the progeny are "ound to be in the ratio o" 7 red : 2 roan : 7 $hite ;hich o" the "ollo$ing crosses could produce he highest percentage o" roan cattleL %a& red ' $hite? %b& roan ' roan? %c& $hite ' roan? %d& red ' roan? %e& all o" the above crosses $ould give the same percentage o" roan

ans$er < Roan colour in cattle is the result o" the absence o" dominance bet$een red and $hite colour genes Bo$ $ould one produce a herd o" pure5breeding roan5coloured cattleL


76 )n some cats4 blac0 colour is due to a se'5lin0ed %@5lin0ed& recessive gene %b&? the dominant allele %E& produces orange colour #he hetero1ygote %Eb& is calico a ;hat 0inds o" o""spring $ould be e'pected "rom the cross o" an orange male and a blac0 "emaleL

ans$er 77 Baemophilia is a se'5lin0ed trait $here @B gives normal blood clotting and is dominant to the haemophilia allele @h

a Give the genotypes o" 7& a $oman $ith normal blood clotting $hose "ather had haemophilia and 2& a normal man $hose "ather had haemophilia b ;hat is the probability that a mating bet$een these t$o individuals $ill produce a child4 regardless o" se'4 that has haemophiliaL c )" this couple has a daughter4 $hat is the probability that the daughter $ill be a carrier o" the haemophilia traitL ;hat is the probability a daughter $ould have haemophiliaL d )" this couple has a son4 $hat is the probability he $ill have haemophiliaL

ans$er 72 )" a $oman $ho is red5green colour blind mates $ith a man $ith normal vision4 $hat phenotypes $ould one e'pect their children to haveL

ans$er 7! -ystic "ibrosis is "ound on the autosomal chromosomes )t is a recessive disorder in $hich the allele 0ey is dominant -3and -" "or the recessive allele a A child is diagnosed $ith cystic "ibrosis sho$ $ith a diagram the li0ely genotype o" their parentsL b ;hat is the probability o" the ne't child "rom this couple being not having the diseaseL ans$er

More monohybrid >uestions Even more monohybrid >uestions More se' lin0age >uestions (e' lin0age %Ari1ona& set 7 (e' lin0age %Ari1ona& set 2 (&8=6( -.'.$$ >uote: 2(tatisticians are convinced that Mendel2s results are too close to e'act ratios to be genuine2 2 $hether it is right to discard results that do not "it a theory as Louis Pasteur is 0no$n to have done4 2 #o $hat e'tent are statements li0e these made $ith the bene"it o" hind site or $ith the bene"it o" historical perspectiveL )s it correct to +udge the $or0 o" another person by the value system and methodologies o" a historically later dateL

E'ternal Lin0s Mendel ;eb homepage

-omment: 2t is most important when considering the above statements that we do not lapse into an all too easily adopted cynical evaluation of the work of people like 3endel, 4asteur, -arwin and more recently 5atson and !rick. 6istorical revision of events of course is valuable but only if it has us reflects on our own conduct. 2 would suggest it is more important to reali7e that scientific work today which seems entirely valid #by today's standards$ may well fail the the .uality assurance standards of future generations. The work of the scientist mentioned and so many more besides stands as pivotal moments in scientific history. ,tudents of the 28 diploma might like to reflect on how their own work will be evaluated when they participate in the group & projects9

4.3.12 'educe the genotypes and phenotypes of individuals in pedigree charts.(3)

,educe means to give reach a conclusion "rom the in"ormation given /"ten geneticists $ill carry out planned e'periments in $hich breeding pairs are selected and the o""spring phenotypes counted Bo$ever this is not acceptable or possible $hen $or0ing $ith humans )nstead geneticists have to collect in"ormation "orm about individuals and relatives $ithin a "amily and construct diagrams o" inheritance%"amily trees& called pedigrees #he chart sho$ the typical symbol "ound in a pedigree chart grandchildren o" %7& and %2& -ircles are "emale%7&4%!&4%9&4 %A& (>uares are male %2&4 %*&4 %J& Elac0 means that the individual is a""ected by the condition4%!& ;hite indicates that the individual is una""ected by the condition Mating: 3emale 7 and male 2 %Bori1ontal line& -hildren: 3emale %!& and male %*& are the children o" %7& and %2& )ndividuals %A& and %J& are the paternal

Phenyl0etonuria %P.F& is a metabolic disorder and a recessive genetic condition #he pedigree sho$s the inheritance through a particular "amily ;hich individuals can $e be sure about their genotypeL (ince it $as not possible to identi"y the condition o" 72 and 7! suggest their genotype and phenotype and ho$ the diagram may need modi"yingL

4.4.1 "utline the use of polymerase chain reaction (6C0) to copy and amplify minute /uantities of '(A. (2)
/utline means to give a brie" account or summary P-R is the cloning o" ,NA %ampli"ication& -opies are made and the amount o" ,NA can be rapidly increased Fse"ul i" the source o" ,NA is small #emperature is used instead o" en1ymes li0e helicases %<9o- &

,NA polymerase is thermostable to protect it against the reaction temperatures #his is an automated process and can produce su""icient ,NA in 26 cycles


4.4.2 %tate that# in gel electrophoresis# fragments of '(A move in an electric field and are separated according to their si1e.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation (ample o" "ragmented ,NA is placed in one o" the $ells on the gel An electrical current is passed across the gel 3ragment separation

is based on charge and si1e Large "ragments move slo$ly Negative "ragments are moved to the right

Gel a!ter staining:

#his diagram sho$s the separation o" A separate mi'tures o" ,NA #he dar0 bands to the le"t are those $ith a large molecular mass or a positive charge %a& contains 9 "ragments o" ,NA Each bands corresponds to a group o" ,NA molecules o" the same si1e and charge %b& and %c& have the same bands #hey are identical


4.4.3 %tate that gel electrophoresis of '(A is used in '(A profiling.(1)

(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Gel electrophoresis is used in ,NA pro"iling )atellite ((andem repeating) 2N* are highly repetitive se>uences o" ,NA "rom the non coding region o" ,NA ,i""erent individuals have a uni>ue length to their satellite regions #hese can be used to di""erentiate bet$een one individual and another #here are di""erent types o" 2,NA "ingerprinting2 "or di""erent circumstance

%a& #he mothers chromosome provides a ,NA (#R cutting the chromosome $ith particular restriction en1ymes %b&#he "athers chromosome provides the same "ragment using the same restriction en1ymes %c& #he mother ,NA "ragment placed in the $ell o" the gel %d& #he mother ,NA "ragment placed in the $ell o" the gel %e& Mothers "ragment produces 9 (#R and moves a short distance along the electrophoresis gel %"& "athers "ragment produces 2 (#R and moves a longer distance along the electrophoresis gel

%g& #he child is hetero1ygous "or the "ragment having on homologous chromosome "orm the "ather and one "orm the mother Eoth 9 (#R and 2 (#R are sho$n in the electrophoresis

#he techni>ue can be used in: 3orensic crime investigations Parentage )ssues Animal breeding pedigrees ,isease detection top

4.4.4 'escri&e the application of '(A profiling to determine paternity and also in forensic investigations.(2).
,escribe means to give a detailed account Paternity 6n"estigation: #rying to determine $ho are the biological parents o" a child #he ,NA "ragments in the child comes "rom the mother and "ather A band present in the child must come either "rom the mother or "rom the "ather -omparing male 7 $ith the child then male 2 $ith the child


#he bands on the child2s "ragments are either "ound on the mother or the male7 Male $ there"ore is this "ather o" this child None o" the Male 2 bands appear in the child

,orensic 6n"estigation: A specimen o" ,NA is ta0en "rom the victim or the crime scene ,NA samples are ta0en "rom the ! suspects #he bands are compared to associate the suspects but to eliminate the victims ,NA "rom the specimens

)nterpretation: Note that the bands on the specimen are matched by the bands on the (uspect 7 #his means that (uspect 7 $as present at the crime scene

#he la$ $ill still re>uire to prove a crime $as committed and then that (uspect 7 committed the crime top

4.4.! Analyse '(A profiles to draw conclusions a&out paternity or forensic investigations.(3)
Analyse means to interpret data to reach conclusions )n the above e'ample the description has been e'tended to an interpretation

4.4.- "utline three outcomes of the se/uencing of the complete human genome. (2)
/utline means to give a brie" account or summmary Eegun "ormally in 7<<6 the international pro+ects aims $here: identi"y all the appro'imate !64666 genes in human ,NA determine the se>uences o" the ! billion chemical base pairs that ma0e up human ,NA store this in"ormation in database improve tools "or data analysis trans"er related technologies to the private sector address the ethical4 legal4 and social issues %EL()& that may arise "rom the pro+ect #o help achieve these goals4 researchers also are studying the genetic ma0eup o" several nonhuman organisms #hese include the common human gut bacterium Escherichia coli4 the "ruit "ly4 and the laboratory mouse

E'ternal Lin0s: (anger )nstitute F( G/V top

4.4.. %tate that# when genes are transferred &etween species# the amino acid se/uence of polypeptides translated from them is unchanged &ecause the genetic code is universal.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation #he genetic code is universal All 0no$n organisms use the same genetic code #here"ore in principle i" $e trans"er a gene "rom one species to another it should still be transcribed and translated into the same protein

As $ith all o" biology its the 2e'ceptions that prove the rule2 and so it is $ith the 2Fniversal genetic code #here are in "act some pro0aryotes $hich have one or t$o di""erent code speci"ications Bo$ever they do not adopt a radically di""erent system /nce more this demonstrates the emergent properties o" comple' biological systems top

4.4.: "utline a &asic techni/ue used for gene transfer involving plasmids# a host cell (&acterium# yeast or other cell)# restriction en1ymes (endonucleases) and '(A ligase. (2)
/utline means to give a brie" account o" summary (tage 7: obtaining the gene "or trans"er: Restriction en1ymes are used to cut out the use"ul gene that is to be trans"erred Note the 2stic0y ends2 o" unattached hydrogen bonds

(tage 2 Preparing a vector "or the trans"erred gene: Plasmids are small circular ,NA molecules "ound in bacteria #hese can be cut $ith the same restriction en1yme as above #his leaves the same complementary 2stic0y ends2 in the plasmid #he plasmid can be cut at particular sites #hese are called restriction sites and some are named in

the diagram

(tage! Recombinant ,NA (a) plas mid that $ill be the vector mid cut at restriction site Pstl (c) (ource ,NA cut $ith same restriction en1yme as plasmid to (d) %e) Recombinant ,NA (b) plas

(f) unaffected plasmid

E'pression vectors: usually i" a eu0aryotic gene is inserted into the genome o" a pro0aryote it ma0e very little o" the desired gene product #here"ore additional "actors are included in the vector plasmid 2pac0age2 $hich includes types o" RNA #he "inal plasmid as outlined above containing these additional "actors is called an2 E'pression vector2

(tage* )solation o" trans"ormed cells Recombinant ,NA is introduced into the host cells Many cells remain untrans"ormed

(ome cells are trans"ormed to contain the recombinant ,NA #hese trans"ormed cells must be separated "rom untrans"ormed

(tage 9 Product manu"acture #he trans"ormed bacterial cells are isolated #hey are introduced into a 3ermenter to be cloned #he bacterial population gro$s by ase'ual reproduction #he Recombinant ,NA is copied along $ith the rest o" the bacterial genome

)n a "ermenter the conditions "or gro$th and reproduction are controlled /nce the bacteria e'press the trans"ormed gene the product is produced #he ne't %long & step is to isolate and puri"y the product #his is called do$nstream processing


4.4.; %tate two e+amples of the current uses of genetically modified crops or animals.(1)
(tate means to give a speci"ic name4 value or other brie" ans$er $ithout e'planation or calculation Genetically modi"ied organism %GM/& is an organism containing a transplanted gene #he organism $ill e'press the gene and synthesis the protein

,actor 6? : A human clotting "actor is produces by genetically modi"ied sheep #he protein %"actor )@& is e'pressed in mil0 "rom $hich it must be isolated be"ore use by haemophiliacs

A e$e is treated $ith "ertility drugs to create super5 ovulation Eggs are inseminated

Each "ertilised egg has the transgene in+ected

A surrogate e$e has the egg implanted "or gestation

Lambs are born $hich are transgenic4 GM/ "or this "actor )@ gene

Each Lamb $hen mature can produce mil0

#he "actor )@ protein is in the mil0 and so must be isolated and puri"ied be"ore use in human top (omato salt tolerance: Plants "ind it hard to gro$ in salty conditions since this hypertonic soil $ater results in desiccation4 $ilting and death o" the plant #omato plants have no$ been genetically modi"ied to carry the gene "or salt tolerance #he origin o" the gene $as a $eed called *rabidopsis thaliana. #he transgenic tomato plant can tolerate plants #his no$ provides the opportunity "or a crop to be gro$n in an other$ise sterile soil Lin0s: Rice ;ith retinol: Retinol de"iciency: Retinol %Vitamin A7& is essential "or the development o" an e""ective immune system4 normal vision and gro$th ;here a child lac0s Retinol they have stunted gro$th and in e'treme cases blindness A serious complication arises "rom the combined o" malnutrition4 disease and retinol de"iciency #he coincidence o" these three conditions together is seen in some third $ord nations )n Qambia more than 9*M o" the population o" children have retinol de"icient diets Even i" children have su""icient "ood %calories& the problem is that is not a balanced diet #hese children e'perience retarded gro$th "or their age group and vision problems are common Vision problems usually begin $ith a loss o" night vision and then ultimately complete blindness As might be e'pected these communities "ind it very di""icult to support children $ith these multiple problems #o ma0e matters $orse diseases such as malaria and measles %0no$n 0iller diseases& disable or 0ill large numbers o" children as they have ine""ective immune systems4 another conse>uence o" retinol de"iciency Rice does not contain retinol or beta5carotene %used by the body to ma0e retinol& Rice does contain a molecule that is normally used to ma0e beta5carotene #he gene and en1ymes to manu"acture are missing "rom rice Genetically modi"ied rice contains the gene "or the manu"acture o" beta5carotene (ource o" the gene is either +rwinia bacterium or the common da""odil #he transgenic rice is usually yello$ in colour because o" the accumulation o" beta5 carotene #his transgenic rice is then crossed $ith local strains o" rice

1erbicides: Roundup

;eeds gro$ing amongst a crop use up soil nutrients that $ould other$ise be used by the crop plant #his competition o" resources reduces the productivity o" the crop plant and there"ore the e""iciency o" "arming Berbicides can be used prior to crop planting to 0ills $eeds #he herbicide cannot be used a"ter crops have been so$n as they $ill also 0ill the crop #he ma+or herbicide in use is called 2Glyphosate24 anyone $ho has gardened $ill 0no$ this as 2Roundup2 $hich is the mar0et name "or the product Bo$ever4 -otton4 -orn and (oybeans have been genetically modi"ied to contain an en1yme that brea0s do$n glyphosate #his ma0es these crops resistant to the herbicide Berbicide can then be use a"ter the crop has gro$n to prevent the reoccurrence o" $eed competition top

4.4.1< 'iscuss the potential &enefits and possi&le harmful effects of one e+ample of genetic modification.(3)
,iscuss means to give an account including4 $here possible4 a range o" arguments "or and against the relative importance o" various "actors4 or comparisons o" alternative hypotheses #he advantages and disadvantages o" GM/ is a controversial topic $ith $ide political4 environmental4 health and social e""ects #he "ollo$ing issues can be applied speci"ically to the above e'amples o" GM/ (he bene!its o! GM& include: )ncreased yields particularly in regions o" "ood shortage Hields o" crops $ith speci"ic dietary re>uirement such as vitamins and minerals -rops that do not spoil so easily during storage GM animals produce similar e""ect including higher meat yields

(he disad"antages or concerns about GM& usually can be !ound: #he "oods %animal and plant& are considered un5natural and unsa"e "or human consumption #here is a ris0 o" the escape o" 2genes2 into the environment $here they may be passed to other organisms $ith un0no$n e""ects top

4.4.11 'efine clone.(1)

de"ine means to give the precise meaning o" a $ord4 phrase or physical >uantity

(yllabus statement: 2 -lone: a group o" genetically identical organisms or a group o" cells derived "rom a single parent2

4.4.12 "utline a techni/ue for cloning using differentiated animal cells.(2)

/utline means to give a brie" account or sumarry

(omatic cells are di""erentiated that is specialised to a particular "unction )n the case o" ,olly %7<<A& the cell $as ta0en "rom the udder o" the original sheep %$& that $as to be cloned

(heep %%& provides the egg cell a"ter being stimulated to superovulated by the use o" the hormone 3(B

#he nucleus is removed "rom the egg cell #his removes the genetic in"ormation o" sheep %%&

#he cells are "used combining the nucleus o" sheep %$& $ith the egg cell "rom sheep%%& #he egg cell retains its ability to replicate chromosomes and divide by mitosis

#he cell is gro$n 2in5vitro2 until it reaches the7A cell stage this $ill then be implanted into a surrogate mother sheep

(heep %'& is the surrogate mother sheep and is not related to any o" the other sheep #here is a normal gestation period be"ore the 2-lone lamb2 is born

Lamb %-& is dolly the clone o" sheep %$& #hey are genetically identical Bo$ever they $ill e'perience a di""erent set o" environmental conditions )t should be noted that this techni>ue $as tried many times be"ore it $as success"ul

8.8.,- Discuss the ethical issues of therapeutic cloning in humans.9-:

,iscuss means to give an account including4 $here possible4 a range o" arguments "or and against the relative importance o" various "actors4 or comparisons o" alternative hypotheses #he discussion is about the creation o" an embryo to supply stem cells "or medical use Research $hat is meant by therapeutic cloning ,ecide $hat the ethical issues are in therapeutic cloning ;hat is an embryoL ;here $ould they be obtained "romL AlternativesL #ry to ma0e yoursel" a$are o" the stance o" interest groups on the issues

-.1.1 *+plain why digestion of large food molecules is essential.(3)

Most "ood molecules are large polymers and insoluble #hey must "irst be digested to smaller soluble molecules be"ore they can be absorbed into the blood


-.1.2 *+plain the need for en1ymes in digestion.(3)

En1ymes are biological catalysts that increase the rate o" reaction ,igestive en1ymes are secreted into the lumen o" the gut ,igestive en1yme increase the rate o" reaction o" the hydrolysis o" insoluble "ood molecules to soluble end products ,igestive en1ymes increase the rate o" reaction at body temperature

#his image illustrates the reduction in activation energy that is achieved by the use o" an en1yme Notice that the normal reaction re>uires a higher activation energy $hich $ould correspond to a high body temperature #his is usually not possible in living organisms

#he en1yme5catalysed reaction has a lo$er activation energy #his lo$er activation energy $ould correspond to body temperature but is only possible in the presence o" an en1yme


-.1.3 %tate the source# su&strate# products and optimum p3 conditions for one amylase# one protease and one lipase.(1)
E'ample 7 Pancreatic amylase:

-onditions: (ource the Pancreas /ptimal pB J 95J = (ubstrate is starch %amylose& End product is the disaccharide maltose Action: hydrolysis o" 75* glycosidic bonds

E'ample 2: Pepsin is a protease produced in the stomach -onditions: (ource is the stomach /ptimal pB is 2 (ubstrate is a polypeptide chains o" amino acids End product is small polypeptides Action is the hydrolysis o" peptide bonds $ithin the polypeptide chain %endopeptidase&

E'ample !: Pancreatic lipases:

(ource is the pancreas #he optimal pB is J 2 #he substrate is a triglyceride lipid #he product is glycerol and "atty acid chains

#he action o" pancreatic amylases also re>uires the presence o" bile salts that emulsi"y the lipid #his emulsi"ication has t$o e""ects: )ncreases the sur"ace area o" the lipid "or the digestion o" "at E'poses the glycerol 2head2 structure to the en1yme Action: hydrolysis o" ester bonds bet$een the glycerol molecules and the "atty acid chains top

7 2

-.1.4 'raw and la&el a diagram of the digestive system.(1)


-.1.! "utline the function of the stomach# small intestine and large intestine.(2)
$. )tomach: #he stomach stores the "ood "rom a meal and begins protein digestion

%a& Lumen o" the stomach $hich stores the "ood "rom a meal %b& Gastric pits "rom $hich mucus 4 en1ymes and acid are secreted %c& Mucus secreting cells Mucus protects the sur"ace o" the stomach "rom auto5digestion %d& Parietal cells that produce B-L $hich 0ills microorganism that enter the digestive system %"ood R tracheal mucus& #his also converts inactive pepsinogen to active pepsin %e& -hie" cells: produces pepsinogen a protease en1yme

%. small 6ntestine )n the small intestine digestion is completed #he products o" digestion are absorbed into the blood stream

%a& Villus $hich increase the sur"ace area "or absorption o" the products o" digestion

%b& Microvilli border o" the epithelial cell increases the sur"ace are "or absorption %c& Lacteals are connect to the lymphatic system "or the transport o" lipids %d& )n the $all o" the small intestine are the blood vessels to transport absorbed products to the general circulation4 #here are also the muscle to maintain peristalsis

'. Large 6ntestine or colon: #he colon is responsible "or the reabsorption o" $ater "rom the gut

%a& #he lumen o" the colon %b& #he mucus producing goblet cells %b& Muscular $alls to maintain peristalsis


-.1.- 'istinguish &etween a&sorption and assimilation.(2)

)nsoluble "ood molecules are digested to soluble products in the lumen o" the gut Absorption:

7 2

#he soluble products are "irst ta0en up by various mechanisms into the epithelial cells that line the gut #hese epithelial cells then load the various absorbed molecules into the blood stream

Assimilation: 7 2 #he soluble products o" digestion are then transported to the various tissues by the circulatory system #he cells o" the tissues then absorb the molecules "or use $ithin this tissues


-.1..*+plain how the structure of the villus is related to its role in a&sorption and transport of the products of digestion.(3)
#he structure o" the villus increases the sur"ace are "or the absorption o" digested "ood molecules %a& "olds increase (A:V/L ration by @! %b& Villi pro+ect into the lumen o" the gut increasing the sur"ace area by @ 76 %c& Microvilli are out$ard "olds o" the plasma membrane increasing the sur"ace area another @76

#his se>uence o" light microscope and electron micrograph images sho$ the same se>uence as the diagram above

1istological adaptations ;ithin the "illus.

Elood supply in the villus $hich absorb the end products o" digestion "rom the epithelial cells #he lacteals %green& that receive the lipoproteins be"ore transporting them to the circulatory system Muscular $alls that maintain

the movement o" chyme by peristalsis

-.2.1 'raw and la&el a diagram of the heart showing the four cham&ers# associated &lood vessels# valves and the route of &lood through the heart.(1)

Each atrium "ills $ith blood "rom the veins Ventricles are "illed $ith blood "rom their respective atria Elood e'its the ventricles %and heart& in arteries #he red arro$s suggest o'ygenated blood Elue arro$s represent deo'ygenated blood Elood enters the heart under lo$er pressure in veins4 it e'ists the heart in arteries under high pressure

Heart Valves Vales maintain a one $ay "lo$ o" blood Atrio5ventricular vales open to let blood "lo$ "rom atria to the ventricles #he atrio5ventricular valves close to prevent a bac0 "lo$ o" blood into the atria (emi5lunar valves open to allo$ high pressure blood to pulse into the arteries (emi5lunar valves close to prevent blac0 "lo$ o" blood into the ventricles "orm arteries #he le"t atrio5ventricular valve is also 0no$ as the bicuspid valve #he right atrio5ventricular valve is

also 0no$n as the tricuspid valve

Pressure o" blood to the le"t is greater than pressure to the right Valve "laps %cusps& pushed open Elood "lo$s to the right

#he pressure on the right is greater than the pressure on the le"t -usps pushed closed Eac0 "lo$ stops

-.2.2 %tate that the coronary arteries supply heart muscle with o+ygen and nutrients.(1)

#he heart has its o$n blood vessels Elood passing through the chambers o" the heart does not provide nutrient or o'ygen to the heart muscle cells -oronary arteries are branches o" the aorta $hich provide the heart muscle $ith a supply o" o'ygen and nutrient #he coronary arteries branch and spread through the heart muscle supplying the individual muscles cells

-.2.3 *+plain the action of the heart in terms of collecting &lood# pumping &lood# and opening and closing of valves.(3)


#he heart muscle is rela'ed this is called diastole #here is no pressure in the heart chambers Elood tries to "lo$ bac0 into the heart but closes the semi5lunar valves

Diastole Eoth atria "ill $ith blood returning to the heart in the veins #he right atria "ills $ith blood returning in the vena cava "rom the body tissues %deo'ygenated& #he atrio5ventricular valves are still closed and the atria "ill up ;hen the pressure in the atria is greater than the pressure in the ventricles the atrio5ventricular valves $ill open

Late Diastole )n this diagram the heart is still rela'ed %diastole& #he pressure o" blood returning to the heart and "illing the atria is no$ high enough to open the atrio5ventricular valves #he pressure in the atria is greater than the pressure in the ventricles Atrio5ventricular valves open Ventricles begin to "ill $ith blood

Atrial systole Eoth atria contract together %see control o" heart rate& #he muscles o" the atria contract volume o" the atria reduces Pressure o" blood increases Elood "lo$ into the ventricle4 "illing this chamber and causing the ventricle $all to stretch

Ventricular Systole #he ventricle contracts %systole& #he pressure increases in the ventricle #he atrio5ventricular valve closes #he pressure rises "urther Pressure in the ventricle is greater than the artery4 semi5lunar valve opens Elood pulses into the arteries

-.2.4 "utline the control of the heart&eat in terms of myogenic muscle contraction# the role of the pacema er# nerves# the medulla of the &rain and epinephrine (adrenaline).(2)

Myogenic muscle contraction describes the $ay the heart generates its o$n impulse to contract )t does not re>uire e'ternal nerve input

)n the $all o" the right atrium there are a group o" specialised cells%(AN& -ells o" the (ino5Atrial Node generate an impulse that can spread across the muscle cell o" both atria %red path$ay& #he impulse causes a contraction o" both atria together #he impulse cannot spread to the muscle cells o" the ventricles #he impulse is pic0ed up by a sensory ending called the atrio5ventricular node %AVN&

#he atria have already contracted sending blood do$n into the ventricles #he ventricles are stretched and "ull o" blood %A& #he impulse to contract %generated in the (AN& is pic0ed up by the AVN %E& #he impulse to 2contract2 travels do$n the septum o" the heart4 insulated "rom ventricle muscle "ibres %-& #he impulse emerges "irst at the ape' o" the heart #his causes this region to contract "irst %,& #he impulse no$ emerges higher up causing this region to contract %E& #his region contract last #he e""ect is to spread the contraction "rom the ape' up$ards4 pushing blood to$ards the semi5lunar valves

Modification of myogenic contraction #he basic myogenic contraction can be accelerated or slo$ed by nerve input "orm the brain stem or medulla #here are t$o nerves: ,ecelerator nerve %parasympathetic& $hich decreases the rate o" depolarisation at the (AN Note that the synapse releases acetyl choline Accelerator nerve %sympathetic& $hich accelerates the rate o" depolarisation at the (AN (ynapse releases nor5 adrenaline

Epinephrine (adrenaline) and heart rate #he hormone epinephrine is produced in the adrenal glands %an endocrine gland&

#he hormone travels through the blood to its target tissue4 the sino5atrial node%(AN& Epinephrine increases the rate o" depolarisation o" the (AN #his accelerates heart rate #his reaction is associated $ith the 2"ight or "light response2

-.2.! *+plain the relationship &etween the structure and function of arteries# capillaries and veins.(3).

a& Arteries have muscular $alls and outer layer o" collagen "or support #he collagen resists the e'pansion due to the high pressure o" blood #he muscle layer contracts on the pulse o" blood maintaining pressure all the $ay to the tissues b& Veins have carry blood under lo$ pressure the lumen is $ide to reduce the resistance to blood "lo$

c& -apillaries have only a single layer o" endothelium through $hich e'change can occur in the tissues

General functions of arteries and veins Arteries carry blood a$ay "orm the heart under high pressure Veins return blood to the heart under lo$er pressure -apillaries are the site o" e'change o" blood $ith tissue "luid and cells

-.2.- %tate that &lood is composed of plasma# erythrocytes# leucocytes (phagocytes and lymphocytes) and platelets.(1)

Plasma is largely $ater and ma0es up about 99M o" the total blood volume #his is the main transporting part o" blood and ta0es advantage o" the solvent properties o" $ater #he items listed to the le"t are sho$n "or discussion only

Erythrocytes are the red blood cells Leucocytes are the $hite blood cells Relative numbers are sho$n "or illustration purposes only

-.2.. %tate that the following are transported &y the &lood= nutrients# o+ygen# car&on dio+ide# hormones# anti&odies# urea and heat.(1)

#he items listed above ta0e advantage o" the properties o" $ater %as a solvent&: Nutrients -arbon dio'ide Bormones Antibodies Frea

or its thermal properties: heat

/'ygen and carbon dio'ide rely in the RE- "or their transport:

-.3.1'efine pathogen. (1)

A pathogen is an organism that can cause disease Pathogens include bacteria4 viruses4 protista4 "ungi and other parasitic multicellular organisms top

-.3.2 *+plain why anti&iotics are effective against &acteria &ut not against viruses.(3)

*ntibiotics bloc+ speci!ic metabolic path;ays !ound in bacteria@ but not in eu+aryotic cells.

#hese graphs sho$ ho$ the t$o 0inds o" drug %see belo$& a""ect bacterial gro$th curves

Eactericidal or "ungicidal antibiotics 0ill microbes /thers are antibiotics are static %bacteriostatic4 "ungistatic4 etc &4 $hich means they stop "urther gro$th4 but don2t 0ill e'isting cells Eoth are use"ul medically4 because i" the gro$th o" an in"ective pathogen is stopped4 the body2s immune system $ill be able to 0ill it Antibiotics can be selectively to'ic by targeting such "eatures as the bacterial cell $all4 J6( ribosomes4 and en1ymes that are speci"ic to bacteria )n this $ay the human eu0aryotic cells are una""ected

Airuses reproduce using the host cell metabolic path;ays that are not a!!ected by antibiotics. Viruses do not have metabolic path$ays li0e bacteria and there"ore antibiotics do not $or0 on viruses Viruses can only be treated by their speci"ic anti5microbial agent and antibiotics should never be prescribed "or viral in"ections %such as "lu&

-.3.3 "utline the role of s in and mucous mem&ranes in defence against pathogens.(2)
(0in : #he s0in is a tough outer layer called the epidermis4 $hich is 265!6 cells thic0 $hose cells are toughened by the protein 0eratin Eeneath this is the layer called the dermis %265*6 times thic0er& ma0ing up the main s0in layer and contains sensory receptor cells4 blood capillaries and hairs ,eeper do$n the s0in divides to produce ne$ cells $hich replace those lost "rom the sur"ace #he lining o" the lung is another $ay that pathogen can enter the body #he trachea4 bronchi and bronchioles are protected "rom in"ection by mucus to $hich various particles $hen inhaled /ther cells have cilia4 hair li0e e'tensions o" the cell membrane move the mucus up$ard to the epiglottis Bere the mi'ture o" mucus and micro5organisms are s$allo$ed do$n into the acid o" the stomach top

-.3.4 "utline how phagocytic leucocytes ingest pathogens in the &lood and in &ody tissues.(2)
#he second line o" de"ence is the non5speci"ic immune system4 a host o" >uic04 non5speci"ic methods o" 0illing microbes that have passed the "irst line o" de"ence and entered the body Phagocytes are large4 irregularly5shaped leu0ocytes that destroy bacteria4 viruses4 and dust particles #he phagocytes sho$ amoeboid movement4 constantly changing shape4 as they engul" microbes #he engul" vesicles +oin together to "orm phago1omes

#he phagosome then "uses $ith lysosomes $hich contain containing lyso1ymes #hese en1ymes 0illing and digesting the microbes #he process is called phagosytosis


-.3.! 'istinguish &etween antigens and anti&odies.(2)

*ntigen is o"ten used to describe something that has in"ected the body Bo$ever it is more accurate to describe them as "ollo$s: An antigen is a large molecule %protein4 glycoprotein4 lipoprotein or polysaccharide& on the outer sur"ace o" a cell All living cells have these antigens as part o" their cell membrane or cell $all #he capsid proteins o" viruses and even individual protein molecules can also be classed as antigens #heir purpose is "or cell communication4 and cells "rom di""erent individuals have di""erent antigens4 $hile all the cells o" the same individual have the same antigens Antigens are genetically controlled4 so close relative have more similar antigens than unrelated individuals Elood groups are an e'ample o" antigens on red blood cells4 but all cells have them

#he lin0 $ith in"ection is that $hen a pathogen or to'in enters the body it this that the immune system reacts against *ntibodies are proteins secreted "rom lymphocytes that destroy pathogen and antigen in"ections E5cells ma0e antibodies An antibody %also called an immunoglobulin& is a protein molecule that can bind speci"ically to an antigen Antibodies all have a similar structure composed o" * polypeptide chains %2 heavy chains and 2 light chains& +oined together by strong disulphide bonds to "orm a H5 shaped structure #he stem o" the H is called the constant region because in all immunoglobulin2s it has the same amino acid se>uence4 and there"ore same structure

#he ends o" the arms o" the H are called the variable regions o" the molecule because di""erent immunoglobulin molecules have di""erent amino acid structure and there"ore di""erent structures #hese variable regions are $here the antigens bind to "orm a highly speci"ic antigen5 antibody comple'4 much li0e an en1yme5substrate comple'

Each E5cell has around 76 9 membrane5bound antibody molecules on its sur"ace and can also secrete soluble antibodies into its surroundings Every human has around 76= di""erent types o" E cell4 each ma0ing antibodies $ith slightly di""erent variable regions Eet$een them4 these antibodies can there"ore bind speci"ically to 76= di""erent antigens4 so there $ill be an antibody to match almost every conceivable antigen that might enter the body


-.3.- *+plain anti&ody production. (3)

(a) #here are many di""erent lymphocytes

(b) #he antigen in"ects and is presented to the lymphocytes (c) #he lymphocyte $ith a sur"ace epitope complementary to the antigen is selected (d) #he Lymphocyte clones to produce many plasma cells #his occurs in the lymph nodes (e) #he clone o" plasma cells (!) #he gene "or the antibody is e'pressed and secreted into the plasma and tissue "luid (g) #he antibody circulated in body "luids destroying the in"ectious antigen


-.3.. "utline the effects of 3I> on the immune system.(2)

B)V is a virus that selectively in"ects Lymphocytes (a) ,i""erent lymphocytes (b) B)V virus (c) )n"ection as the virus attaches then enters the host lymphocyte (d) #he in"ected lymphocyte is 2disabled2 by the virus

(e) ;hen an antigen in"ection is presented the lymphocyte cannot produce antibodies (!) #he antigen is not challenged by the immune system and is able to "reely proli"erate #he conse>uence is that the in"ected individual $ill have no immune and develop that disease #here"ore an individual $ho is B)V Gve %in"ected & $ill eventually develop a disease $hich $ill go unchec0ed #he conse>uence is that that disease $ill severely damage the in"ected person and $ill eventually bring about their death top

-.3.: 'iscuss the cause# transmission and social implications of AI'%.(3)

A),(: *cBuired 6mmuno de!iciency syndrome Ac!uired relates the in"ectious nature o" A),( through the transmission o" the B)V virus "mmuno deficient relates to the $ay diseases cannot be resisted Syndrome relates to the variation in the $ay the disease mani"est itsel" People $ho develop A),( can be a a""ected by >uite di""erent set o" diseases

#ause: is the B)V retro5virus that selectively in"ects cells o" the immune system e""ectively disabling primary and secondary response to in"ection $ransmission% #hrough contact $ith the body "luids o" an in"ected person )n particular the "luids are blood and semen4 vaginal mucus #here is a very lo$ ris0 % almost 1ero& associated $ith salivary mucus

-.4.1 'istinguish &etween ventilation# gas e+change and cell respiration.(2)

7 Ventilation: #he "lo$ o" air in and out o" the alveoli is called ventilation and has t$o stages: inspiration %or inhalation& and e'piration %or e'halation& Lungs are not muscular and cannot ventilate themselves4 but instead the $hole thora' moves and changes si1e4 due to the action o" t$o sets o" muscles: the intercostal muscles and the diaphragm

2 Gas E'change:

#his is the di""usion o" gases %o'ygen and carbon dio'ide& #here are t$o sites "or gas e'change %a&Alveoli: /'ygen di""uses into the blood "rom the alveoli and carbon dio'ide di""uses "rom the blood into the alveoli

%b&#issues: /'ygen di""uses "rom blood into the cells and carbon dio'ide di""uses "rom cells to the blood

! -ell Respiration Aerobic respiration uses o'ygen in the mitochondria and produces carbon dio'ide Anaerobic respiration does not use o'ygen but still produces carbon dio'ide top

-.4.2 *+plain the need for a ventilation system.(3)

A ventilation system is needed to maintain concentration gradients in the alveoli #he steep concentration gradient across the respiratory sur"ace is maintained in t$o $ays: by blood "lo$ on one side and by air "lo$ on the other side #he ventilation system replaces di""uses o'ygen %0eeping the concentration high& and removes carbon dio'ide %0eeping the concentration lo$& #his means o'ygen can al$ays di""use do$n its concentration gradient "rom the air to the blood4 $hile at the same time carbon dio'ide can di""use do$n its concentration gradient "rom the blood to the air top

-.4.3 'escri&e the features of alveoli that adapt them to gas e+change.(2)
Large sur"ace area due to the combined spherical shape %A66 million alveoli : =6 m2& 3lattened epithelial cells o" alveoli and close association $ith capillaries

(hort di""usion distance "rom alveoli to blood %6 957 6 um& ,ense capillary net$or0 Moist sur"ace "or the solution o" gases


-.4.4 'raw and la&el a diagram of the ventilation system# including trachea# lungs# &ronchi# &ronchioles and alveoli.(1).

%a& #rachea %b& -artilage ring support %c& Eronchi %plural& Eronchus %single& %d& Lung %e& Beart %"& (ternum %g& Rib cage %h& Eronchioles %+& Alveoli %0& ,iaphragm

-.4.! *+plain the mechanism of ventilation of the lungs in terms of volume and pressure changes caused &y the internal and e+ternal intercostal muscles# the diaphragm and a&dominal muscles.(3)
#he diaphragm contracts and "lattens do$n$ards

#he e'ternal intercostal muscles contract4 pulling the ribs up and out this increases the volume o" the thora' this increases the lung and alveoli volume this decreases the pressure o" air in the alveoli belo$ atmospheric %Eoyle2s la$&air "lo$s in to e>ualise the pressure

#he diaphragm rela'es and curves up$ards the e'ternal intercostal

muscles rela'4 allo$ing the ribs to "all this decreases the volume o" the thora' this decreases the lung and alveoli volume this increases the pressure o" air in the alveoli above atmospheric %Eoyle2s la$&air "lo$s out to e>ualise the pressure #he abdominal muscles contract4 pushing the diaphragm up$ards #he internal intercostal muscles contract4 pulling the ribs do$n$ard #his gives a larger and "aster e'piration4 used in e'ercise

-.!.1 %tate that the nervous system consists of the central nervous system (C(%) and peripheral nerves# and is composed of cells called neurons that can carry rapid electrical impulses.(1)


-.!.2 'raw and la&el a diagram of the structure of a motor neuron.(1)

Electron micrograph cross section

A neuron has a cell body $ith e'tensions leading o"" it Numerous dendrons and dendrites provide a large sur"ace area "or connecting $ith other neurons4 and carry nerve impulses to$ards the cell body A single long a'on carries the nerve impulse a$ay "rom the cell body #he a'on is only 76Sm in diameter but can be up to *m in length in a large animal %a piece o" spaghetti the same shape $ould be *66m long&K Most neurons have many companion cells called (ch$ann cells4 $hich $rap their cell membrane around the a'on many times in a spiral to "orm a thic0 insulating lipid layer called the myelin sheath Nerve impulse can be passed "rom the a'on o" one neuron to the dendron o" another at a synapse A nerve is a discrete bundle o" several thousand neuron a'ons

Bumans have three types o" neuron: (ensory neurons have long a'ons and transmit nerve impulses "rom sensory receptors all over the body to the central nervous system Motor neurons also have long a'ons and transmit nerve impulses "rom the central nervous system to e""ectors %muscles and glands& all over the body )nterneurones %also called connector neurons or relay neurons& are usually much smaller cells4 $ith many interconnections

-.!.3 %tate that nerve impulses are conducted from receptors to the C(% &y sensory neurons# within the C(% &y relay neurons# and from the C(% to effectors &y motor neurons.(1)

#here are various receptor around the body such as s0in and the eye (timuli %thin0 o" them as energy "orms& are detected by the

receptors and turned into an nerve impulse %chemical energy& Nerve impulses "rom sensory nerves are conducted to the central nervous system along sensory neurons #he impulse is sent to the relay neurons that move it around inside the central nervous system %brain and spine&

Motor neurons ta0e the relayed nerve impulse to the e""ectors %o"ten muscles& $hich then produce the response #his is a cross section through the vertebrate spinal column #he receptor is deep in the biceps muscle (ensory neuron conducts nerve impulses "rom the receptor to the

central nervous system #he relay nerve conduct the impulse through the spinal cord and in a re"le' bac0 to the motor neuron #he motor neuron connects to the e""ector $hich in this case is the biceps muscle


-.!.4 'efine resting potential and action potential (depolari1ation and repolari1ation).(1).
#o record the electrical activity o" a nerve it is placed in an isotonic "luid bath A re"erence electrode is placed in the surrounding "luid A recording electrode is inserted into the

cytoplasm o" the a'on #he electrical disturbances are measured and displayed on the oscilloscope

Membrane potentials:

Resting potential is the negative charge registered $hen the nerve is at rest and not conducting a nerve impulse *ction potential is the positive electrochemical charge generated at the nerve impulse Normally this is seen as the 2mar0er2 o" the nerve impulse position 2epolarisation is a change "rom the negative resting potential to the positive action potential Re7polarisation is the change in the electrical potential "rom the positive action potential bac0 to the negative resting potential


-.!.! *+plain how a nerve impulse passes along a non4myelinated neuron.(3).

#o understand the Resting Potential and Action Potential "irst consider an ion pump "ound in the plasma membrane

)odium7Potassium *(Pase #his uses the energy "rom A#P splitting to simultaneously pump ! sodium ions out o" the cell and 2 potassium ions in )" this $as to continue unchec0ed there $ould be no sodium or potassium ions le"t to pump4 but there are also sodium and potassium ion channels in the membrane #hese channels are normally closed4 but even $hen closed4 they Clea0D4 allo$ing sodium ions to lea0 in and potassium ions to lea0 out4 do$n their respective concentration gradients #he combination o" the Na G. GA#Pase pump and the lea0 channels cause a stable imbalance o" Na G and . G ions across the membrane #his imbalance causes a potential di""erence across all animal cell membranes4 called the mem&rane potential #he membrane potential is al$ays negative inside the cell4 and varies in si1e "rom T 26 to T266 mV in di""erent cells and species #he Na G.G A#Pase is thought to have evolved as an osmoregulator to 0eep the internal $ater potential high and so stop $ater entering animal cells and bursting them Plant cells donUt need this as they have strong cells $alls to prevent bursting

Resting 4otential ; Action 4otential

)n nerve and muscle cells the membranes are electrically e'citable4 $hich means that they can change their membrane potential4 and this is the basis o" the nerve impulse #he sodium and potassium channels in these cells are voltage'gated4 $hich means that they can open and close depending on the voltage across the membrane Early e'periments on nerves "ocused on the non5myelinated S!uid Giant A(on An electrodes is placed inside the cell and one outside the cell %re"erence& #he electrodes are attached to an oscilloscope #he nerve cell is stimulated to generate a nerve impulse and the voltage change recorded on the oscilloscope

#he normal membrane potential o" these nerve cells is TJ6mV %inside the a'on&4 and since this potential can change in nerve cells it is called the resting potential. ;hen a stimulating pulse $as applied a brie" reversal o" the membrane potential4 lasting about a millisecond4 $as recorded #his brie" reversal is called the action potential: RP: Resting Potential ,P: ,epolarisation AP: Action Potential ReP: Re5polarisation R3P: Re"ractory Period #B: #hreshold

#he Action Potential has t$o stages depolarisation %2P& and Re5polarisation%ReP&

2epolarisation %2P& #he stimulating electrodes cause the membrane potential to change a little #he voltage5gated ion channels can detect this change4 and $hen the potential reaches T !6mV((1) the sodium channels open "or 6 9ms #he causes sodium ions to rush in4 ma0ing the inside o" the cell more positive #his phase is re"erred to as a depolarisation since the normal voltage polarity %negative inside& is reversed %becomes positive inside&

Re7polarisation %ReP& #he membrane potential reaches 6V #he potassium channels open "or 6 9ms4 causing potassium ions to rush out #his ma0es the inside more negative again (ince this restores the original polarity4 it is called re5polarisation

1o; the ner"e impulse tra"els along the a<on: /nce an action potential has started it is moved %propagated& along an a'on automatically #he local reversal o" the membrane potential is detected by the surrounding voltage5 gated ion channels4 $hich open $hen the potential

)ection a) Re!ractory potential: #he a'on is in a re"ractory %ReP&period $hich means that di""usion bac0$ards o" NaG "rom the action potential is not able to depolarise the membrane channels #his means the impulse travels in one direction )ection b) *ction Potential: #he voltage gates have been opened and there is a high concentration o" NaG in the a'on #his di""uses to the ne't set o" voltage gates depolarising "rom resting potential )ection c: Resting potential: #he NaG$ill di""use to this position )" the voltage reaches threshold %(1& then the channel $ill open NaG$ill "lood in and a ne$ action potential site $ill be established (hreshold ((1): #he ion channels are either open or closed? there is no hal"5$ay position #his means that the action potential al$ays reaches G*6mV as it moves along an a'on4 and it is never attenuated %reduced& by long a'ons )n other $ord the action potential is all5 or5nothing

Re !actory Period (ReP): A"ter an ion channel has opened4 it needs a Crest periodD be"ore it can open again #his is called the re"ractory period4 and lasts about 2 ms #his means that4 although the action potential a""ects all other ion channels nearby4 the upstream ion channels cannot open again since they are in their re"ractory period4 so only the do$nstream channels open4 causing the action potential to move one5$ay along the a'on #he delay caused by re"ractory period also prevents the summation o" Action potentials %one impulse cannot catch up another impulse&

1uman Ner"e propagation: )t should be noted that the description given above o" nerve conduction is "or a s>uid giant a'on #his is a typical arrangement in the invertebrates #o increase the rate o" nerve conduction the a'on diameter is increased Bo$ever4 vertebrates have a di""erent method o" accelerating their nerve conduction but this is not part o" the )E syllabus "or this particular unit Hou can ho$ever read about this method o" nerve conduction called saltatory conduction top

-.!.- *+plain the principles of synaptic transmission.(3)

#he +unction bet$een t$o neurons is called a synapse An action potential cannot cross the synaptic cle"t bet$een neurons4 and instead the nerve impulse is carried by chemicals called neurotransmitters #hese chemicals are made by the cell that is sending the impulse %the pre5synaptic neuron& and stored in synaptic vesicles at the end o" the a'on #he cell that is receiving the nerve impulse %the post5synaptic neuron& has chemical5 gated ion channels in its membrane4 called neuroreceptors #hese have speci"ic binding sites "or the neurotransmitters 7 At the end o" the pre5synaptic neuron there are voltage5gated calcium channels ;hen an action potential reaches the synapse these channels open4 causing calcium ions to "lo$ into the cell 2 #hese calcium ions cause the synaptic vesicles to "use $ith the cell membrane4 releasing their contents %the neurotransmitter chemicals& by e'ocytosis ! #he neurotransmitters di""use across the synaptic cle"t * #he neurotransmitter binds to the neuroreceptors in the post5synaptic membrane4 causing the channels to open )n the e'ample sho$n these are sodium channels4 so sodium ions "lo$ in 9 #his causes a depolarisation o" the post5synaptic cell membrane4 $hich may initiate an action potential

A #he neurotransmitter is bro0en do$n by a speci"ic en1yme in the synaptic cle"t? "or e'ample the en1yme acetylcholinesterase brea0s do$n the neurotransmitter acetylcholine #he brea0do$n products are absorbed by the pre5synaptic neuron by endocytosis and used to re5synthesis more neurotransmitter4 using energy "rom the mitochondria #his stops the synapse being permanently on


-.!.. %tate that the endocrine system consists of glands that release hormones that are transported in the &lood.(1)
#he gland secretes these hormones into the blood stream #he hormone travels in blood to the target tissue %e""ector& that brings about a response #he response modi"ies the internal environment and this becomes "eedbac0 stimuli


-.!.: %tate that homeostasis involves maintaining the internal environment &etween limits# including &lood p3# car&on dio+ide concentration# &lood glucose concentration# &ody temperature and water &alance.(1)
Bomeostasis involves maintaining the internal environment %tissue "luid4 blood& bet$een limits E'amples: Elood pB Elood carbon dio'ide levels blood glucose concentration body temperature $ater balance top

-.!.; *+plain that homeostasis involves monitoring levels of varia&les and correcting changes in levels &y negative feed&ac mechanisms.(3)

#his model represents the main "eatures o" a negative "eedbac0 model (pecialised receptors detect changes $ithin the internal conditions #his in"ormation is relayed to a central coordinator that determines the level o" response #he coordinator in turn relays such a decision to the e""ector that is specialised to produce the response behaviour Notice that this response $ill modi"y the internal environment and that these ne$ conditions $ill in turn become the ne$ stimuli #he cycle $ill continue until conditions are reduced bac0 to $ithin narro$ acceptable limits %"i'ed regulation point& Notice that system $or0s responding to conditions $hich are lo$er than and higher than the "i'ed regulation point Very e""icient systems allo$ very little in the $ay o" undershoot and overshoot

#his model is an alternative representation o" the negative "eedbac0 cycle but this time emphasising the deviation "rom a "i'ed regulation point


-.!.1< *+plain the control of &ody temperature# including the transfer of heat in &lood# and the roles of the hypothalamus# sweat glands# s in arterioles and shivering.(3).
#he control o" body temperature includes the trans"er o" heat in blood4 the role o" s$eat glands and s0in arterioles4 and shivering

Model o" temperature control: #he sensors are "ound in the

hypothalamus E""ectors are "ound in the s0in and in muscles #he "i'ed point "or regulation is around !J = degrees centigrade

Note the particular "eatures o" s0in $hich are involved in temperature regulation: Bairs $ith the erector Pilli muscle ($eat glands Elood arterioles #he s0in is an e""ector in the control o" body temperature )t is particularly important to prevent cooling or overheating o" the core %essential organs and brain&

(he hypothalamus as the co7ordinator o! temperature regulation: Aasoconstriction: is a cold adaptation narro$ing o" arterioles that reduces blood "lo$ to the sur"ace o" the s0in is coupled $ith a dilation o" the hori1ontal shunt vessels #his prevents heat loss "rom blood near the s0in sur"ace and retains heat in the body core "or essential organs Aasodilation: is an adaptation to $arm conditions in $hich arterioles dilate sending more blood closer to the s0in sur"ace "rom $here heat can be radiated to the surrounding environment #he hori1ontal shunt vessels are constricted sending most blood closer to the s0in sur"ace Additionally s$eat %mainly $ater& is released onto the sur"ace o" the s0in $here it enters the vapour phase $hen $armed by the heat carried by blood #here"ore the vapour o" s$eat carried a$ay heat energy "rom blood #old: $hen cold the "ollo$ing events occur to reduce heat loss and raise temperature Lo$er than regulation temperature blood reaches the hypothalamus #he hypothalamus signals the vasoconstriction %narro$ing& o" arterioles Muscle e""ectors are produces the rapid contraction rela'ation o" muscles 0no$n as shivering $hich produces more body heat 1ot: ($eat is secreted onto the sur"ace o" s0in $hen body temperature is high ($eat is largely composed o" $ater $hich has a high speci"ic heat capacity %absorbs a heat easily& Eody heat is trans"erred "rom s0in and blood to the s$eat #he s$eat evaporates trans"erring heat a$ay and in doing so cools the body

Bair and temperature control: )n $arm $eather the erector5pilli muscle are rela'ed and the hairs lie "lat #his prevents a build up o" a 2boundary layer2 o" $arm air Air movement $ill "urther accelerate the loss o" heat )n cold $eather the erector5pilli muscle contracts and the hair moves vertical #his traps a 2boundary layer2 o" $arm air that reduces the temperature gradient and in turn reduces heat loss /ther longer term adaptations ta0e place $hen e'posed to continuously high or lo$ temperatures #hese e""ects are o"ten lin0ed to the metabolic rate o" the organism and are atleast in part in"luenced by the endocrine system ;hilst a signi"icant mechanism "or the control o" heat loss in many mammals the relatively hairless body o" humans derives very little bene"it "rom this mechanism top

-.!.11 *+plain the control of &lood glucose concentration# including the roles of glucagon# insulin and ? and @ cells in the pancreatic islets.(3)
Elood sugar concentration is regulated "or a number o" reason amongst $hich: /smosis content o" a tissue is determined by the concentration o" the surrounding tissues Respiration: (ome tissues are entirely dependent on blood sugar as a respiratory substrate being unable to either store glucose o" metabolise "at Model: a& Lo$ glucose concentration is detected by the pancreas b& Alpha cells in the pancreatic islets secret glucagon

c&Glucagon "lo$s through the blood to receptors on liver cells d&Liver responds by adding glucose to blood stream h& Bigh blood glucose levels stimulate the beta pancreatic cells a& Eeta pancreatic cells secrete insulin "&)nsulin "lo$s through the blood to the receptors on liver cells g&)nsulin stimulates the liver to remove blood glucose and store this as glycogen %insoluble&

Elood sugar regulation alternative diagram %labels correspond to both diagrams& Note "rom the second diagram that the glucose levels remain $ithin a set o" narro$ limits #he regulation point "or blood glucose is around 9 mmol dm5! #he response and change in blood glucose levels becomes the ne$ stimuli "or receptors #his is a typical "eedbac0 control

Additional "eatures o" blood sugar regulation: )nsulin stimulates the 2glucose5transporter molecules2 in the cell membrane o" liver cells to ta0e up glucose )nsulin is responsible "or the conversion o" glucose to glycogen but also to "at )nsulin stimulates the incorporation o" 2glucose5transporter molecules into the cell membrane o" the muscle cells #hen the glucose is ta0en up and stored as glycogen as in the liver Muscles $ill store around <66g o" glycogen in comparison to the average 766 g in the liver

Adipose %"at cells& are also stimulated to ta0e up the glucose and begin its conversion to "at Almost all cells are in"luenced in this $ay by insulin4 e'cept that is "or the cells o" the nervous system $hich re>uire a constant blood glucose level A"ter the absorption o" glucose most cells $ill s$itch their metabolism to the beta o'idation o" "at and preserve their glycogen stores #his cannot be done by the cells o" the nervous system $hich o" course is another reason to maintain blood sugar levels

As0 around your class "or people $ho $hilst not diabetics e'perience mild hyperglycaemia or have e'perienced this as on the odd occasion #hey $ill describe that i" they do not eat regularly that they e'perience muscle $ea0ness4 lethargy4 mild visual disturbance #he interesting "eatures are those that a""ect their nervous system and have some remar0able resemblance to mild migraine symptoms top

-.!.12 'istinguish &etween type I and type II dia&etes. (2)

(ype 6 diabetes (early or u"enile onset): Auto5immune disease in $hich the beta5cells pancreatic are destroyed Fnable to produce insulin Responds $ell to regular in+ection o" insulin probably manu"actured as the genetically engineered humulin.

(ype 66 diabetes (*dult onset): Reduced sensitivity o" the liver cells to insulin Reduced number o" receptors on the liver cell membrane

)n both types o" diabetes there is: a build o" glucose in the blood stream and it $ill then subse>uently appear in urine %test $ith a !linistic & Bigh concentrations o" blood glucose %hyperglycaemia& results in the movement o" $ater "rom cells by osmosis #his e'tra "luid in the blood results in larger >uantities o" urine production A lac0 o" glucose in cells means that "ats then proteins have to be metabolised in respiration Particularly the brea0do$n o" protein "or energy creates organ damage

-.-.1 'raw and la&el diagrams of the adult male and female reproductive systems.(1)
Male reproductive system:

3emale reproductive system:


-.-.2 "utline the role of hormones in the menstrual cycle# including A%3 (follicle stimulating hormone)# ,3 (luteini1ing hormone)# estrogen and progesterone.(2).
(e'ual maturity in $omen is mar0ed by the beginning o" the menstrual cycles #hese cycles coordinate the development and release o" an egg $ith the conditions re>uired in the uterus to support a pregnancy #he cycle is controlled by hormones "rom both the brain %3(B and LB& and the ovary%oestrogen and progesterone& #he natural cycle repeats until there is either a pregnancy or the $oman reaches menopause and the end o" the reproductive phase o" her li"e 3(B and LB are t$o hormone that are active at signi"icant phases o" human development including primary and secondary se'ual characteristics #hey are both signi"icant hormones in the primary se' determination 3ollo$ing puberty human become "ertile and in "emales this is mani"est as the menstrual cycle

Anterior 4ituitary <ormones%

,ollicle )timulating hormone (,)1) (timulates the development o" a primary "ollicles %oocytes& )ncreases the number o" "ollicular cells $hich in turn produce oestrogens Produces "ollicular "luids ,evelops the oocyte in the "ollicle

Luteinising 1ormone (L1): surges in mid cycle %72 days& to bring about ovulation high LB is associated $ith a resumption o" meiosis in the oocyte Meiosis has been arrested in Prophase ) since the embryonic stage /nly at the point o" "ertilisation does meiosis complete stimulates the development o" the corpus luteum

"varian 3ormones
&estrogen: (timulates the development o" the endometrium %lining o" the uterus& and it associated blood supply ,uring the "irst hal" o" the cycle there is positive "eedbac0 through increased sensitivity o" the "ollicle cells to 3(B %Fp5regulation o" receptors on the "ollicular cell plasma membrane& ,uring the second hal" o" the cycle %high oestrogen& there is negative "eedbac0 on 3(B and LB

Progesterone: maintains the lining o" the endometrium negative "eedbac0 on 3(B and LB top

-.-.3 Annotate a graph showing hormone levels in the menstrual cycle# illustrating the relationship &etween changes in hormone levels and ovulation# menstruation and thic ening of the endometrium.(2 )
a& 3ollicle

(timulating Bormone %3(B& is secreted by the pituitary gland o" the brain and stimulates the development o" a primary "ollicle %b& Primary "ollicle cells secrete oestrogen $hich in turn increase the secretion o" 3(B in a positive "eedbac0 %c& #he oestrogen thic0ens the lining o" the uterus in preparation "or a "ertilised egg %d& #he pea0 o" oestrogen secretion at day 72 causes the pituitary to release a surge o" LB #his loosens the no$ mature egg $hich is released in ovulation LB reduces the secretion o" /estrogen

LB stimulates the empty "ollicle to develop into the corpus luteum

e& Progesterone and oestrogen together stop any more LB and 3(B being secreted "rom the pituitary %negative "eedbac0& #his prevents "urther "ollicle development or ovulation

%"& Progesterone maintains the lining o" the thic0ened endometrium in preparation "or the implantation o" a "ertilised egg %g& )" implantation does not ta0e place then the -orpus luteum degenerates and "ails #he progesterone production stops #he endometrium brea0s do$n and the 2menstrual period2 begins #he inhibition o" 3(B and LB by ovarian hormones has been removed and so they begin their secretions again o" 3(B A ne$ cycle has begun top

-.-.4 ,ist three roles of testosterone in males.(1)

7 ;ee0 J o" embryonic development4 testosterone initiates the development o" male genitalia 2 Around mid teens4 testosterone initiates the development o" secondary se'ual characteristics increase in muscle mass increase in the length o" the long bones %height& increase in the length o" the vocal cords %voice deepens& spermatogenesis

gro$th o" the penis and testis

! Post puberty testosterone maintains the production o" sperm cells and the male se' drive top

-.-.! "utline the process of in vitro fertili1ation (I>A).(2)

/ne o" the common reasons that a couple cannot produce a pregnancy is the lo$ sperm count o" the male #his can be recti"ied by concentrating the male sperm be"ore being placed into the uterus o" the "emale using a catheter /ther reasons "or in"ertility include stenosis %bloc0age& o" the cervi' $hich again can be overcome by simple procedures and the mechanical introduction o" sperm through this passage %as above& )n more comple' cases o" in"ertility it is necessary to "ertili1e the egg cell outside o" the body be"ore introducing the embryos into the uterus "or implantation /ne o" the assisted reproductive technologies is called 2)n Vitro "ertilisation2 or )V3 3irst per"ormed by (ir Robert ;inston in 7<J= /ldham England Louise Ero$n $as the "irst o" millions o" 2test tube babies2 #he "irst stage o" the techni>ue maybe preceded by the ta0ing o" inhibitors o" 3(B and LB but this stage maybe missed through monitoring using ultrasound


-.-.- 'iscuss the ethical issues associated with I>A.(3)

Advantages o" )V3: there are as many reasons "or this treatment as there are people see0ing this treatment As e'amples over comes in"ertility allo$ "amilies "or people $ho must be sterilised e g cancer patients

radiography8chemo therapy

,isadvantages o" )V3: $hat happens to un$anted embryo2s $hat happens to orphaned embryo2s should in"ertility be by5passed