TISSUE, CELL, MOLECULAR STUDIES

STRUCTURE OF NUCLEUS

 Nuclear membrane
 Nucleoplasm
 Nucleolus
 Chromatin network

FUNCTIONS OF NUCLEUS

 Control cell divisions

 Carry hereditary characteristics
 Control structure and functioning of a cell

NUCLEIC ACIDS

 DNA- Deoxyribose nucleic acids

 RNA-Ribonucleic Acid

STRUCTURE OF NUCLEIC ACIDS

 Nucleic acids are made up of small unit monomer called nucleotides

 A single nucleotide consists of : Phosphate group, Sugar, Nitrogenous base

 In DNA there are four nitrogenous bases: Adenine that pairs with thymine; Guanine that pairs
with Cytosine
 In RNA Thymine is replaced by Uracil

DNA MOLECULE

a) Location
 Nuclear DNA, Mitochondrial DNA, Chloroplastic DNA
b) Structure of DNA
 Made up of nucleotides
  Nucleotides made of:- Sugar: Phosphate Portion (deoxyribose): Nitrogenous base-( T, A, G,
C)
- Purine- Adenine and Guanine
- Pyrimidines- Cytosine and Thymine
 Sugar attaches to phosphate to form skeleton
 Cytosine pairs off with guanine
 Adenine pairs off with thymine
 Complementary base pairs- ( equal numbers of A=T, C=G)

GENE AND NON-CODING DNA

 Small section of DNA carry the genetic code for the formation of a particular trait
 Carry code for a particular protein
 Small portion of DNA are called gene
 Most section of DNA do not carry any codes at all- such portions of DNA are called non-coding
DNA

HISTORY OF DNA

 Theoretical model was put forward by Watson and Crick

 Watson and crick discovered DNA nitrogenous bases and that it is double helix
 Franklin and Wilkins provided the X-ray photograph of DNA

FUNCTIONS OF DNA

 Carrying hereditary characteristics from parents to their offspring

 Controls the synthesis (manufacturing) of proteins
 Acts as template for formation of mRNA

DNA REPLICATION

 Duplication of DNA to form an exact copy of itself

 It takes place during interphase of cell division

PROCESS OF DNA REPLICATION

 DNA double helix molecule unwinds

  Weak hydrogen bond breaks
 DNA strand unzip and separate
 Each strand serves as a template to form a new strand
 Each strand pick up free nucleotides from the nucleoplasm to form complementary strands
 Two genetically identical DNA molecule are formed
 This process is controlled by an enzyme.

DNA PROFILING

 DNA profile is the unique pattern formed by the DNA fragments of an individual.

 DNA profile is sometimes referred to as DNA fingerprint but is not the same as fingerprints
which appear on a person‟s hands
 The DNA profile of people are not the same except for identical twins
 DNA profile can be made using DNA from: Body tissue, Hair, Body fluids such as blood, semen
or saliva

USES OF DNA PROFILE

 Determine genetic disorders

 Paternity tests
 Determine identity of dead persons
 To investigate crimes
 To establish matching tissues for organ transplant
 Determine the probability or cause of genetic disorders

HOW DNA PROFILING IS USED TO DETERMINE PATERNITY

 A child receive DNA from both parents

 The DNA profile of the mother, child and the possible father are determined
 A comparison of the DNA bands of the mother and the child is made
  The remaining DNA bands are compared to the possible father‟s DNA band‟s
 If all the remaining DNA bands in the child profile match the possible father‟s DNA bands
 Then the possible father is the biological father
 If all the remaining DNA bands in the child profile does not match the possible fathers DNA
Bands
 Then the possible father is not the biological father.

WHY DNA PROFILING MAY NOT BE RELIABLE

 Small segment of DNA is analyzed

 Human error during DNA profiling process
 Suspect was framed by leaving DNA evidence at the scene/swopping specimens at the lab
 The DNA evidence of the accused was at the scene before the crime was committed
 Suspect had an identical twin who has the same DNA profile

RIBONUCLEIC ACID (RNA)

TYPES OF RNA

 Ribosomal RNA (rRNA) – forms part of the structure of the ribosome

 Messenger RNA (mRNA) – picks up amino acids in the cytoplasm and carries them to the
ribosome during protein synthesis
 Transfer RNA (tRNA) – acts a messenger by carrying the genetic code from DNA in the
nucleus to the ribosome in the cytoplasm to be used to synthesize proteins
LOCATION OF RNA

 Ribosomal RNA (rRNA) found in the ribosome

 Messenger RNA (mRNA) found in the nucleus but move out and attaches to the ribosome.
 Transfer RNA (tRNA) found in the cytoplasm

FUNCTION OF RNA

 Play important roles in protein synthesis

STRUCTURE OF RNA

 Single stranded structure

 Not coiled
 Ribose sugar
 Thymine replaced by Uracil
 Chains are shorter
 Composed of nitrogenous bases (A,G,C and U),phosphate portion attaches to ribose sugar
 Nitrogenous bases are found in bases triplets
 In mRNA is called a codon and tRNA is called an anticodon
 tRNA is clover like structure and it has a place for attachment of amino acids
SIMILARITIES BETWEEN DNA AND RNA

 Both contain sugar alternating with phosphate

 Both contain nitrogenous bases: Adenine, Guanine and Cytosine
 Both play a role in protein synthesis

DIFFERENCE BETWEEN DNA AND RNA monomer or nucleotides

DNA RNA
Contains deoxyribose sugar Contains ribose sugar
Contains the nitrogenous base Contains the nitrogenous base
thymine uracil

PROTEIN SYNTHESIS

 Amino acids are the basic building block or monomer that makes protein.
 When amino acids combine, water is released the process is called dehydration
 When two amino acids combine dipeptide is formed
 When more amino acids combine-polypeptide
 Proteins are long chain of polypeptide.
 They are joined together by a peptide bond
 The sequence in which amino acids are going to combine is determined by the sequence of the
nitrogenous bases in DNA.
 The sequence in which the amino acids are attached to each other determine which protein is
going to be formed,
 Sequence of bases in DNA determines which protein is going to be formed.
THE PROCESS OF PROTEIN SYNTHESIS

THREE STAGES

1) TRANSCRIPTION- formation of mRNA.

 DNA double helix unwind
 Weak hydrogen bonds breaks
 Forming two sing strand
 One strand acts as the template to form a complementary strand of mRNA.
 Using free RNA nucleotides from the nucleoplasm
 This process is called transcription
 Three adjacent base on mRNA make-up a codon which codes for an amino acid
2) MOVEMENT OF mRNA out of the nucleolus
 mRNA moves out of the nucleus.
 Through the nuclear pore.
 Into the cytoplasm.
 Where it attaches to the ribosome.
 Exposing its codons
3) TRANSLATION-using information from mRNA to form a protein
 According to the codons of mRNA.
 tRNA molecule with matching anticodons brings the required amino acid to the ribosome
 The amino acid link together by a peptide bond to form required protein.
 This process is controlled by enzymes
DIFFERENCES BETWEEN DNA REPLICATION AND PROTEIN SYNTHESIS

DNA replication each strand acts as the template, protein synthesis one strand acts as a template

DNA replication complementary DNA strand is formed; protein synthesis mRNA strand is formed

DNA replication DNA nucleotides is used, RNA nucleotides is used

EFFECT OF MUTATION ON THE STRUCTURE OF A PROTEIN

 If the sequence of nitrogen bases on DNA changes, therefore the codons on the mRNA will be
different and will code for a different amino acid.
 A different amino acid will be brought in by tRNA
 This will lead to a change in the sequence of amino acids in the polypeptide chain
 resulting in the formation of a different protein
1. CELL DIVISION- MEIOSIS

STRUCTURE OF CHROMOSOMES

 During cell division chromatin network unwind to form separate structure called chromosome
 Each chromosome is made up of a long strand of DNA which is tightly wrapped by an outer
protein covering.
 A short segment of nucleotides which carry the genetic code for the development of a particular
trait is called gene.

CHROMOSOME IN SOMATIC CELL AND SEX CELL

 All organisms have a specific number of chromosomes called the chromosome number,
represented by (n).
 Humans have 23 paired chromosomes (one set from the maternal line and one set from the
paternal line); therefore the total number of chromosomes In a normal somatic cell is 46. The
cell with 46 chromosomes is said to be diploid.
 In a human somatic cell: 2n = 46, therefore n = 23, which is haploid.
 A haploid chromosome number is found in gametes.
 There are two types of chromosomes in humans: 22 pairs of autosomes and 1 pair of
gonosomes.
 Autosomes are found in pair and identical to each other.
 In female, two sex chromosome are identical, referred to XX chromosome
 In male, one of these is X- chromosome (large) and Y- chromosome (smaller)
 In human we say somatic cell has 44+XX chromosome in Female, and 44+XY chromosome in
male.
 These paired chromosomes are homologous chromosomes – they are the same length, size
and shape and carry genes that code for the same characteristic, e.g. seed colour.

MEIOSIS

 Meiosis is a type of cell division that is needed to ensure that the gametes that are formed have
the right number of chromosomes.
 Division of sex cell into four cell
 Each cell has half the chromosome number as the parent cell
 Each cell is genetically different from each other
 Occurs during gametogenesis- formation of gametes
 Gametogenesis in plant occurs in anther (pollen grain) and ovary (ovule)
 In human gametogenesis occur in the testes – sperm and ovary

IMPORTANCE IN MAINTAINING THE CHROMOSOME NUMBER

 Chromosome number should be maintained from one generation to the next

 Meiosis halve the number 2n-n= halving effect
 n+n = doubling effect
 halving effect and doubling effect always maintain constant number of chromosome
MEIOSIS AND LIFE CYCLE

a) Meiosis during gametes formation

 Take place before fertilization in most plants and animal
 Gametes have half the chromosome number (n)
 Fusion results in Diploid.
b) Meiosis after fertilization
 Algae, Fungi- adults are haploid
 Meiosis occurs in the zygote after fertilization

PROCESS OF MEIOSIS

MEIOSIS 1

a) PROPHASE I
 Chromatin network unwinds to form chromosome
 Each chromosome is made up of two identical chromatids
 Chromosome come together in a homologous pair- one of maternal and one paternal origin

N.B Crossing over takes place between chromatids- results in exchange of genetic
materials

b) METAPHASE I
 Homologous chromosome/pair arrange along the equator-randomly
 Chromosome lie in a double layer on either side of the equator
 Spindle fibres attach to centromere
c) ANAPHASE I
 Spindle fibres contract and pull chromosome to poles
 Homologous pairs separate
 Cytokinesis begins
d) TELOPHASE I
 Chromosomes group at poles
 Spindle disappears
 Nuclear membrane reforms and nucleolus form in each nucleus
 Cytokinesis is complete and two daughter cells are formed
 Each chromatid is double stranded in new cell
MEIOSIS II (SIMILAR TO MITOSIS)

PROPHASE II

 No homologous pairing
 Each chromosome is visible as two chromatids
 Nucleolus and nuclear membrane disappear
 No crossing over

METAPHASE II

 Chromosomes move to the equator and align in a single row on the equator
 Spindle fibres attach to the centromeres

ANAPHASE II

 Centromere of each chromosome splits

 Two chromatids separate and move to opposite poles
 Chromatids at each pole are known as daughter chromosomes
 Cytokinesis begins

TELOPHASE II

 Daughter chromosomes groups at poles

 Cytoplasm divides to from four new haploid daughter cells
 Genetically different
PROCESS OF CROSSING OVER

 Takes place in Prophase I of meiosis

 Homologous chromosome lies close to each other
 Four chromatids are involved in crossing over (bivalent)
 Chromatids overlap with chromatids of its homologue
 The point of crossing over are called chiasmata/ chiasma
 Results in exchange of genetic materials
 Introduce genetic variation of offspring

DIFFERENCE BETWEEN MEIOSIS I AND II

MEIOSIS I
Crossing over takes place
Metaphase I-chromosome arranged in
homologous pair along the equator
Anaphase I- whole chromosome are
pulled to opposite poles
Chromosome number is halved
Results in two cells
Chromosome double stranded
MEIOSIS II
No crossing over
Chromosome arrange along the equator
singly
Chromatids are pulled to opposite poles
Chromosome number does not change
Results in four cells
Chromosome single stranded

DIFFERENCE BETWEEN MITOSIS AND MEIOSIS

MITOSIS MEIOSIS
Occur to form somatic cell Occur to form sex cell/gametes
One nuclear division Two nuclear division
Two cells are formed Four cells are formed
Same number of chromosome Half the number of chromosome
Two cells genetically identical Four cells genetically different
No crossing over Crossing over occur
WHY THE CELLS PRODUCED BY MEIOSIS ARE DIFFERENT?

Gametes are always different from each other due to:

 Crossing over during prophase I that results in exchange of genetic materials

 Random arrangement of homologous chromosome along the equator during metaphase I.
 No definite pattern in the way chromosome move to opposite poles
 Sperm cells produced by male parent are different and egg cell produced female parent are
different, offspring produced by the same parents will also be different.

IMPORTANCE OF MEIOSIS

 Chromosome number is halved from diploid to haploid.

 Prevents the doubling of chromosomes with each generation.
 Crossing over introduces genetic variation.

ABNORMAL MEIOSIS

 Changes in the chromosome number or structure.

 Chromosome mutations cause a change in the karyotype of a cell

Non-Disjunction of chromosome

 During Anaphase I: One or more homologous pairs of chromosome may not separate
 During Anaphase II: Sister chromatids of one or more chromosomes may not separate.

Results of Non-Disjunction

 Gametes may have one extra chromosome, one less or no chromosome.

 Abnormal gametes may fuse with a normal or another abnormal gametes which may results in
a genetic disorder.

Two general conditions of non-disjunction

1) Aneuploidy
 One gametes receives two copies of the same chromosome
 If fertilization occurs, zygote will have an abnormal number of chromosomes (one extra).
 If zygote has one extra chromosome, we say trisomic, and if one missing chromosome we
say monosomic.
 Down syndrome is an example of aneuploidy
Down syndrome
 Extra chromosome number 21
 Down syndrome is also called trisomy 21
 During meiosis I, chromosome pair 21 may not separate (non-disjunction)
 In meiosis II, chromatids of chromosome 21 may not separate.
 If a gametes with 2 copies of chromosome 21 fuses with a normal gametes they result in
zygote with 3 copies of chromosome number 21( 47 chromosomes instead of 46), resulting
in down syndrome.
CHARACTERISTICS OF DOWN SYNDROME

 Mental retardation
 Hearing loss
 Heart defects
 Decrease muscle tone
 Small ears
 Flatter forehead
2) Polyploidy
 Abnormal diploid gametes (2n) fuse with a normal haploid (n) gametes= Triploid (3n)
 Abnormal Diploid gametes (2n) with abnormal diploid gametes= Tetraploid(4n)
 More than two complete set of chromosome= polyploidy (many)
 Polyploidy common in plants

Advantages of polyploidy in Agriculture

 Produce large plants. E.g watermelons

 Plants with large flowers
 Plants with large fruits.
2. REPRODUCTION IN VERTEBRATE

DIVERSITY OF REPRODUCTIVE STRATEGIES IN SOME ANIMALS

 Different groups in the animal kingdom have developed reproductive strategies to ensure
reproductive success and survival of the species.
 In order for sexual reproduction to take place, two individuals (one male and one female)
must come together so that fertilization can occur.
1.EXTERNAL VERSUS INTERNAL FERTILIZATION
External fertilization
 Egg cell and the sperm cell fuse outside of the female‟s body.
 Water is always required- prevent egg from dry and for swimming of sperm cell
 Egg cells are generally inside the egg structures.
 The female lays her eggs and the male deposits his sperm cells over the eggs. Examples are
frogs and many species of fish.
Internal fertilization
 Egg cell fuses with the sperm cell inside the female‟s body.
 In some fish, most reptiles and all bird species, reproduction is internal but fertilization is cloacal
because eggs are produced.
 In mammals, copulation takes place when the male inserts the penis (copulatory organ) into
the vaginal cavity of the female.
 Fertilization takes place in the fallopian tubes.
2. EMBRYO DEVELOPMENT
 Once fertilization has taken place, the diploid zygote develops into an embryo. This
development takes place in an egg or in the uterus.
MODES OF GIVING BIRTH IN ANIMALS
Oviparous Viviparous Ovoviviparous
Eggs contain shell No eggs with a shell Eggs do not have a shell
Eggs are laid outside the female Eggs are not laid or kept inside The eggs remain inside the
body the oviduct of the female oviduct of the female
Eggs are incubated to complete Embryo develops inside the Embryo develops inside the egg
development of embryos in a uterus in the oviduct
nest
Eggs hatch outside the female Female gives birth to live young Eggs hatch inside the oviduct
body when development is and the female gives birth to live
complete young
Round worms, molluscs, Any 2 examples of mammals Lizards and snakes
insects, birds
  Viviparous: the embryo develops inside the uterus. A placenta nourishes the embryo. The
female gives birth to live young when the gestation period is complete.
 Oviparous: Eggs with shells are laid outside the female‟s body into a nest and continue to
develop, hatching when development is complete.
 Ovoviviparous: The fertilized eggs remain in the oviduct of the female. The eggs have no
shell and embryo feeds off the yolk (no placenta). When development is complete, the
female gives birth to live young.
3. THE AMNIOTIC EGG
 The amniotic egg has a porous leathery or hard eggshell to prevent the egg from drying out.
 There are three membranes: the amnion (protects embryo during development), chorion
(transfers nutrients from the albumen to the embryo) and allantois (respiration and for waste
disposal from embryo).
 Examples: Insects – eggs are not amniotic; Fish and amphibians: eggs are jelly-like without a
shell for external fertilization; Reptiles – amniotic eggs when oviparous: Birds: amniotic eggs

Amniotic Egg Diagram

4.PRECOCIAL AND ALTRICIAL DEVELOPMENT

 Precocial: young are mature and able to move directly after birth or hatching. They are able to
fend for themselves and feed without parental care. The young have feathers and are able to
fly. Eyes are open. Eg. Ducks, peacocks.
 Altricial: young are born helpless, cannot protect, feed themselves or fend for themselves.
Young have downy feathers. Eyes are closed Eg. finches and swallows.
COMPARISON OF PRECOCIAL AND ALTRICIAL DEVELOPMENT

PRECOCIAL DEVELOPMENT ALTRICIAL DEVELOPMENT

Egg contains about 40% of the yolk
Hatched with eyes open
Covered with down/ fur
Leave the nest within two days
Follow parents and learn how to feed straight
after birth
Examples: Ducks, Chicks, Game birds, buck,
girafee, zebra, cattle
Egg contain about 25% of the yolk
Hatched with eyes closed
Little or no down/fur
Unable to leave the nest until independent
Fed by parents until independent
Examples: Perching birds, Sparrows, Pigeons,
carnivores and rodents

5.PARENTAL CARE

 Ways in which parents increases the chances of the offspring survival

Ways of parental care

 Building nest
 Snakes guard the eggs.
 Eggs are retained inside the body
 Provide young with food.
 4. HUMAN REPRODUCTION

1) MALE REPRODUCTIVE SYSTEM

Consist of:

1) Pair of testes
2) Tubes
 Epididymis
 Vas deferens
 Ejaculatory Duct
 Urethra
3) Accessory glands
 Seminal vesicle
 Prostate gland
 Cowper‟s glands
4) Penis

TESTES

Responsible for the production of the sperm and the male sex hormone called testosterone.
Testosterone is responsible for:
 The secondary sexual characteristics when the male mature like a deeper voice, pubic hair and
facial hair.
  rapid physical growth at puberty
 the maturation of reproductiveorgans and production ofsperm

How sperm are produced?

 Sperm are produced by spermatogenesis which takes place in the seminiferous tubules that
make up the testes.
 Sertoli cell- rich in glycogen- Nourishes the sperm
 Interstitial cells/ cells of leydig - Secrete testosterone which stimulates production of sperm

N.B Temperature of the scrotum is 20C to 30C less that of the human body (i.e 33-340C) for the
production of healthy sperms

SCROTAL BAG

 Holds the testis and hangs outside of the abdominal cavity to regulate the temperature of the
testes at 350C.
 The scrotal sac can contract into the body when it is cold or relax and hang away from the body
if the temperature is high.

TUBES
3
a) Epididymis= Tube stores about 5000 million sperm per cm until the sperm mature and are
able to swim
b) Vas deferens= Tube that connects each testis from the epididymis to the urethra, just after the
urethra leaves the bladder. It carries sperm cell into the ejaculatory duct
c) Ejaculatory duct= forces semen through the urethra
d) Urethra= passage of urine and semen

ACCESSORY GLANDS

a) Seminal vesicle= Gland that secretes fructose which is an energy source for the sperm during
ejaculation
b) Prostate gland= Secretes mucus mixed with a slightly alkaline fluid during ejaculation to
increase motility of the sperm cells and neutralizes the possible acidity of the vagina
c) Cowper’s gland= Secretes mucus to stimulate motility of sperm cells

PENIS

 consists of masses of erectile tissue that surrounds the urethra

 During sexual stimulation, blood flows into the erectile tissue causing the penis to become erect
for insertion into the vagina during sexual intercourse.
 Semen (sperm and fluid) is ejaculated directly into the vagina (internal fertilization)
2. FEMALE REPRODUCTIVE SYSTEM

Consists of:

 A pair of ovaries
 Fallopian tube
 Uterus/womb
 Cervix
 Vagina

Ovaries

 two almond-shaped ovaries are located inside the abdominal cavity

 The germinal epithelium produces the egg cells.
 Produce the sex hormones oestrogen and progesterone.
 Once female matures sexually, an egg cell is produced each month and released during
ovulation.

Fallopian tube

 a tube that connects the ovaries to the uterus

 Egg cell moves along the fallopian tube to the uterus.
 Fertilization and the first stages of mitosis take place in the fallopian tube.

Uterus/womb

 A hollow, muscular, pear-shaped structure about 7,5 cm long and 5 cm wide, located inside
the pelvic cavity behind the bladder.
 Attachment of embryo after fertilization.
 Lined by the endometrium wall
 Embryo develops here

Cervix

 Opening between the Vagina and uterus.

  A mucus plug develops in the cervix during pregnancy.

Vagina

 a muscular tube 8 to 10 cm long

 with elastic tissue and a folded lining
 connecting the external area with the uterus and has an exterior opening called the vulva
 Links from the outside to the uterus.
 Able to stretch when penis is inserted during copulation and childbirth process because it forms
the birth canal
 Act as birth canal
 Menstrual flow pass through

GAMETOGENESIS

 Formation of gametes from germinal epithelium of sex organs through meiosis

A) Spermatogenesis
 Formation of sperm cell from germinal epithelium cell of the testis

Structure of sperm

Head Middle piece Tail

a) Head contains:
 Haploid nucleus containing genetic materials
 Acrosome- filled with enzyme that dissolve yolk membrane for fertilization to occur
b) Middle piece
 Contain mitochondria that provide energy to sperm cell
c) Tail
 Allows the sperm to swim

B) Oogenesis
 Formation of egg cell from germinal epithelium of the ovary

DIFFERENCE BETWEEN SPERM CELL AND EGG CELL

SPERM CELL EGG CELL

Small Large
Motile Immotile
Formed in the testis Formed in the ovary
No egg york Contain egg yolk
THE MENSTRUAL CYCLE

 The menstrual cycle is the series of events controlled by hormones that causes changes in the
ovaries and the endometrium in preparation of fertilization.
 The menstrual cycle lasts on average for 28 days
 Consists of two synchronized interconnected cycle being the ovarian cycle and the Uterine
Cycle.
A) Ovarian cycle and ovulation
 Influenced by Follicle stimulating hormone (FSH) secreted by the pituitary glands.
 FSH is secreted by the pituitary gland and transported via the bloodstream to the ovaries
where it stimulates the development of the follicle.
 The developing follicle produces oestrogen.
 Oestrogen will increase the thickness of the endometrium in the uterus.
 This is to prepare the uterus for pregnancy because the embryo will implant into the
endometrium.
 Oestrogen inhibits the secretion of FSH by the anterior pituitary gland so that no further
follicles are produced.
 This is why only one ovum is produced at a time.
 High oestrogen levels will trigger the secretion of luteinising hormone (LH) by the pituitary
gland.
 LH is released into the blood and is transported to the target organ, being the Graafian
follicle in the ovary and causes ovulation to occur at day 14
 Ovulation is the release of the secondary oocyte from the Graafian follicle.
 Each month one egg is released from one ovary at a time.
 LH stimulates the „empty‟ Graafian follicle to develop into the corpus luteum.
 Corpus Luteum secretes the hormone progesterone
  Progesterone has two target organs, namely the uterus and the anterior pituitary gland.
 In the uterus, thickening of the endometrium is maintained and glandular activity is
stimulated.
 Progesterone inhibits the release of LH and oestrogen.

B) Uterine Cycle and menstruation

 Graafian follicle secretes hormone Oestrogen
 Oestrogen prepares the uterus by making the endometrium wall thicker.
 After ovulation corpus luteum secretes the hormone progesterone.
 Progesterone further thickens the endometrium in preparation of fertilization.
 Progesterone maintain pregnancy if it occurs
 Should fertilisation not take place, the corpus luteum degenerates, causing the levels of
oestrogen and progesterone to decrease.
 The endometrium starts to break down and tear away from the walls of the uterus, causing
the bleeding associated with menstruation.
 This phase lasts for about five days.

ROLES OF HORMONES

 FSH is secreted by the pituitary glands and stimulate the development of the Graafian Follicle
 Oostrogen is secreted by the graafian follicle and thickens the endometrium in preparation of
pregnancy. It also stimulates pituitary glands to release LH.
 LH is secreted by the pituitary glands and causes ovulation to occur.
 Progesterone secreted by the corpus luteum and thickens the endometrium and maintains
pregnancy. Also inhibits secretion of FSH and LH
 
PUBERTY

 This is the period of growth when sex organs develop and begin to produce gametes.
 This process is controlled by hormones.
 Secondary sexual characteristics become more pronounced during puberty.

MALES – testes produce testosterone which FEMALES – ovaries produce oestrogen

trigger the following changes: which triggers the following changes:

Rapid growth in height. Rapid growth in height.

Hair growth in pubic region, armpits and face. Hair growth in pubic region and armpits.
Voice gets deeper. Breasts begin to develop.
Shoulders and chest get broader. Hips widen.
Penis and testes increase in size. Vagina grows in size.
Sperm production. Ovulation (egg release) and menstruation
(periods) occur.

FERTILIZATION, DEVELOPMENT OF ZYGOTE AND IMPLANTATION

Diagram of fertilization and implantation

Fertilization

 Process of a sperm cell fusing with and egg cell to form a zygote
 Acrosome of the sperm cell releases an enzyme that breaks down the cell membrane of the
egg, allowing the nucleus of the sperm to enter and join with the egg nucleus.
 As soon as this happens the membrane of the egg changes so as not to allow any other sperm
to enter.
 Zygote divides by mitosis to form a blastocyst (hollow ball of cells) and is moved along the
fallopian tubes/oviducts by the cilia towards the uterus for implantation.

Implantation

 Process of the attachment of the blastocyst into the lining of the endometrium in the uterus
 Once the blastocyst is implanted into the endometrium lining, finger-like outgrowths called villi
absorb nutrients and anchor the embryo.
 The cervix secretes a mucus plug which seals the uterus and prevents entry of bacteria.
 Corpus luteum secretes progesterone to ensure no ovulation takes place and to maintain uterus
lining.

GESTATION/ PREGNANCY

 Period between fertilization and birth.

 Nine months/ 40 weeks/280 days
 After 12 weeks/ three month embryo is called foetus
 Blastocyst develop membrane called extra embryonic membrane
 Chorion= outside
 Amnion inside filled with amniotic fluid.

Functions of amniotic fluid

 Acts as a shock absorber= protect foetus

 Prevent dehydration of the embryo
 Keeps the foetus within a small temperature range
 Allow movement of foetus

Development of the placenta and amnion

 The placenta is a combination of cells from the foetus and the mother, which develops from
about 12 weeks of pregnancy.
 It allows for the exchange of a number of substances. The umbilical cord attaches the foetus
to the placenta.
 Nutrients, oxygen and hormones diffuse from maternal blood into foetal blood and
transported to foetus by the umbilical vein.
 Carbon dioxide and nitrogenous wastes diffuse from foetal blood into maternal blood via the
two umbilical arteries so that it can be excreted.
 Antibodies from maternal blood ensure passive immunity against diseases.
 The placenta ensures that there is no direct link between the mother‟s blood and that of the
developing foetus.
Functions of placenta

 Serves for attachment of the embryo to the mother.

 Allow diffusion of dissolved food.
 Allow diffusion of oxygen and carbon dioxide.
 Allow diffusion of nitrogenous wastes
 Placenta secrete own progesterone to maintain pregnancy

BIRTH PROCESS

The process of birth is called parturition. It occurs in three stages:

Labour: The walls of the uterus begin to contract, indicating the onset of labour. This uterine
contractions cause the amnion to burst and the amniotic fluid is released and the cervix dilates.
Expulsion: The uterine contractions force the baby down through the pelvic bones and through the
vagina (birth canal). The umbilical cord connecting the baby to the placenta is cut and tied off.
Afterbirth: The mother will undergo more contractions to expel the placenta. The placenta is now
called the afterbirth.
Questions
 5. GENETICS AND INHERITANCE

Introduction

 Genetics is the study of heredity and variation in living organisms

 Inheritance – the set of characteristics that have been passed from parent to offspring
 Heredity – the transmission of characteristics from parents to their offspring
 Every child inherits genes from their biological parents that express specific traits.
 Some of these trains may be physical for example eye colour or hair colour etc.
 Some genes may also carry certain risk of disorders and diseases.
 Johann Gregor Mendel the “father of genetics” demonstrated that traits are transmitted from
 parents to offspring independently of other traits and in dominant and recessive patterns
Mendel’s observations

 The characteristics of an organism are passed on from one generation to another by genes.
 The genes exist in pairs. (TT/Tt/tt)
 One of the genes comes from the father and one comes from the mother
 If a dominant and recessive gene of a trait exist together (Tt), the dominant (T) form mask the
recessive trait (t).
 The recessive gene can be present even though it is not physically visible (Tt).
Concepts in Inheritance

 Gene is a segment of DNA that controls

a specific hereditary characteristic
 Genome is the complete set of genes of
a particular organism

 From a gene pair, one gene is paternal and the other is maternal
 The gene occurs in two (sometimes more) different forms that affect the same characteristic in
different ways
 Allele is the alternative forms of the same gene/pair of gene found in the same locus
 But a particular gene has a specific position on a chromosome
 Locus is the specific position of a gene on a chromosome
 Gene: Height

T – tall

t – short

TT Tt Tt Genotype
Tall Tall Short Phenotype
(homozygous) (Heterozygous) (Homozygous)

 Dominant – the allele of a gene pair that can mask another and be visible in the organism (T)
 Recessive – the allele that is masked and is not visibly expressed in the organism (t)
 Homozygous – when two alleles for a particular characteristic on the homologous
chromosomes are the same
 Heterozygous – when two alleles on the homologous chromosomes differ from each other
(HYBRID)
 Genotype – the genetic composition of the gene pair for a specific trait
 Phenotype – the physical characteristics of an organism determined by its genotype as well as
its environment/physical observable appearance of an individuals

STATE MENDEL’S LAW

A) Mendel’s law of Dominance

 When two individuals with pure breeding contrasting characteristics are crossed, the F1
generation all display the dominant characteristic

B) Mendel’s law of segregation

 During gametogenesis the two alleles of a gene separate so that each gamete will receive one
allele of a gene for a specific characteristic/trait
C) Mendel’s law of independent assortment
 Factors/gene sort themselves out independently during gametes formation

Or

 Alleles of a gene for one characteristics segregate independently of the alleles of a gene of
another characteristics.

MONOHYBRID CROSSES
 A cross where only one hereditary characteristic is investigated at a time
STEPS:

 Underline key words

 Use template
Template;

P1 Phenotype: ×

Genotype : ×

Meiosis
Gametes : ×

Fertilization:

F1 Genotype: Express as either ratio, fraction

Phenotype: or percentage
TYPES OF DOMINANCE
1) COMPLETE DOMINANCE

When homozygous of contrasting characteristics are crossed all the offspring of f1, display
dominant traits
 If one allele is dominant and the other is recessive, such that the effect of the recessive
allele is masked by the dominant allele in the heterozygous condition
 Results in only the effect of the dominant allele expressed in the phenotype
 The effect of the recessive allele is only expressed in the phenotype if the gene pair is
double recessive (tt).

BB bb

Bb Bb Bb Bb

EXAMPLES
1.P1 phenotype Tall x Short

Genotype TT x tt

Meiosis (Mendel’s Law of Segregation)

Gametes T , T x t, t
Fertilisation

F1
Tt Tt Tt Tt
Genotype: Tt (Principle of dominance)
Phenotype: Tall

(Individuals of F1 all display the dominant characteristic)

 2. P 1 phenotype Tall x Tall
Genotype Tt x TT
Meiosis

Gametes T t TT

Fertilisation
F 1 Genotype: 2 TT, 2 Tt
Phenotype: 2 Tall 2 Short
Ratio 1 : 1

3. P 1 phenotype Tall x Tall

genotype Tt x TT
Meiosis

Gametes Tt T T

Fertilisation

F 1 Genotype: 2 TT, 2 Tt
Phenotype: 2 Tall 2 Short
Ratio 1 : 1

2) INCOMPLETE DOMINANCE
When homozygous of dominant contrasting characteristics are crossed all the offspring of f1 display intermediate or
third phenotype

RR WW

R W

RW

 None of the two alleles of a gene is dominant over the other, resulting in an
intermediate phenotype in the heterozygous condition
P1 phenotype Red x White
genotype RR x WW
Meiosis
Gametes R R x W W
Fertilisation
F1 RW RW RW RW
Genotype: RW
Phenotype: Pink

3) CO-DOMINANCE
When homozygous of dominant characteristics are crossed the offspring of F1 display phenotype
where both allele equally dominant and both allele express themselves in the phenotype

 Both alleles of the gene pair are equally dominant and both are expressed in the
phenotype in that heterozygous condition

P1 phenotype Red x White

genotype RR x WW
Meiosis
Gametes R R x W W
Fertilisation
F1 RW RW RW RW
Genotype: RW
Phenotype: Roan (both red and white)
(Both alleles are equally dominant and are expressed in the phenotype)
 HUMAN KARYOTYPE

 Somatic cells are all body cells except sex cells in an organisms
 Gametes are sex cells (sperm cell or egg cell)
 Humans have a double set chromosomes which is a Diploid number (2n)
 Humans have 46 chromosomes which is 2n = 46
 Since they are diploid it means they are paired.
 Each chromosome pair is similar in shape, size and genetic composition
 Each chromosome of the pair is inherited from the mother (maternal) and the other from the
father (paternal)
 This pair of chromosomes is referred to as a Homologous pair
 Gametes only have a single set of chromosomes which is referred to as Haploid number (n)
 Human games have 23 chromosomes (n=23)
 A human karyotype is a complete diploid set of chromosomes, arranged according to their size,
shape and number in homologous chromosome pairs within a somatic cell of an organism

 The human karyotype consists of 22 pairs of Autosomes and one pair of Gonosomes
 Autosomes – all chromosomes except sex chromosomes and are located from position 1 to 22
 Gonosomes – sex chromosomes that determine gender and are located on position 23 in
humans
 A female has two X Gonosomes, meaning female has 44 + XX
  A male has one X and one Y gonosome, meaning a male has 44 + XY
 All normal human somatic cells contain 46 chromosomes or two sets of 23 chromosomes.
One set of 23 chromosomes comes from the father and the other set of 23 chromosomes
comes from the mother.

SEX-LINKED INHERITANCE

 Gonosomes not only control gender, but also carry other genes which are known as sex
linked genes
 The Y chromosome is very small and almost carries no other genes
 The X chromosome is larger and carries many other genes
 Genetic disorders are thus mainly carried on the X chromosome
 If a disorder is caused by a recessive like Haemophilia it will be carried on the X
chromosome, therefore it will affect male more than females since a male has a single
 X and Y chromosome and thus needs only one recessive allele to have the disorder.
While a female has two X chromosomes (XX) and therefore needs to have two
recessive alleles to have the disease.
 Therefore there is a higher probability for a male to in inherit a sex linked disorder
than a female.
Sex-linked disorders

A. Haemophilia
 A condition where blood takes a long time to clot due to lack of clotting factors
 A gene mutation caused by a recessive allele on the X chromosome.

H – normal dominant allele h – abnormal/affected allele,

XH – Normal Xh- abnormal/affected Y- doesn’t carry any allele for the disorder
MALE FEMALE
XHY – a normal male XHXH – normal female
XhY – abnormal/affected/haemophialiac male XHXh – normal female but a carrier of the disorder
XhXh - abnormal/affected/haemophialiac female
P1 phenotype Male haemophiliac x Female normal (carrier/heterozygous)
h H h
genotype X Y x X X
Meiosis
h H h
Gametes X Y X X
Fertilisation
H h h h H h
F1 Genotype: X X , X X , X Y, X Y
Phenotype: Normal Haemophilia Normal Haemophilia
female female male male

B Red-green colour blindess

 Visual defect resulting in an inability to distinguish between certain colours
 Also caused by a recessive allele carried on the X chromosome

D – normal dominant allele d – abnormal/affected allele,

XD – Normal Xd- abnormal/affected Y- doesn’t carry any allele for the disorder
MALE FEMALE
XDY – a normal male XDXD – normal female
XdY – abnormal/affected/haemophialiac male XDXd – normal female but a carrier of the disorder
XdXd - abnormal/affected/haemophialiac female

BLOOD GROUPING
 Co-dominance and complete dominance occur in the inheritance of blood groups in humans
 There are four different blood group phenotypes and are controlled by one gene (AOB gene) with three
possible alleles (Multiple alleles)
 Three alleles that control blood type are IA , IB and i.
 Multiple alleles – when a gene has more than two possible alleles to control a hereditary
characteristic
 Blood group (phenotype) Genotype
A IAIA/IAi
B IBIB /IBi
AB IAIB
O Ii

 Allele IA and allele IB are both dominant over allele i (complete dominance)
 Allele IA and IB are co-dominant
 Blood groups are therefore an example of a gene with multiple alleles, the alleles occur at the same
locus on a particular homologous chromosome pair

P1 Phenotype AB x O
AB
Genotype I I x ii
Meiosis

Gametes I A IB and i i

Fertilisation

A B
F1 Genotype: I i and I i
Ratio: 1 : 1
Phenotype: Blood group A and Blood group B
Ratio: 1 : 1

PATERNITY TESTING

 Blood groups can be used in paternity testing if the blood types of the child and both parents are
known
 But it is not very effective because it only excludes a man as the parent but it cannot confirm that a
particular man is the father, since a large portion of the population has the same blood type.
 Dihybrid Crosses
 Investigating two pairs of contrasting characteristics, carried on different homologous pairs

ALL GgRr

Investigating two pairs of contrasting characteristics, carried on different homologous pairs

Example: Pea plant homozygous for yellow and round seeds crossed with a pea plant homozygous for
green and wrinkled seeds. Yellow and round seeds are dominant
 Pedigree diagram
Pedigree diagram traces the inheritance of characteristics over many generations
Pedigree diagram traces the inheritance of characteristics over many generations
It also traces the inheritance of genetic disorder in the family
It is comprise of parents, offspring, and generation
Pedigree without key NB
(Male-square/female-circle) (Square shaded-affected male/circle shade-affected female)
Follow the following 6 steps when interpreting pedigree diagrams
1. Study any key and opening statement/s and look for dominant characteristics and phenotypes
2. Write in the phenotypes of all the individuals as given in the problem.
3. Fill in the genotype of all the individuals with the recessive condition- it has to have 2 lower case letters e.g. ff
4. For every individual in the diagram that has the recessive condition, it means that each gene was obtained from each
of the parents. Work backwards and fill in one recessive gene for each parent.
5. If the parents showed the dominant characteristic fill in the second letter which has to be a capital letter.
6. Any other individual showing the dominant characteristic will most likely be homozygous dominant – two capital
letters

Interpretation of pedigree diagrams

PEDIGREE STEPS
The diagram below shows the pattern of 1  Identify if the disorder is Autosomal or sex-linked
inheritance of deafness in a family. The  If Autosomal do not use X and Y chromosomes
letter H represents the allele for hearing  If sex-linked make use X and Y chromosomes plus the
and h represents the allele for deafness. given alleles
KEY: 2  Identify if the disorder is caused by a dominant or
Normal female affected female recessive allele

In this example it is Autosomal since it was not mention that it is sex-

linked or affects the X chromosome. Also it is caused by a recessive
Normal male affected male allele
3 Write down all possible genotypes
 Normal – HH/Hh and affected – hh
Choose one that has only one possible genotype then fill on
the diagram
 In this case it is hh, therefore Lyall’s genotype is hh
4  The other possible genotypes left to fill in are HH and Hh.
 Notice that in both genotypes the first allele is always
dominant H.
5 Therefore fill everyone on diagram with the first allele as H
and leave space next to the allele
H_ all the individuals left
Now start solving for the missing allele by starting with last
generation. So we solve going up. To solve we use the notion that
each individual will inherit a single allele from each parent
6 We now use any one with two recessive alleles to fill in the
missing allele
In this case it’s Lyall (hh) whose genotype suggests that he
inherited one recessive allele from each of his parents. Thus
Gabby and Paul’s genotypes are Hh. Since Mieke’s parents
(Gabby & Paul) are both heterozygous it means she can have
HH/Hh as her genotype since she can inherit any alleles from
them with exception of two recessive alleles.
7 Now move up to the next generation. In the next generation
we are left with Fiona’s genotype to find but we know she
has H_. Since in this generation there is no homozygous
recessive we can use her parents in the next generation.
Linda has two recessive alleles which means all her offspring
will always have at least a single recessive allele and thus
Fiona’s genotype is Hh.
PEDIGREE STEPS
The diagram below shows the pattern of 1  Identify if the disorder is Autosomal or sex-linked
inheritance of the sex-linked disorder  If Autosomal do not use X and Y chromosomes
Haemophilia in a family. The letter H  If sex-linked make use X and Y chromosomes plus the given
represents the allele for normal and h alleles
represents the allele for affected. 2  Identify if the disorder is caused by a dominant or recessive
KEY: allele

Normal female affected female In this example it is sex-linked and it is caused by a recessive allele

3 Fill in all the X and Y chromosomes on the diagram based on the

key. Males = XY and Females XX
Normal male affected male
4 Write down all possible genotypes
 Normal female – XHXH/XHXh and affected female XhXh
 Normal male – XHY and Affected male XhY
Choose one that has only one possible genotype then fill on the
diagram. In this case it is the male’s genotypes for both normal
and affected as well as the genotype an affected female. Use the
key to fill in.
1 2  This means individuals 1, 3 & 8 have the genotype XhY
 Individual 5 have the genotype XHY
 Individual 4 has genotype XhXh
We are now left with individuals that can have either XHXH/XHXh as
their possible genotypes

5  Notice that in both genotypes the first allele is always

dominant H.
3 4 5 6
6 Therefore fill everyone on diagram with the first allele as XH and
leave space next to the allele
XHX all the individuals left
Now start solving for the missing allele by starting with last
generation. So we solve going up. To solve we use the notion that a
male inherits an X chromosome from his mother and a Y
7 8 chromosome from his father.
7 We now use the males to fill in the missing allele of the females.
In this case individual 8 (XhY) suggests that he inherited a
recessive h from his mother which is individual 6. Therefore
individual 6 has the genotype XHXh. Individual 7 inherited XH
from her father (individual 5) and therefore can inherit either XH
or Xh and still be normal and hence the genotype of individual 7
can be XHXH either or XHXh. Individual 2 is the mother of both
individual 3 & 5 and since they both have different X
chromosomes (XH & Xh) and they received their Y chromosomes
from their father (individual 1). Their X chromosomes represent
the genotype of individual 2 which is XHXh
MUTATIONS

 A mistake or change that occurs during DNA replication or meiosis of cell division
 Mistake in the copying process and that lead to change in the genetic code of the individual
 If the genotype of the individual change also the phenotype will change
 During protein synthesis if mutation occurs it lead to formation of different protein hence it
change the sequence of amino acid
 In genetics it lead to formation of new structure that will also function differently

Causes of mutations

 Environmental agents e.g. X-rays, ultraviolet radiation, cosmic rays, chemicals and certain
drugs
 It occurs in both somatic and sex cells

In somatic cell it will results in disorder like cancer and genetic disorder like:

 Haemophilia- absence of blood clotting factors,

 Colour blindness- due to absence of protein that comprise either the red and green cones
 Down syndrome – due to extra copy of chromosome 21 as the results of non- disjunction
during meiosis

In the sex cell can be inherited by the offspring eg haemophilia

TYPES OF MUTATION

1. Gene mutations
 Occurs as a result of a change in the nucleotide sequence in the DNA molecule
 Results in a change in the code for protein synthesis which leads to formation of a faulty
protein or no protein at all
 Gene mutations occur during; DNA replication, transcription and crossing over

Two types of gene mutations

A) Point mutation
 Change in a single base pair in the DNA molecule at one point
 E.g. AAA TTT TAT GCG TCG GTA CGT BEFORE
 AAA TTT TAT GCG ACG GTA CGT AFTER
 Change in the DNA base will change the corresponding base on mRNA codon
 If mRNA base change will results in tRNA anticodon to change
 Different amino acids will be coded for and different protein will be formed
 New protein may not function in the same way as the original protein E.g. sickle cell
anaemia

B) Frame –shift mutation

 Single base pair of DNA may be added or deleted from the DNA molecule
 E.g. TTA AAA TAT CTT TAT CTG BEFORE
 TTA AAA TAT CTT TGAT CTG AFTER ADDITION
 TTA AAA TAT CTT TTC TG AFTER DELETION
 From the point of addition or deletion new mRNA is formed
  mRNA will read from a new frame of 3 bases
 different amino acid will be coded for, different protein will be formed with new function
2. Chromosomal mutation/aberration

 Refers to the change in the structure or number of chromosomes

 Occur when meiosis does not occur properly
 Usually caused by Non-disjunction

Types :

 Deletion- section of chromatid is simple lost

 Duplication- section of chromatid is doubled
 Inversion- section of chromatid gets turned
 Translocation – chromatid break off and join no-homologous chromosome

N.B Most chromosomal mutation is caused by non-disjunction in meiosis

EFFECTS OF MUTATIONS ON THE STRUCTURE OF AN ORGANISM

 Mutation may be harmful/lethal or harmless

A. Harmful mutation

 Disadvantageous
 Dangerous
 Cannot be inherited
 If organism happen to inherit it dies before birth
 Cannot result in evolution

B. Harmless or silent mutation

 Have no effect on the structure or functioning of the organism which possesses them
 Usually occur on non-coding DNA and don‟t affect protein synthesis
 Are expressed on the phenotype of the organisms but are passed on to future generations
 Since more than one codon codes for a specific amino acid, this type of mutation can
change one codon to one of the other possible codons for that amino acid and will
therefore not affect an amino acid sequence
 Some mutations can appear on the phenotype of organisms and have no effect e.g.
freckles in humans

C. Useful/advantageous mutations
 Some mutations can be advantageous to the organism
 This means new alleles develop that could favour adaptation to a changing environment
 Therefore mutations contribute to genetic variation
 The favourable characteristics are usually passed down to the next generation while the
unfavourable characteristics tend to disappear (Natural selection- survival of the fittest)
GENETIC DISORDERS CAUSED BY MUTATIONS

Haemophilia Colour blindness Albinism Down syndrome Sickle cell anemia

Blood does not The person cannot The lack of the The person has an extra -Caused by a mutation that
clot because differentiate pigment in the copy of chromosome 21 leads to change in amino acid
proteins for between different skin due to due to no-disjunction sequence
blood clotting colours due to absence of during meiosis -Results in sickle-shaped red
factors are not absence of the the protein blood cells that carry less
produced necessary protein that forms oxygen to cells
for melanin -Causing decrease in cellular
photoreception respiration leading to less
energy being generated
-Person is then is often tired
or fatigued

Sex-linked Sex-linked -Autosomal -Autosomal -Autosomal

-caused by - caused by gene -caused by -caused by chromosome -caused by gene mutation
gene mutation mutation gene mutation Mutation

Useful mutation, natural selection and evolution

Genetic codes of individuals are different due to:

 Gametes produced by meiosis

 Chance fertilization
 Mutations
 Random fertilization
 Offspring of the same species show a great deal of variation
 Individuals with advantageous characteristics compete successful
 Survived and reproduce offspring
 This is called natural selection
 Nature select organisms that can best adapted to the environment
 As natural selection occurs from one generation to the next new species evolved

GENETIC ENGINEERING/GENETIC MODIFICATION/GENETIC MANIPULATION

 The direct manipulation of the genes of an organism to satisfy human needs

 Also known as Genetic modification
 In order to obtain a desired characteristic, the relevant gene from a cell in one organism is
transferred to a cell in another organism
 Genetic engineering also replaces faulty or missing genes that cause disorders or
diseases
 In genetic engineering a gene is identified in a healthy cell and is extracted and a vector is
used to transfer it to a defective cell where it is integrated into the organisms genome
 The genes are transferred to the defective cell using a Vector
 A vectors is a virus or bacteria used to transfer an isolated gene into a defective cell
 Recombinant DNA is the new DNA that is formed using genetic engineering
 Gene therapy is the integration of genes for therapeutic purposes in cells with faulty or
missing genes
Genetically modified organisms (GMO)

 GMO‟s are the result of genetic engineering

 GMO‟s can be microbes or animals or plants

Importance of genetic engineering and GMO’s

 Synthesis of medicinal drugs

 Production of crops
 Cloning
 Stem cell research

Advantages of genetically modified food

 Increase yield of food to prevent hunger

 Increase vitamin content of food to improve human life
 Enhance taste of food for increase marketability
 Increase shelf life of product to reduce spoilage
 Organisms resistance to pest/insects/drought to decrease production cost
 Cheaper to produce lowering the price

Disadvantages of genetically modified food/GM

 Loss of biodiversity
 Displace indigenous plant
 Negatively affects food chain
 Unknown long term effects
 Can cause health risk
 Playing God
 Violation to animal rights
 It is expensive process as biotechnology is involved
 Interfere with hormones production

CLONING

 The production of an individual which is genetically identical to the one from which it was
produced e.g futhi and dolly
 Cloning involves the use of somatic cell to produce new organism

Example of cloning below

PROCESS OF CLONING

 Haploid egg cell for organism is removed

 Haploid Nucleus from the egg cell is removed
 Diploid somatic cell is removed from the organism to cloned
 Diploid Nucleus from the somatic cell is removed
 And placed into the empty egg cell
 Electric current is used to stimulate mitosis
 Embryo is placed in the uterus for development
 Embryo born will be identical to cloned individual

Arguments in favour of cloning/advantages

 Producing individuals with desired traits

 Better yields
 Resistant to diseases
 Organisms produce in a short time
 Saving endangered species
 Producing body
 Produce offspring for organisms that cannot have offspring

Arguments against cloning/disadvantages

 Interfere with God creation

 Reduce variation
 May develop morphological problems
 Costly process
 May generate more experimental waste
 Cruelty to animals

STEM CELL
 Cell that are actively dividing and not yet differentiated and may give rise to any type of cell
when they mature

Source of stem cell/harvest of stem cells:

 Embryo
 Blood in the umbilical cord
 Placenta
 Bone marrow

Uses of stem cell

 Can be used to produce organ

 Replace diseases
 Replace damage cell
 Can be used to treat diabetes

Should stem cell research be continued?/argument for:

 Provide replacement for organ to improve human health

 Embryo is a only a tiny amount of tissue can be used to help others
 Not immoral is not destruction of embryo if is eight cell stage
 Stem cell can be stored and used in future
 Can be used for research to cure different diseases

Stem cell should not be continued/arguments against

 Expensive process money can be used to create jobs

 Only rich can afford to store cell
 Interfere with creation
 Morally wrong- embryo is human/ New life begins after fertilisation/fertilized egg is human
 The danger in future not known
 Can lead tom illegal trade to make money

MITOCHONDRIAL DNA (MTDNA) AND GENETIC LINKS

 mtDNA occurs in the mitochondria and is not related to nuclear DNA

 mtDNA codes for enzymes involved in cellular respiration
 During fertilization the sperm cell and ovum each contain separate mtDNA but the mtDNA
of the sperm cell does not from part of the zygote since the tail of a sperm is discarded
during fertilization meaning the mtDNA of an individual is inherited via female genetic line.
 Therefore the mtDNA of individuals can be used to tell how closely related organisms are
and create genetic links
6. RESPONDING TO THE ENVIRONMENT (HUMANS)
 STRUCTURE AND FUNCTIONING OF NERVOUS TISSUE

 Nervous tissue: Animals have a complex system of nervous tissue called neurons or
nerve cells to send information to the central nervous system.
 Nervous tissue is adapted to carry and react to all stimuli.
 A nerve is composed of nerve fibres that are held together by connective tissue.
 One nerve consists of millions of neurons.
 A neuron consists of:
 A cell body contains large nucleus to control cellular activities.
 Dendrites branching fibres responsible for making contact with other neurons.
 Axon fibre leading away from cell body that carries impulse (insulated by the myelin
sheath).

THREE TYPES OF NEURON

Sensory Neurons Motor Neurons Inter neurons /

connector neurons

Structure: Unipolar (one pole) or Multipolar with many Multipolar with many
bipolar (two poles). dendrites dendrites
Function: Always conducts impulses Always conducts impulses Links (connects) the
from the receptor (sense from the CNS (spinal sensory neurons to the
organ) cord and brain) motor neurons
to the CNS (spinal cord to the effectors (muscles in the brain and spinal
and brain). and glands) to bring about cord.
a response.

SENSORY AND MOTOR NEURON STRUCTURE

Neuron Structure Function

Nucleus controls all the cell‟s functions

Cell body consists of cytoplasm with a nucleus
Cytoplasm  contains fine neurofibrils that extend into the axon and
dendrites
 contains Nissl bodies that contain rRNA responsible for protein
synthesis
Myelin sheath  covers and protects the axon (provides electrical insulation)
 may also be responsible for repairing damage to the axon

Axon conducts impulses away from the cell body

Dendrites receive impulses and conduct them to the cell body

Motor Neurons and Connector

Neurons (multipolar)
[You must know the position of the following structures: nucleus, cell body, cytoplasm,
myelin sheath, axon, dendrites to draw and label.)

 Transmission of nerve impulses: the synapse is the point where an impulse passes
from the terminal branch of one neuron to the dendrite of the next neuron.
 The neurons do not touch each other. The gap between the two neurons is called the
synaptic gap.
 Neurotransmitters carry the impulse across the synaptic gap.
 Once they reach the opposite side, enzymes destroy the neurotransmitters to prevent the
impulse from being carried backwards.
 Significance of the synapse: The impulse can only ever travel in ONE direction.

THE CENTRAL NERVOUS SYSTEM

 Composed of the brain and the spinal cord, which together work as the control centre that receives
information from all parts of the body.
 The brain and spinal cord are protected by the skull and three membranes known as the meninges:
 Dura mater (outer membrane): tough and found just below the skull.
 Arachnoid membrane: thin.
 Pia mater (inner membrane): rests on the brain and spinal cord and is well supplied with
blood vessels.
 Cerebrospinal fluid (CSF) fills the spaces between the membranes and has the following functions:
 Acts as a shock absorber.
 Provides chemical environment for proper functioning of the brain and spinal cord.
 Supplies nutrients and removes wastes for CNS.
 Maintains even pressure around CNS.
THE BRAIN

matter region of
brain.

- Connects left and right

Hypothalamus

Pituitary
gland

Medulla oblongata:

- Controls vital reflexes like

breathing,

SPINAL CORD

 Protected by the vertebrae, the 3 meninges with the cerebrospinal fluid.

 The spinal cord is the pathway for all the impulses that are conducted to and from the brain and also
processes reflex actions.
 Sympathetic and parasympathetic nerve impulses are conducted along the spinal cord to all organs.
 The reflex arc: is the path travelled by the nerve impulses from the sensory neuron, through the
connector neuron, to the motor neuron and then to the effector.
 Path: receptor sensory neuron connector neuron motor neuron effector

 The reflex action: is a rapid automatic response to a stimulus that is received by a sensory organ, to
ensure a quick response.
 Significance of the reflex action: It allows the body to respond very quickly, to protect itself against
possible injury, e.g.: pricking finger, knee jerk reaction, removing hand from a candle flame/hot stove
plate etc.
Functioning of a simple reflex arc using the finger prick as an example:
 The finger is pricked by a pin.
 Sensory receptors in the skin of the finger receive the stimulus.
 The physical stimulus is transformed into a nerve impulse by receptors.
 The sensory neuron conducts the impulse to the spinal cord through the dorsal root of the
spinal cord,
 Over the synaptic connection to the dendrite of the connector neuron.
 The impulse is transmitted from the connector neuron
 Over the synaptic connection to the dendrites of the motor neuron cell body.
 It is carried away from the spinal cord by the axon of the motor neuron
 And exits the cord through the ventral root.
 The terminal end branch of the motor neuron ends in the muscles of the forearm (the
effector)
 Causing the muscles to contract and pull the hand away from the painful stimulus of the
pin prick.

PERIPHERAL AND AUTONOMIC NERVOUS SYSTEM (PNS)

The Autonomic Nervous System:

 Functions involuntarily and automatically and is NOT controlled by the will.

 It maintains homeostasis by controlling vital activities.
 It consists of nerves that are connected to the hypothalamus of the central nervous
system.
  The autonomic nervous system is subdivided into:
 the sympathetic
 parasympathetic nervous systems that function antagonistically.
 The sympathetic nerves stimulate organs to prepare the body for action.
 The parasympathetic nerves slow the systems down and bring the body back to a
state of rest.
 Each organ in the body is supplied with nerves from both systems and is termed double
innervation. The organs are stimulated (sympathetic) or inhibited (parasympathetic) by
the autonomic nervous system.
 Functions regulated automatically by the autonomic nervous system include:
(a) the heartbeat and breathing rate (through the medulla oblongata)
(b) digestion and peristalsis
(c) pupil size (to restrict the amount of light entering the pupil)
(d) bladder size
(e) sweat glands
(f) liver function
(g) amount of blood in the arteries (vaso constriction and vaso dilation)

Peripheral nervous system:

 Consists of sensory cells called receptors that respond to stimuli.

 When the receptors are stimulated, they convert the stimulus into a nerve impulse.
 This nerve impulse is transmitted along sensory neurons to the central nervous system.
 There are 12 pairs of cranial nerves and 31 pairs of spinal nerves that enter from the body
and form part of the peripheral nervous system.

Examples of receptors:
 Photoreceptors are sensitive to light stimuli, for example the eye.
 Chemoreceptors are sensitive to chemicals as a solution or gas, for example the tongue and
nose.
 Mechanoreceptors are sensitive to changes in pressure such as touch, sound and
gravitational stimuli, for example the ear, skin, muscles and tendons.
 Proprioceptors: They respond to gravitational pull to maintain balance and equilibrium of
muscles and tendons.
Disorders and Injuries of the Human Nervous System

Disorders

Name of disorder Possible causes Symptoms Treatment

Alzheimer’s disease - Old age. - Memory loss. There is no cure but
(disease of the brain - Genetic link. - Speech difficulties. some drugs help to
causing slow decline - Head injuries. - Personality and treat the symptoms
in brain functioning). - Lack of exercise, mood changes. and slow the
unhealthy diet - Difficulty in doing normal progression of the
increases risk. daily activities. illness.
Multiple Sclerosis - Immune system - Blurred or loss of vision. There is no cure but
(MS) (disease whereby attacks the myelin - Loss of co-ordination drugs can help treat
scarring on the myelin sheaths of the and balance. symptoms.
sheaths interrupt nerve neurons causing - Muscle spasms and
impulses). disruption in dizziness
impulse - Decreased
transmission. concentration and
memory loss.
- Depression

Injuries to the brain and spinal cord

 Injuries to the brain and spinal cord are serious and often the effects are permanent, such
as brain damage, coma and paralysis.
 The use of stem cells is being investigated to treat spinal cord injuries.

RECEPTOR ORGANS

 Receptor organs are able to detect a range of stimuli such as light, temperature, sound,
pressure, pain, tastes, smell and so on.
A) The human eye
 The eyes are organs that make it possible for us to see.

Functioning of the eye – path of light:

 Light rays pass from an object to the eye, through the transparent convex cornea, aqueous
humour, the biconvex lens and vitreous humour.
 As the light rays pass through the curved surfaces of the cornea and the lens, light is
refracted (bent).
 The lens refracts the light rays and forms an inverted (upside-down) image on the retina,
bringing the image into focus by making fine adjustments.
 The rod and cone cells (photoreceptors) are stimulated by the light rays and convert the
stimulus into impulses.
 These impulses are transmitted along the optic nerve across the optic chiasma (cross-over)
so that impulses enter the lower visual centres on opposite sides of the mid-brain at the
occipital lobes.
 The upright images are interpreted for size, shape and colour of the object that was seen.

Accommodation:

 Binocular vision means to see with TWO eyes (bi = two).

 We are able to focus on one object with both eyes increasing the field of vision.
 A sharp image falls on each retina.
 The image from the left eye is always slightly different to the image from the right eye.
 The two images join in the brain (occipital lobes) and results in stereoscopic vision, which
allows us to judge distance, depth and size of objects.
 The eyes can change the convex curve of the lens and therefore the focal length.
 This process is termed accommodation.
Near vision (round lens) Distant vision (long lens)

(an object is closer than 6 metres)
1. ciliary muscles contract
2. suspensory ligaments to slacken
3. tension on the lens decreases
4. lens becomes more convex and
Rounded
5. light rays are more refracted (bent)
6. light rays are focussed onto the retina
(yellow spot)
(an object is further than 6 metres)
1. ciliary muscles relax
2. suspensory ligaments tighten (become
taut)
3. tension on the lens increases
4. lens becomes less convex and
Flatter
5. light rays are less refracted (bent)
6. light rays are focussed onto the retina
(yellow spot)

Pupillary mechanism / Pupillary reflex action:

 The pupillary mechanism is a reflex action regulated by the Autonomic Nervous System, to
prevent excess light from passing into the eye at one time.
 Excess light will cause damage to the retina and the photoreceptors (rod and cone cells).
 The iris functions to control the amount of light that enters the eye by controlling the size
of the pupil.
 The circular and radial muscle fibres in the iris regulate the size of the pupil.
VISUAL DEFECTS

a) Short-sightedness
 This is also called myopia or near-sightedness.
 It is a refractive defect where the image focuses in front of the retina because the cornea
is too rounded/Eye ball too long
 Distant objects are seen as blurred.
 Myopia may be genetic or it may result when people place regular strain on their eyes by
working on computers or in a job where they are required to focus closely on objects, like
microscope work.
 Glasses and contact lenses that are concave [)(] are prescribed to reduce refraction.
 Refractive surgery may be an option, where the cornea is reshaped to flatten it and so
decrease refraction.
 This causes the image to be focused onto the retina.
b) Long-sightedness
 This is also called hypermetropia or farsightedness.
 Cornea too flat/eyeball to small
 This is a refractive defect where the image focuses behind the retina.
 The person will not be able to see objects when they are close by, as the images are
blurred.

 This condition is caused by the following:

 An eyeball that is too short (genetic): This is corrected with prescription
eyeglasses or contact lenses which assist to increase refraction of light by using
convex lenses [()].
 When the lens cannot become round enough during accommodation: This may
be genetic or it may be as a result of aging. As one ages, the ciliary muscles are
unable to contract enough to cause the lens to become rounder. Eyeglasses or
contact lenses are prescribed to assist to increase refraction of light by using
convex lenses [()].
  A cornea that is too flat: Refractive surgery is performed in extreme cases

Astigmatism
 This is an optical defect that results in blurred vision.
 It is caused by an irregular curvature of the cornea or the lens so the eye has different focal
points that occur in different planes.
 Glasses and hard contact lenses correct the irregular focal points.

Cataracts
 This is the clouding of the lens when the lens cortex liquefies to form a milky white fluid.
 Cataracts progress over time and may result from long-term exposure to ultra- violet light,
radiation, diabetes, hypertension, old age and physical trauma.
 Genetically, people may have a predisposition to cataracts.
 Cataracts must be removed surgically.
 Extra-capsular surgery (ECCE) can be used to remove the lens, leaving the lens capsule
intact.
 Intra-capsular surgery (ICCE) is used when both the lens and capsule are removed.
 The lens is replaced with a plastic lens in both cases.

B) The human ear

 The ears are the sense organs for hearing.
 Mechanoreceptors in the ear are stimulated by sound waves, which are converted to
impulses.
 The impulses are transmitted via sensory neurons to the auditory centre in the cerebral cortex
of the brain where they are interpreted.
 The ears are also the organs for balance and equilibrium.
 These impulses are transmitted via sensory neurons to the cerebellum where they are
interpreted to ensure balance and equilibrium.
Functioning of the human ear - path of sound
 Sound waves move from the vibrating source (for example, a person talking or a car driving
past) in horizontal waves.
 Humans hear sounds with a vibration frequency of between 16 and 20 000 Hz.

Part of ear Function during hearing process

Pinna Traps the sound waves and directs them into the auditory
canal
Tympanic membrane Vibrates to the frequency of the sound waves and transmits
(ear drum) the vibration to the ossicles in the middle ear

Ossicles The three ossicles (the hammer, anvil and stirrup) amplify
the vibrations
The stirrup passes the vibration through the oval window,
into the inner ear

Oval window Vibrates and causes pressure wave movements in the liquid
of the perilymph
in the inner ear to the endolymph inside the cochlea

Cochlea These vibrations cause the sensory cells in the Organ of

Corti (the mechanoreceptors) to brush or bend against the
membranes converting the stimulus into an impulse

Auditory nerve Transmits the impulse to the cerebrum where the sensation
of sound is perceived and interpreted
Round window Excess vibrations are passed out through the round
window, to prevent pressure and echoes

Balance and equilibrium

The human ear is responsible for maintaining balance.

 The semi-circular canals each have a swelling called the ampulla.
 The ampulla contains fine sensory hair cells called crista.
 When there is a change in speed or direction, the crista is stimulated and a nerve impulse
is discharged.
 This impulse is transmitted along the auditory nerve to the cerebellum where it is
interpreted.
 The cerebellum will send impulses to the muscles, to restore balance.

 The sacculus and utriculus contain sensory hair cells called maculae.
 When the head position changes, the pull of gravity stimulates the maculae, which
convert the stimulus into an impulse, transmitted along the auditory nerve to the
cerebellum where it is interpreted.
 The cerebellum will send impulses to the muscles, to restore balance.

HEARING DEFECTS

Hearing defect Causes Treatment

Middle ear infection Middle ear becomes infected  inserting grommets

(called otitis media) with bacteria. Pressure builds up (allows excess fluid to
(pus and excess fluid) in the drain from middle ear)
middle ear behind the ear drum,  antibiotics
causing extreme pain.
Deafness A. Injury to parts of the ear,  Hearing aids (amplify
(„hearing impairment‟, nerves or parts of the brain. sounds)
„hard of hearing‟ or B. Hardened wax collected in  Cochlear implants
„deafness‟) the auditory canal (stimulates the auditory
C. Hardening of ear tissue nerves with an
like around ossicles electronic field, inside
the cochlea)
 Animal able to sense and respond to light
 describe the path taken by light through the eye until it is converted into an impulse
7. HUMAN ENDOCTRINE SYSTEM
 The human endocrine system is a chemical messenger system consisting of a group glands
that secrete hormones directly into the circulatory system to regulate the function of distant
organs
 Hormones are organic chemical messengers secreted directly into the blood by an endocrine
gland. Hormones cause target organs to perform a specific function.
 The body both endocrine and exocrine glands

DIFFERENCE BETWEEN AN ENDOCRINE AND EXOCRINE GLAND

 Exocrine gland Endocrine gland

Description Exocrine glands are glands that glands that secrete hormones directly
secrete substances into ducts that into the circulatory system to regulate the
lead into cavities in the body or lead function of distant organs
directly to

the external environment

Examples sweat glands, mammary glands, the Hypothalamus, Pituitary

liver, salivary glands and the gland/hypophysis, Thyroid gland, Islets
pancreas of Langerhans in the pancreas, Adrenal

glands, Ovary, Testis

DIFFERENCES BETWEEN THE ENDOCRINE SYSTEM AND THE NERVOUS SYSTEM

Endocrine system Nervous

system
Made up of glands Made up of nerves
Produces hormones Produces nerve impulses
Hormones transported by the blood Impulses transmitted along the nerves
Effects are slower and more general Effects are very quick and very specific
Hormones control long-term changes (e.g. Nerve impulses control short-term
growth) changes (e.g.
sneezing, lifting your arm)

Similarities between hormones and nerves

 They respond to internal and external stimuli

 They protect organisms

How endocrine glands function

 The Endocrine system works in conjunction with the Nervous system

 The endocrine system is responsible for chemical coordination, regulating the

functioning of all the organs in the body

Location of glands and the hormones they secrete and functions

Hormones of the pituitary gland

Hormone Function
Growth Hormone (GH) - Stimulates the growth of the long bones/skeletal
muscles.
Follicle Stimulating Hormone Stimulates follicle development in the ovaries of
(FSH) females.
Luteinising Hormone (LH) Stimulates ovulation/formation of the corpus luteum in
the
Ovaries
Thyroid Stimulating Hormone Regulates the growth of the thyroid gland/secretion of
(TSH) thyroxin
Prolactin Stimulates the production of milk by the mammary
glands
ADH Regulates the water content in the blood

Oxytocin Stimulates labour contractions during child birth

Negative feedback definition

 Homeostasis is a process of maintaining a constant internal environment

(blood and tissue fluid) within the body.
 This enables the body to function efficiently, despite changes in the external
or internal environment.
 Negative feedback mechanisms operate in the human body to detect changes or
imbalances in the internal environment and to restore the balance.
 Negative feedback mechanism thyroxin

Thyroid disorders

THYROXIN UNDERSECRETION THYROXIN OVERSECRETION

 the basal metabolic  increase in rate of metabolism
rate/rate of respiration will  Weight loss
decrease  Irritable/anxiety
 the energy levels will decrease  Hyperactive
 tissue growth and development  Increase in heart rate
will be hindered  Tiredness
 the heart rate will slow down
 Weight gain
 hypothyroidism

Goitre

 the thyroid gland requires Iodine to

function properly
 absence of iodine in the body causes goitre
 Goitre is the swelling of the neck resulting
from an enlargement of the thyroid gland
and causes difficulties in swallowing
 Negative feedback mechanism: TSH and thyroxin
Disease caused by under-secretion of the hormone insulin.

Detected by Secretes Target Action

The pancreas Cells Stimulates cells to
absorb excess
glucose
Liver Stimulate the liver
to convert glucose
+ into glycogen
the Islets of
Increase in Langerhans -
Glucose secretes (Beta
cells) Insulin Blood glucose
above level decrease
normal back to normal

Detected by Secretes Target Action

- The pancreas the Islets of Liver Stimulate the liver +
Decrease in Langerhans secretes to convert glycogen Blood glucose level
Glucose (Alpha cells) into glucose decrease back to
Below Glucagon normal
Normal

Negative feedback
Diabetes mellitus

Causes Symptoms Management of diabetes

mellitus
 Inadequate secretion insulin  Glucose in the urine  Exercise
 Non-secretion of insulin  Frequent urination  Eating diet suitable for
 Production of defective insulin  Extreme thirst diabetic person
 Body cells resistant to the  Fatigue  Using prescribed
action of insulin  Weight loss medication/drugs
 Inability of the cells to use  Blurred vision
glucose efficiently  Non-healing of wounds

1. Role of adrenalin
Hormone that prepares the body to cope with emergency /danger

/stress Situations Function:

 Causes blood vessels of the skin/digestive system constrict

 Less blood flows to the surface of the skin
 but the blood vessels to the heart muscles and brain dilate
 Re-directing more blood /more oxygen and food to vital organs
 The heart rate also increases
 Rate and depth of breathing increases
 The conversion of glycogen to glucose is promoted in the liver
 Metabolic rate increases
 muscle tone increases, so they function more effectively
 pupil dilate
 To enable the body to respond during an emergency