Genetics

CSEC Biology Section C

Genes
Genes are specific sections of chromosomal DNA
molecules

● Basic units of heredity

● There are over 30,000 genes per cell
● Each gene controls a particular characteristic
● Genes control the production of proteins in cells
(mainly enzymes), each gene controls the
production of a specific protein.
Genes
One organism contain identical combinations of
genes

Different organisms contain different combinations of

genes making them unique.

Organisms that are twins or have asexual parents are

identical.

Within cells genes are active while other genes are

inactive
Eg. the nerve cells genes are active and the genes that
control the activity of muscle are inactive.
Chromosomes Genes are carried in the chromosome which are in the
nucleus of every cell.

Each chromosome is made up of many genes.

Most cells contain pairs of homologous

chromosomes. Two chromosomes of a pair are called
homologous chromosomes.

1 from the mother (maternal)

1 from the father (partenal)

Chromosomes
Each chromosomes of a homologous pair carries
genes for the same characteristic in the same place.

The locus is the position of a gene in the

chromosome.
Humans Humans have 46 chromosomes

23 pairs of homologous chromosomes

23 chromosomes from the mother

23 chromosomes from the father

Of the 23 pairs of chromosomes

22 pairs are autosomes

1 pair is sex cell. They determine the sex of the

individual (XY) (male or female).
Characteristics
There are 2 genes giving the instructions about a
characteristic

The form a gene defining a characteristic in different

ways are called alleles

Eg. the ability to roll tongue R or r

Possible combinations are RR, Rr or rr

If two alleles are the same, they are called

homologous RR or rr

If two alleles are different, they are called

heterozygous Rr
What is
homozygous (1) or
heterozygous (2) ?
TT

Rr

rr

WW

Ee

tt
Characteristics
Genotype is the genetic representation of the gene

RR, Rr, rr

Phenotype is the physical representation of the gene

tonge roller or non tongue roller

a) Black fur

b) Tt

c) Red hair

d) ll

e) Ll
CHaracteristics
Dominant in the heterozygous form this characteristic
is expressed

Rr: tongue roller , therefore the R allele is dominant

Recessive the characteristic that is hidden by the

dominant allele

Rr: the r characteristic is hidden (non- tongue roller)

Let R represent
Genotype Phenotype
tongue roller

Let r represent non RR Tongue roller

tongue roller Rr Tongue roller

rr Non tongue roller

Let R represent red WHat is the phenotype ?

colour

Let r represent white Genotype Phenotype

Rr

R is dominant over r RR

rr

Rr
 Genetics

CSEC Biology Section C

Genetic
diagrams
Let B
represent
Brown eyes

Let b
represent
Blue eyes
Genetic diagrams Let N represent normal pigment
Let n represent ablino

Male Female
Parental phenotype
Normal pigment albino
Parental genotype NN nn

Gametes N N n n

Fertilisation

Nn Nn Nn Nn
1st gen. Genotype
Normal normal normal normal
1st gen. Phenotype

Ratio
All normal
Genetic diagrams Let N represent normal pigment Self the f1 generation
Let n represent ablino

Male Female
Parental phenotype
normal normal
Parental genotype Nn Nn
N n N n

Gametes

Fertilisation

NN Nn Nn nn
1st gen. Genotype
Normal normal normal albino
1st gen. Phenotype

Ratio
3 (75%): 1 (25%)
Genetic diagrams Let N represent normal pigment Cross a heterozygous and
a homozygous recessive
Let n represent albino
for the trait

Male Female
Parental phenotype
Normal ablino
Parental genotype Nn nn

N n n n
Gametes

Fertilisation

Nn Nn nn nn
1st gen. Genotype
Normal normal albino albino
1st gen. Phenotype

Ratio
2 (50%): 2 (albino)
Punnett square

N n

N NN Nn

n Nn (upper case alway nn

written first)
Punnett square

A A

a Aa Aa
Aa
a Aa
Test cross or back cross Let N normal
Let n albino

Homozygous dominant (NN) (normal)and heterozygous (Nn)

(normal) individuals have the same phenotype. You will not
be able to tell which is which just by looking at time.

A test cross or back cross is used to determine the

genotype of individuals which have the same phenotype.

In a test cross, the individual is crossed with a homozygous

recessive (nn) and the offspring examined.
Genetic diagrams
Cross a heterozygous and
Let N represent normal pigment
a homozygous recessive
Let n represent ablino for the trait

Male Female
Parental phenotype
normal albino
Parental genotype
Nn nn
N n n n
Gametes
n n

Fertilisation N Nn Nn

n nn nn
Nn Nn nn nn
1st gen. Genotype
Normal normal albino albino
1st gen. Phenotype

Ratio
2 (50%) normal; 2 (50%) albino
Genetic diagrams Let N represent normal pigment Cross a homozygous
dominant and a homozygous
Let n represent ablino
recessive for the trait

Male Female
Parental phenotype
Normal albino
Parental genotype NN nn

N N n n
Gametes
n n

Fertilisation N Nn Nn

N Nn Nn
All Nn
1st gen. Genotype
All normal
1st gen. Phenotype

Ratio
100% normal
Back cross
Examination of the offsprings
If all offsprings are normal then the parent will be
homozygous dominant (NN).
Offspring 100% normal

If the offsprings have varying characteristics (phenotype)

the parent will be heterozygous (Nn).
Offspring 50% normal, 50% albino.
 Use a genetic diagram to show how a couple with normal pigmentation may

Genetic produce an albino child. Use the following symbols to represent the
alleles:

diagrams
A – normal; a – albino. (5 marks)

Male Female
Parental phenotype
Normal normal
Parental genotype Aa Aa

A a A a
Gametes
A a

Fertilisation A AA Aa

a Aa aa
AA Aa Aa aa
1st gen. Genotype
3 normal: 1 albino
1st gen. Phenotype

Ratio
75% normal (3) ; 25% albino (1)
Codominance
When neither allele dominates the other such that influence both
alleles is visible in the heterozygous individual.
These alleles show codominance where characteristics show
blending or combination of expression of both alleles.
Eg pink flowers, blood groups, sickle cell trait.
Impatiens plants
Allele R produces red flowers
Allele W produces white flowers
RR - red
RW - pink (heterozygous produce blending)
WW - white
Codominance

Purebred homozygous
dominant crossed with
purebred homozygous
recessive
 When the f1
Codominance generation is
selfed
What offspring will
you expect, and in
what proportion. If
two F1, generation
plants were crossed
in figure shown?
Codominance- Blood groups
A and B are dominant over
O

A not dominant over B nor

is B dominant over A they
show codominance
Codominance Sickle cell anaemia
The blood of a person with sickle cell
anaemia contain abnormal haemoglobin.
Insead of the normal haemoglobin A.

The disease is caused by an abnormal

allele. The normal allele HbA
stimulates the production of normal
haemoglobin A (biconcave shape). The
abnormal allele HbS stimulates the
production of abnormal haemoglobin
(sickle shaped)
Sickle Cell Anaemia
Genotype Haemoglobin produced Phenotype

HbA HbA 100% haemoglobin A Normal

HbA HbS 55-65% haemoglobin A Sickle cell trait. Usually no symptoms.

34-45% haemoglobin S Symptoms of sickle cell anaemia may develop
in very low oxygen concentrations. Eg. high
altitude or during extreme physical exercise.

HbS HbS 100% haemoglobin S Sickle cell anaemia. Symptoms of sickle cell
anaemia develop which include painful crises,
anaemia, increased vulnerability to infections
and jaundice.
Codominance
Sex linked
A sex chromosome is a type of chromosome that
participates in sex determination. Humans and
most other mammals have two sex chromosomes,
the X and the Y. Females have two X chromosomes
in their cells, while males have both X and a Y
chromosomes in their cells. The Y chromosome is
missing piece of DNA

The sex chromosomes carry genes other than

those that determine sex. The characterisitcs
of those genes are said to be sex-linked, and
they are carried on the x chromosome.

Eg. haemophilia and colour blindness.

Haemophilia
Haemophilia is a mostly inherited genetic disorder that
impairs the body's ability to make blood clots, a process
needed to stop bleeding. This results in people bleeding for
a longer time after an injury, easy bruising, and an
increased risk of bleeding inside joints or the brain.

H- dominant gene causes blood to clot normally

h- recessive gene causes haemophilia.

Haemophilia

Sex Genotype Phenotype

Female XHXH Normal (⅔ %)

XHXh

XhXh Haemophilic (⅓) %

(carrier)

Male XHY Normal (50%)

XhY Haemophilic (50%)

Colour blindness
Sex-linked condition where the suffer i unable to
distinguish differences between certain colours.

N- dominant allele normal vision

n- recessive allele colour blind

The alleles are carried on the X chromosome and missing on

the Y
Colour Blindness
 A normal man married a normal woman and all the female offspring were

Genetic normal, but about half of the male offspring were colour-bling and the
other half normal.

diagrams
How do you account for this?

Male Female
Parental phenotype
Normal normal
Parental genotype XHY XHXh

Gametes

Fertilisation

1st gen. Genotype

1st gen. Phenotype

Ratio
Pedigree
CHart that shows how a specific trait is passed down among
family members. Pedigree charts can be used to determine
genotype or possible genotypes of the individual.

To predict possible genotypes and phenotypes of future

offspring.

The information is used by genetic counsellors to identify

potential risks for future developing a genetic disorder.
 XHY XhXh
Xh Xh

XH XHXh XHXh

Y XhY XhY
 D: dimples
d : no dimples
male:dd
Female: Dd or
DD

D d

d Dd dd

d Dd dd
 E e

e Ee ee

e Ee ee

E no attached
earlobes
e attached earlobes

Male: EE Ee
Female; ee