1.

The structure of a gene provides the code for a polypeptide

2. Describe the processes involved in the transfer of information from DNA through RNA to the
production of a sequence of amino acids in a polypeptide
DNA has deoxyribose sugar and is very long and double stranded and has thymine
RNA has ribose sugar is very short and single stranded and has uracil

Transcription: a portion of DNA unwinds due to the enzyme helicase. RNA polymerase uses one strand of
the unwound DNA to synthesize mRNA to produce an exact copy. It copies from 3’ to 5’, attaching loose
RNA nucleotides to the DNA with A, U, C and G. The mRNA then moves from the nucleus to the cytoplasm.

Translation: the mRNA binds to a ribosome in the cytoplasm, which reads the start codon AUG. the
ribosome moves along the mRNA strand and tRNA molecules which have the anti-codons complementary
to the codons of the mRNA enter the ribosome. The tRNA attaches to the ribosome by the anticodon and it
releases its amino acid to form a polypeptide chain (amino acids with peptide bonds). The tRNA then goes
back to the nucleus to carry more amino acids to the ribosome until the stop codon is read. The
polypeptide is then released into the cytoplasm where it becomes a protein (after further processing).
 3. Choose equipment or resources to perform a first-hand investigation to construct a model of DNA
Aim: to model DNA and gain a clear molecular idea of the structure of DNA using different materials for the
ribose sugar, phosphate and nitrogenous bases. The model should also be used to show replication, slicing
and other functions involving the DNA double helix

4. Process information from secondary data to outline the current understanding of gene expression
A gene is fully expressed when its polypeptide is synthesised, converted to a protein and the protein is fully
functional.

Gene expression can be regulated, or stopped, within eukaryotic cells (NOT prokaryotes)
- DNA is packed around histones, and very tightly packed DNA contains genes that are permanently
switched off and therefore not expressed.
- DNA unpacking: the addition of methyl groups can stop gene expression and the addition of acetyl
groups loosens the DNA from the histones and allows it to be copied more frequently. (methylation
of DNA or acetylation of histone groups)
- DNA transcription: in eukaryotes, each gene has its own promoter region which controls gene
expression. At this stage of gene expression, DNA is transcribed by RNA polymerase and its
promoter may be activated by the presence or absence of a chemical in the cell. The control
elements (non-coding DNA) bind to the transcription factors (proteins) and the promoter to
initiate the activity of RNA polymerase. Transcription factors decide whether or not the gene should
be copied or not. E.g. transcription factors + promoter means that RNA polymerase can’t bind to
the promotor OR the opposite: transcription factors + regulatory region upstream of promotor to
cause RNA polymerase to come and bind to the promotor and hence copy the gene. The non-
coding strand is copied 3’ to 5’ to produce a coding strand 5’ to 3’
 - mRNA regulation: the average length of a gene along a DNA molecule is 8000 bases, however only
1200 nucleotides are required to produce a protein of 400 amino acids. Therefore, there are non-
coding nucleotides which are interspersed among the coding nucleotides. The coding parts are
called exons and they are kept, while the introns (non-coding nucleotides) are cut out. The exons
are then stuck together or spliced. (EXons are EXpressed). The ends of the transcribed mRNA are
‘capped’ with protective nucleotides to help the mRNA attach to the ribosome. During splicing, an
exon or intron may be skipped and this results in variation in protein production (alternative
splicing)
- Translation: if specific proteins bind to the mRNA, it cannot attach to the ribosomes
- Protein product degradation: if the cell doesn’t need it anymore, the protein can be broken down

For transcription to occur, the RNA polymerase must be active. This requires RNA polymerase, the
promoter, transcription factors and control elements.
- RNA polymerase: is an enzyme that is responsible for making RNA from a DNA template
- Promoter: regulatory area at the start of the gene that acts as the binding site for RNA polymerase.
It is also known as the TATA box as it contains thymine and adenine nucleotides.
- Transcription factors: proteins that bind to DNA

PROKARYOTIC CELLS
- Genes with similar or related functions are often organised into operons

Operon, regulator gene, operator gene

The main site of control of gene expression is during transcription. A regulator gene produces a protein
that affects the activity of other genes and switches off transcription of a structural gene. The product of a
regulator gene is a repressor protein. The repressor protein is activated when the structural gene product
is not required. It binds to the operator, thus blocking the promoter, stopping the action of RNA
polymerase. When the polypeptide product of the structural gene is required, the repressor is released and
RNA polymerase is able to transcribe the operon.

The Lac Operon

- Involves the transcriptional regulation of the genes used to ferment lactose in the bacterium E. coli
- The unit consisting of the lac promotor, lac operator and the lac structural genes (of B-galactosidase,
permease and transacetylase) is called the lac operon
- Near it (but not directly adjacent) is the regulator gene which codes for the mRNA which produces the
lac repressor protein
- The lac operon is only turned on during specific conditions
- Enzymes are only transcribed when lactose is present  therefore inducible
 - When lactose is present, the lac operon is turned ON in order to break it down
WITHOUT LACTOSE
- The lac repressor protein is active and it binds to the lac operator (which is next to the genes which
code for the enzymes aka structural genes)
- Then RNA polymerase is then not able to recognise the lac promotor, and hence not able to copy the
DNA strand and no transcription of structural genes occurs
WITH LACTOSE
- Some of it is converted to allolactose (via beta-galactosidase) which binds to the repressor molecule
and causes a conformational change
- This change in shape of the lac repressor (now inactive) means that it cannot bind to the lac operator
site
- The RNA polymerase can then bind to the promotor and the mRNA can transcribe the structural
genes
- This mRNA codes for B-galactosidase, permease and transacetylase proteins
- These contribute to the breakdown of lactose

The Tryp Operon

- This is the operon showing the basic structures for the production of TRYPTOPHAN – an essential
amino acid
- The regulator gene produces a regulator protein called an inactive repressor. It is produced to not
fit into the operator. This is so the RNA polymerase can attach to the promoter and make
tryptophan
- When the enough tryptophan has been produced, it will start to build up. When the inactive
repressor is produced, the tryptophan will bind to the repressor protein, and alter its molecular
shape. This activates the repressor, so that it can now fit into the operator region and bind to it.
This stops the RNA polymerase from moving, preventing the production of anymore tryptophan
5. Multiple alleles and polygenic inheritance provide further
variability within a trait
6. Given examples of characteristics determined by multiple alleles in an organism other than
humans

Tabby cats:
Ta is dominant over T but T is dominant over tb
Himalayan rabbits

Co-dominance in roan cows

Incomplete dominance in roses

 7. Compare the inheritance of the ABO and Rhesus blood groups
8. Solve problems to predict the inheritance patterns of ABO blood groups and Rhesus factor

Blood type Alleles/ Antigen (antibody Donate to Receive from

Genotype generator)
A IA IA , IAi A antigen A A, O
B B B
B I I ,I i B antigen B B, O
A B
AB II A and B antigen AB A, B, AB, O
O ii No antigen A, B, AB O
O can be given to anyone – universal donor (has no antigens present)
Universal acceptor: AB (has both antigens present, will not react to anything)
If given the wrong type of blood, the antibodies will attack
Rhesus factor:
- Surface protein present on the surface of the blood cells
- Rhesus negative (Rh-): no surface protein present, antibodies against the Rh antigen
- Rhesus positive (Rh+): have the Rh antigen on their red blood cells
- Positive can accept negative but negative cannot accept positive (blood transfusions)
- Poses no real problems with blood transfusions unless female carrying child
o Mothers blood doesn’t come into contact with the foetal blood unless the placenta ruptures
at birth and the foetal blood cells enter the mother’s blood stream
o When rhesus negative person (mother) gets exposed to rhesus positive (through their child),
they develop antibodies to attack them
o If the RH- mother has another Rh+ child, then the antibodies in their blood can pass through
the placenta and attack the baby’s blood cells
o To overcome this, the mother can be given an Rh antibody injection to attack the Rh
antigens before the immune system

9. Define what is meant by polygenic inheritance and describe one example of polygenic inheritance
in humans or another organism
10. Process information from secondary sources to identify and describe one example of polygenic
inheritance
Polygenic inheritance: multiple genes contributing to the same phenotypic trait
e.g. human height  influenced by parents, diet, environment, sleep patterns etc.
increased # of genes  increased # of gene possibilities  increased # of possible phenotypes
Continuous variation: variation within a population in which a graded series of intermediate phenotypes
falls between the extremes e.g. human height
Normal distribution: a function that represents the distribution of many random variables as a symmetrical
bell-shaped graph e.g. human height
Discontinuous variation: where people fall into a number of distinct classes or categories. It's based on
features that cannot be measured across a complete range i.e. the characteristic is either present or not
e.g. multiple alleles  tabby cat is either Abyssinian or blotched
Multiple alleles: different versions of the same gene (more than 3)
e.g. tabby cat coat colour (Abyssinia, Mackerel and Blotched)
Incomplete dominance results in a blended phenotype
e.g. red and white roses  pink flowers

11. Outline the use of highly variable genes for DNA fingerprinting or forensic samples, for paternity
testing and for determining the pedigree of animals
Bacteria protect themselves against invading viruses by using restriction enzymes
- Attack the viral DNA by cutting it into pieces
- Will only cut a particular sequence
- Protect their own DNA by adding a methyl group to that sequence where it occurs
DNA fingerprinting method was based on the discovery that certain genes are highly variable
1) Obtain DNA from cells or tissues e.g. hair, skin, blood, saliva etc.
2) Pour restriction enzymes into DNA to cut it into fragments
3) Fragments are separated by gel electrophoresis: place the DNA on a plate of gel and apply an
electrical current across the gel. Since DNA is negatively charged, it moves towards the positive
electrode. The smaller the fragment, the faster it moves, so the fragments separate themselves
according to size
4) The separated fragments are analysed by Southern blotting, where a sheet of nitrocellulose paper
membrane is placed over the gel and covered with filter paper. The strands in each DNA segment
are separated and a radioactively labelled gene probe is added
5) The membrane is placed on an X-ray film, which makes an image on the film, showing where the
bands are located
6) This produces a genetic fingerprint
It is a highly reliable test, producing a 1 in 10 million chance of error. These fingerprints can be used to
determine a person’s identity e.g. murder weapon. This method is based on the discovery that certain
genes are highly variable, and when cut using the same restriction enzyme, each person would have their
own unique set of fragments because of these variable regions

12. Studies of offspring reflect the inheritance of genes on

different chromosomes and genes on the same chromosomes
13. Use the terms ‘diploid’ and ‘haploid’ to describe somatic and gametic cells
Somatic cell: body cell (not sex cell), have a double set of chromosomes and are diploid (2n)
Gonads: ovaries and testes contain germ line cells, which divide by meiosis to produce gametic cells
Gametes: have a single set of chromosomes and are haploid (n)
When a sperm fertilises an egg, they form a diploid zygote, which splits by mitosis to give diploid somatic
cells. This ensures that all of the resulting daughter cells are genetically identical

14. Describe outcomes of dihybrid crosses involving simple dominance using Mendel’s explanations
Monohybrid cross when we look at one pair of genes and their inheritance
Dihybrid cross when we follow the inheritance of two pairs of genes together
- When Mendel bred RRYY with rryy, he produced 100% RrYr
- RrYr x RrYr produced RY, Ry, rY and ry gametes in a 9:3:3:1 ratio of dominant:hetero:hetero:recessive
 15. Predict the difference in inheritance patterns if two genes are linked
One of Mendel’s conclusions was that different characteristics are inherited independently of each other:
law of independent assortment. Boveri and Sutton later explained by this observation that chromosomes
appear to separate independently at the first division of meiosis
Bateson and Punnett:
- Crossed LLPP snapdragons (long pollen grains, purple flowers) with llpp (round pollen grains, red
flowers) and the F1 snapdragons were all long and purple
- F1 generation were self-fertilised
- If the genes weren’t linked, the normal 9:3:3:1 ratio would be shown
- If the genes were linked, the ratio would be 3 long purple : 1 round red
- The actual results were close to the expectations for linked genes, however also contained some
round purple and long red plants
- This is due to recombination
Homologous chromosomes join together in X-shaped regions called chiasmata. Morgan suggested that
crossing over of genes could be explained by chromosomes swapping pieces of themselves at chiasmata

16. Process information from secondary sources to analyse the outcome of dihybrid crosses when
both traits are inherited independently and when they are linked
17. Perform a first-hand investigation to model linkage

18. Explain how cross-breeding experiments can identify the relative position of linked genes
19. Discuss the role of chromosome mapping in identifying relationships between species
- There are 23 chromosomes in the human body but many different genes ∴ multiple genes can be on
the same chromosome  linked genes
- During meiosis, the chromosomes cross over to produce recombinant genes and the genes can be
mapped to determine the relative position of those genes on the chromosome
1913: Sturtevant thought that recombination rates should give an important clue to the position of genes
 - Genes which are far apart on a chromosome are more likely to recombine than ones closer together
- The amount of crossing over between linked genes is a direct measure of the distance between the
genes on the chromosome
- Genes that are further apart on the same chromosome have higher crossover frequencies as they
have more potential crossing over points between them
- A crossover value of 1% corresponds to one unit of map distance: a centimorgan cM

Parents with genotype AaBb and aabb can only produce offspring with 2 possible genotypes without
crossing over: AaBb and aabb. These are called the parental phenotypes. After crossing over, there are 2
additional possible gene combinations: Aabb and aaBb. These are called the recombinants, and are
produce non-parental phenotypes to allow new allele combinations to come together.
Calculating the crossover value between the genes provides an indication of the distance between the
linked genes. Crossover value = # recombinant / total # offspring x 100 %
- Genetic maps compare a wide range of phenotypic characteristics between species
- Computer programs can be used to find the degree of similarity between species
- More closely related species = more similar gene maps

20. The Human Genome Project is attempting to identify the

position of genes on chromosomes through whole genome
sequencing
1986: it was thought that sequencing the genome would make it possible to understand how cancers form
and thus pave the way to develop more effective cancer treatments
1988: James Watson was appointed to head the project
1990: project started
1991: James Watson resigned due to money troubles
1992: Human Genome Organisation took over
1998: Celera Genomics competed to complete it first
2001: first draft was published, consisting of a sequence of over 3 billion DNA letters in each of our 100
trillion cells
2002: mouse genome was mapped

21. Discuss the benefits of the Human Genome Project

DNA forensics
- Pedigree-ing of animals - Exoneration of those accused wrongly
- Microbes responsible for pollution of air, water, soil and food identified
- Paternity testing and maternity testing - Victim identification
Molecular medicine
- Diagnosis of disease - Early detection of disease
- Gene therapy  gene control - Pharmacogenomics ‘custom drugs’
- Revolutionise health care - Matching organ donors and recipients
- Less emphasis on treating disease, more emphasis on establishing risk and preventing disease
 - Genome map used to study 4000 hereditary diseases and uncontrolled cell division
Risk assessment
- Inherited mutations’ lives reduces
- Exposure to radiation  damage to health and cancer causing poisons by mutating chemicals
Agriculture, livestock breeding
- More nutritious and healthy produce - Healthier and productive farm animals
- Production of crops resistant to disease, drought and insects
Evolution
- Germ line studies of mutations
Microbe genomics
- Biofuels, new sources of energy - Safe and efficient clean-up of toxic wastes
- Environmental pollutants, detected and monitored
- Protection from biological and chemical warfare

22. Describe and explain the limitations of data obtained from the Human Genome Project
- The determination of the entire DNA sequence contained in the human genome will NOT enable
geneticists to look at a person’s DNA sequence and predict everything about their appearance,
behaviour and other characteristics
- Interaction of genes is still unknown
- Genetic makeup affects health, growth and development but environment also takes a major role
- Physical environment: diet, climate, education, housing, access to health care/services
- ‘DNA makes RNA makes proteins’ – very simplistic and doesn’t account for the cells many
components working together to produce life
- Genes contain non-coding parts (introns) and coding parts (exons) which determine the gene
expression  a single gene can code for different proteins depending on which parts are cut out or
not. The genetic coding is interconnected with coding of other genes
- The DNA in chromosomes is folded up and rearranging the fragments of sequenced nucleotides is
difficult. The human genome also may contain errors and gaps in information
- The function of all proteins is not currently known just because of the knowledge of their sequence

23. Outline the procedure to produce recombinant DNA

Producing recombinant DNA involves gene shuffling: specific segment of DNA is isolated and removed from
organism and attached to another piece of DNA from a different organism. This produces new
characteristics in the host organism OR enables the host organism to produce specific substances that are
useful to scientists.
- Cutting and joining the DNA (aka splicing)
o Uses restricting enzymes (to break/cut up the DNA) and ligases (to attach/glue the gene
fragment onto the DNA molecule from other organisms) to produce recombinant NA
- Monitoring the cutting and joining
o This is a highly specific process as it ensures that the DNA fragments are exactly what the
scientist requires
o The required gene segments are isolated from the unwanted DNA fragments through
electrophoresis
o They are placed into the gel of an electrophoresis machine and separated according to size
- Amplifying or modifying the DNA sequences using the polymerase chain reaction
o Aka molecular photocopying
o 2 single strands  primers anneal to the strands 2 double strands  process repeated
o Starts with 2 strands and after 1 cycle  4 strands. After 2nd cycle  8 strands
- Transforming hosts, such as bacteria, with the recombinant DNA or the use of DNA vectors and
microinjection to allow genes to be carried into nuclear DNA in multicellular organisms
 24. Explain how the use of recombinant DNA technology can identify the position of a gene on a
chromosome
After using restriction enzymes to cut the DNA into segments, the fragments are sorted and analysed using
electrophoresis. The segments are placed in the machine on top of a gel and then an electrical charge is
run through them, which causes the movement of the DNA through the gel (as DNA has a negative charge)
The smaller DNA fragments move through the gel faster than larger molecules and this establishes the DNA
sequence (order of nucleotides)
Fluorescent in situ Hybridisation (FISH)
- The dividing cells are placed on a microscope slide – whole chromosomes are visible under the
microscope during division
- Using heat, the DNA strands are denatured – the strands separate into single strands
- Fluorescent probes are synthetic strands of DNA that are produced to be complementary to known
genes. Once a probe is prepared, the researcher can use recombinant DNA technology to clone many
copies of it and then tag them with a fluorescent dye so that the location of the gene is known
- The probes are added to the slide of the denatured DNA strands
- Since the strands are single stranded, and the probes are single strands, the probes will attach to the
DNA where the bases are complementary – the probes and complementary DNA strands
hybridise/bond by forming base pairs
- If a fluorescent light is turned on, the tag glows brightly and so its position can easily be identified
This can be used to determine the chromosome on which a particular gene is located. This is particularly in
genetic screening to identify defective genes and chromosomal abnormalities.

25. Process information from secondary sources to assess the reasons why the Human Genome
Project could not be achieved by studying linkage maps
Linkage maps:
- Only show the order of genes on a chromosomes and their relative distance apart
- Shows percentage chances of linked genes staying together or separating in crossing over
- The Human Genome Project aimed to find the exact positions of genes on a chromosome (not
relative) and hence linkage maps weren’t sufficient
- Give information based on parts of the genome that get expressed (just the exons that make our
features)
- The introns (non-coding DNA) don’t get identified by linkage maps
- Don’t identify the nucleotide base sequence
- Are used for mapping characteristics e.g. inherited diseases
- Drosophila have been studied and linkage maps produced gained from breeding experiments BUT
humans are unsuitable to be used to study the same way due to ethical and impractical reasons
 26. Gene therapy is possible once the genes responsible for
harmful conditions are identified
27. Describe current use of gene therapy for an identified disease
28. Process and analyse information from secondary sources to identify a current use of gene therapy
to manage a genetic disease, a named form of cancer or AIDS
29. Process and analyse information from secondary sources to describe the effect of one named and
described genetic mutation on human health
Somatic gene therapy: inserting functional genes into the appropriate cells of a person with a disease; this
change is not passed on to the next generation
Germ line therapy: changing a gene in a gamete or germ line cell, and so the change is passed on

Name of disease Cystic Fibrosis

Cause - Heredity disease where a gene mutates and produces a defective protein
- Problem with the CF gene located on chromosome 7
- Deletion of the 508th triplet, resulting in the loss of a single amino acid
- This amino acid is the cystic fibrosis transmembrane conductance regulator (CFTR)
- CFTR: protein with a function in regulating the transport of chloride
- Faulty gene  faulty CFTR
- Normal CFTR: correctly controls chloride ion balance in the cell by
transporting/removing it from inside the cell through the membrane to the outside
- Abnormal CFTR: unable to control chloride ion balance in the cell which causes
chloride ions to build up inside the cell, which causes water to move into the cell to
attempt to alleviate this imbalance
Symptoms/effects - Abnormal movement of salt in and out of the body because it dehydrates the
mucus membranes that surround organs and exocrine glands
- Defective chloride transport  net increase in water absorption by the cell
- Mucus-secreting glands (i.e. lungs and pancreas) become fibrous and produce
abnormally thick mucus
- 99% of patients with CF develop chronic lung disease and respiratory failure
Treatment/use of 1) In vivo method: uses a modified cold virus (or adenovirus) to transport the healthy
gene therapy gene into the lungs. These were delivered via drops, sprays of dripped down a
flexible tube to the lungs
2) Trials have also occurred with adeno-associated virus’ and with liposomes
3) If scientists can identify the stem cells which produce the cells lining the
respiratory tract, they may be able to cure the disease permanently
4) Another method is using hybrid virus formed form the HIV virus covered in
proteins from the Ebola virus
Use of gene All trials achieved some success, but not enough to make a significant change to the
therapy (including patient. One major problem is that the CF gene is too large to easily for into a vector.
results) and Researches have been able to split the gene into two parts, insert them in separate
effectiveness AAV vectors, deliver them via and aerosol and recombine them in the patient’s cells.
Another problem is that the cells lining the respiratory tract die and are replaced every
few months. HIV/Ebola hybrid has been highly effective in trials with mice and
monkeys, but doctors have not found a way of using this method without risking lethal
infection in patients
 30. Mechanisms of genetic change
31. Distinguish between mutations of chromosomes, including:

 Rearrangements
Mutations which involve the rearrangement of the base sequence of DNA which include inversions,
duplications, amplification and translocations.
Inversions: a section of the chromosome breaks off, slips and reattaches to the same chromosome but
backwards
Duplications: a section of the chromosome is copied and added, resulting in an excess of protein
production
Amplification: a mutation in which many additional copies of a particular base sequence occur on the same
chromosome
Translocations: mutations in which a base sequence from one chromosome joins onto another one
Deletion: when part of a chromosome is lost or destroyed
 Changes in chromosome number, including trisomy and polyploidy
Changes in chromosome number: produces mutant gametes, some with fewer chromosomes and some
with extra chromosomes
Trisomy: e.g. Downs syndrome = Trisomy 21 where the nucleus of the cells have 3 chromosomes instead of
1 chromosome pair (2N+1). Occurs when meiosis fails to separate the pair of chromosome number 21s in
the eggs that are forming in the woman’s ovaries. Results in growth failure and mental retardation
Polyploidy: when chromosomes fail to separate during meiosis, resulting in an organism inheriting multiple
sets of chromosomes.
 Base substitution
Substitution: when one base of the DNA sequence is substituted for another. Only one codon is altered,
only one amino acid is altered
e.g. sickle cell anaemia: one thymine base is replaced with an adenine base
 Frameshift
These result from the insertion or deletion of a base, resulting in the production of a completely different
amino acid sequence from the point of the mutation onwards

32. Outline the ability of DNA to repair itself

- DNA has the ability to repair itself
- Gene mutations are very common but there are 130 genes which are responsible for repairing
damaged DNA
- DNA undergoes the most damage during the S (synthesis) stage of the cell cycle
o The p53 gene or tumour suppressor gene produces proteins that can stop the cell cycle
during the first growth stage to allow for the repair of damaged DNA
 o Mutated (by some viruses, nicotine, certain fungal toxins) p53 gene  uncontrolled division
of damaged DNA  tumours
- DNA glycosylases: identifies the damaged section of DNA and removes the damaged bases and their
phosphate group
- DNA polymerase: inserts the new nucleotide into the sequence
- Ligase: repairs the break in the backbone and joins the base pairs together
DNA REPAIR GENES:
- Direct chemical reversal of the damaged gene: when a cytosine base has been chemically altered by
the addition of a methyl group to thymine. Glycosylase is produced by the DNA repair genes to
counter this
- Base excision repair: DNA repair genes produce DNA glycosylase to remove damaged bases. DNA
polymerase inserts correct bases into the DNA and DNA ligase joins the break in the strand
- Nucleotide excision repair: same as above, but instead of a single base, the DNA repair genes remove
a group of nucelotides around the damaged area. Involves the use of transcription factor enzymes,
polymerase and ligases. Uses about 5-18 enzymes to cut out the sequence and 12 to repair
- Mismatch excision repair: corrects mistakes in normal base pairing through glycosylase, polymerase,
ligase and cutting enzymes (MLH1). Initial mistakes are recognised by proteins that are produced by
the MSH2 gene. Damage to MLH1 and MSH2  colon cancer

33. Describe the way in which transposable genetic elements operate and discuss their impact on the
genome
Transposable elements / transposons / ‘jumping genes’
- Genes that move around on chromosomes to produce different outcomes
- 1944 Barbara McClintock – studied corn and their genetics relating to the colour of the kernels
- After breeding for a while, she realised that the corn kernel colours were similar but every now and
then would be a different colour type (different coloured kernels  red striped kernels)
- Can transfer a gene or groups of genes to a structurally unrelated part of the DNA
- Creates new nucleotide sequences and chromosomal rearrangement
- Can transfer DNA from one cell to another (possibly related to viruses)
- Causes mutations (i.e. kernel colours in corn)

34. Distinguish between germ line and somatic mutations in terms of their effect on species
Germ line mutation: affects the sperm or ova
- Passed onto offspring
- Aka mutants
- Effect: produces a source of variation
- If the change is advantageous to the species, then it becomes the predominant characteristic or trait
through the process of natural selection
- LARGE EFFECT ON SPECIES
Somatic mutation: affects a somatic cell
- Are not usually passed onto offspring
- If the somatic mutation occurs in a cell during the first few cell divisions after fertilisation, it can lead
to a mosaic – an organism with some mutated cells and some normal cells (i.e. potentially leads to
Downs Syndrome)
- If mutation occurs sometime after birth  cancer
- E.g. skin cancer as a result of prolonged exposure to ultraviolet radiation
- SMALLER EFFECT ON SPECIES
 35. Selective breeding is different to gene cloning but both
processes may change the genetic nature of species
36. Explain, using an appropriate example from agriculture, why selective breeding has been practised
37. Analyse and present information from secondary sources to trace the history of the selective
breeding of one species for agricultural purposes and use available evidence to describe the series
of changes that have occurred in the species as a result of this selective breeding
Selective breeding: (aka artificial selection) improves quality and yield of farm animals and food crops using
cross-breeding techniques to produce breeds that were stronger and healthier. Benefits include:
- Production of crops with high yields and increased nutritional value
- Resistance to disease
- Tolerance to drought or cold
- Improved productivity by developing faster growing and larger animals

Wheat Cows Chicken

History 1788: wheat farming in 1788: Cape cattle 19th century: Europe
AU but too hot, not 1795: Zebus had better milk and American selective
enough rain, fungus stem quality bred to create pure
rust Shorthorns and Herefords took breeds (largely selected
1898: William Farrer – over on appearance)
noticed rust resistance Pure Devon bull + Shorthorn
1902 produced 1813 pedigree: Shorthorns
Federation wheat Increased demand for beef
1973 stem rust fungus
epidemic  National
Wheat Rust Control
Programme
Characteristics / - Indian wheat for early - Aberdeen Angus for meat - Characteristics that
Why use certain ripening - Friesian for lots of milk increase productivity
breed - Canadian wheat for - Jersey for creamy milk rather than
high baking qualities - Belgian Blue for larger appearance
- ^ + ^ = Yandilla muscles - Consistently laying
- Purple Straw for high - Bos taurus – high fertility, many eggs
yield + Yandilla = optimum fat cover, well- - Rapid growth, quality
Federation muscled carcass and quantity of flesh
- Gabo for larger farming - Bos indicus – rich/fatty milk, - High rate of
area high heat tolerance and food:flesh
- Gamenya resistance to ticks due to - Sussex for eating
short/gloss/light coloured - Leghorn for eggs
coat, ability to sweat, loose - Sebright for
skin gives bigger SA and can exhibition
shake insects off.
Changes in Federation: early Friesian cow (lots of milk) X Selective breeding is
species ripening to suit shorter Jersey cow (creamy milk) = lots carried out to enhance
growing season, of creamy milk characteristics that are
improved baking quality, desirable to humans
improved yield, e.g. height, weight,
resistance to fungal flavour and colour
diseases
Characteristics - Tolerant to rust Can survive in Australian Australian breeds are
suitable in AU infections environmental conditions e.g. selectively bred to
- Grows in poor soil and extreme heat, dehydration etc. produce varieties that
low rainfall areas can survive Australian
- Early ripening season environmental
Possible future Exportation of wheat - Belgian Blue produces large conditions
developments offspring  mother cows
cannot naturally give birth
- Friesian/Jersey  large
udders make it impossible to
walk  increased incidence
of lameness and mastitis
Effect on Increases genetic diversity initially, however the incidence of traits that humans deem
genetic diversity ‘undesirable’ will decrease  long term reduction in genetic diversity
of species

38. Describe what is meant by ‘gene cloning’ and give examples of the uses of gene cloning
39. Distinguish between gene cloning and whole organism cloning in terms of the processes and
products
Gene Cloning
Aim To produce genetically
identical copies of a gene
Processes Recombinant DNA
techniques
- A piece of DNA is cut
(spliced) using a
restriction enzyme to
produce only the wanted
gene
- A plasmid (circular strand
of DNA) is also cut using
the same restriction
enzyme
- This produces sticky ends - Fertilised egg now zapped
at the location of the cut
- The gene and plasmid are
pasted together and
stabilised by DNA ligase
- The plasmid with the new
gene are transfer to a
bacterial cell to reproduce
Products A single gene and the
products of that gene
# cloned at a Huge numbers – billions or
time trillions
Examples Manipulated E. coli
bacterium produces human
insulin which can be used to
treat diabetes
Whole Organism Animal Whole Organism Plant
To produce genetically identical To produce genetically
copies of an organism identical copies of a plant
Somatic cell nuclear transfer Plant clippings are taken
- Somatic cells taken from and replanted and grown
glands and starved from
nutrients to avoid cell division
- Enucleation: nucleus removed
from an unfertilised egg
- Nucleus from first sheep
injected into the empty egg
cell and zapped with
electricity to fuse them
together
again with electricity for cell
development (mitosis)
- Egg implanted into the uterus
of a surrogate sheep and
allowed to grow
- Normal birth and
development of genetically
identical sheep
A whole organism with the A whole organism with
same genome (including trillions the same genome – exact
of cells) same plant
Small numbers – often just one As many as desired
Dolly the sheep Frangipani
 40. Discuss a use of cloning in animals or plants that has possible benefits to humans
- Tissue culture techniques + recombination DNA techniques used in plants
Bt cotton plants
- Contain a gene for a protein that kills the caterpillar Helicoverpa – destroys lots of cotton
- Bt: gene from Bacillus thuringiensis bacterium
- Bt cotton contains an inactive form of the Bt gene  no harm to anything EXCEPT
- When eaten by caterpillars, the gene is converted to the active form in the digestive system, killing
the insect
- Works because: bacterial genes use regulatory sequences which do not work in plants, so the
combination of the bacterial gene and a sequence of a plant gene makes an artificial gene. The
vector Agrobacterium tumefaciens inserts this gene into the cotton cells where it grows
Growing varieties of cotton
- Seedlings are cut into small pieces and placed on a solid growth medium where they grow into
calluses
- After 6 weeks, they are transferred to a liquid medium
- Hormones are added to make them grow into embryos
- The embryos are dipped in a solution of Agrobacterium containing Bt genes and the bacteria injects
the genes into the cotton cells
- The embryos are placed on a solid medium and germinated into small plants and grown
- Scientists use 4 different insecticidal genes to inject into cotton  controversy, critics say that
they’re doing more harm than good

41. Identify data sources, choose equipment or resources, gather, process and analyse information
from secondary sources to describe the processes used in the cloning of an animal and analyse the
methodology to identify ways in which scientists could verify ways in which scientists could verify
that the animal produced was a clone
- The methodology for cloning animals was tested, proven and patented in 1996
- It took 267 tries before the success of Dolly
- Cloning can be observed as asexual reproduction, as the resulting offspring are genetically identical
How to tell?
- DNA fingerprinting

42. The timing of gene expression is important in the

developmental processes
43. Identify the role of genes in embryonic development
- Every aspect of the development of an organism from the
moment of fertilisation is directed by its genes e.g. not only
every characteristic of your body but also what you’re going to
be (human)
- Totipotent cell = zygote contains all the genetic information
that we need  divides to form a ball of cells  each cell takes
on a different role to form the placenta, umbilical cords and the
embryo
- Cells become different because different genes are expressed
from the same DNA and genome
- Some genes are specific for coding enzymes required for cell
respiration and others for growth
- Different genes produced different enzymes and caused your
cells to become specialised
 - Differential or selective gene expression: in any given cell at any one time, only a few of the genes
are actually being expressed
Two major sources of information used to ‘tell’ a cell which genes express during embryonic development:
1) The information in the egg cytoplasm, which contains both RNA and protein molecules encoded by
the mother’s DNA
o When the initial zygote has split into 128 cells (5 days old), the blastula is dependent on the
mRNA and proteins that have been transcribed from the DNA of the mother
o Therefore, genes and proteins in the cytoplasm of the egg from the mother influence the
development of the embryo – this is called cytoplasmic determinants
2) The information in the environment around the cell
o Induction: when the first cells divide and send signals to each other, and determine which
genes are expressed
- Cytoplasmic determinants and induction signals provide the relative position of the head and tail,
right and left, and back and front of the embryo

44. Summarise the role of gene cascades determining limb formation in birds and mammals
In the 1980s, biologists discovered that the genes controlling development in multicellular animals operate
by means of gene cascades  genes are turned on and off in a particular order and only in the correct
cells. A protein produced by one gene acts as a transcription factor to turn on the next gene
Limb formation:
1) Maternal genes cause the embryo to develop anterior (front) and posterior ends
2) Other genes cause the embryo to form into a series of segments, proceeding in order from the
anterior end to the posterior end
3) These genes turn on the homeotic genes, a series of genes which direct the development of the
segments, again starting from the front and working back
4) Each homeotic gene begins a cascade within its segment. In the regions destined to become limbs,
they switch on genes which cause limb buds to grow, and then genes in the cells within each bud
cause it to form the correct parts. The cascade works outwards, from the base of the limb to the
extremities
Tbx4 and Tbx5 genes are critically important in the cascade which causes the development of limbs in
chickens. If Tbx4 is turned ON in the cells of a limb bud, it will grow into a leg; many other genes will be
turned on and off at the genes which have similar structure appropriate time to develop leg bones,
muscles, nerves, blood vessels, scales and toes with claws. If the Tbx5 is turned on instead, the bud will
form into a wing, and other genes will cause the formation of long wing bones and features

45. Discuss the evidence available from current research about the evolution of genes and their
actions
- Results of the Human Genome Project and increasing numbers of animal sequencing projects
- The presence of homeotic genes in most or all groups of multicellular animals implies that these
genes evolved in a common ancestor these groups
- Recent studies have shown significant differences between homeotic genes in insects and
crustaceans
- Insects have a gene which represses the development of limbs, indicating that insects may have
evolved from organisms with many legs and that changes in this genes are responsible for reducing
the number to six
- The gene at the top of the cascade that produces eyes in mice is so similar to the equivalent gene in
insects that the genes can be interchanged and still function correctly
- Further studies of homeotic genes and other common genes can be expected to yield more
evidence for the evolutionary development of organisms
 46. Describe the evidence which indicates the presence of ancestral vertebrate gene homologues in
lower animal classes
Homeotic genes were discovered in Drosophila fruit flies
- These genes all contain a similar region of 180 base pairs called the homeobox
- Probes of the homeobox were made and used to look for similar genes in other organisms
- They were found in mice and other mammals  they were named the Hox genes
- Genes which have similar structures and functions in different organisms are said to be homologous
genes or homologues because they are evidence of evolutionary development

47. Identify data sources, gather, process and analyse information from secondary sources and use
available evidence to assess the evidence that analysis of genes provides for evolutionary
relationships
Study of aquatic bird genes reveals surprisingly relationships and evolutionary history
- 2001: analysis of the genes of aquatic birds which showed that the evolutionary relationships
between them were vastly different those we had previously thought (based on the birds’ body
structure)
- The closest living relative of the elegant flamingo (long-legged) is the squat grebe (short legs)  no
outward resemblance but very similar genes
- Blair Hedges conducted 2 studies performing genetic analyses using DNA samples
- Physical features such as long legs and webbed feet did not appear just once during the history of
bird evolution, as had been the hallmark assumption of the traditional classification system
- Instead, structures evolved repeatedly in the history of different aquatic bird species
DNA-DNA hybridisation
- DNA is split into 2 strands by heating, which can be combined from 2 different species and cooled
until the bonds re-form at the points where the sequences are chemically compatible, creating
hybrid DNA molecules built from the genetic material of the two different species
- By heating it again, the temperature at which the strands separate indicates a relationship
- Each degree lower in temperature corresponds to a certain percentage difference in the DNA
sequence between the two species