4.

3 Theoretical Genetics
4.3.1 - Define genotype, phenotype, dominant allele, recessive allele, codominant alleles,
locus, homozygous, heterozygous, carrier and test cross
Genotype - The alleles of an organism
Phenotype - The characteristics of an organism
Dominant Allele - An allele that has the same effect on the phenotype whether it is present
in the homozygous or heterozygous state
Recessive Allele - An allele that only has an effect on the phenotype when present in the
homozygous state
Codominant Alleles - Pairs of alleles that both affect the phenotype when present in a
heterozygote
Locus - The particular position on homologous chromosomes of a gene
Homozygous - Having two identical alleles of a gene
Heterozygous - Having two different alleles of a gene
Carrier - An individual that has one copy of a recessive allele that causes a genetic disease in
individuals that are homozygous for this allele
Test Cross - Testing a suspected heterozygote by crossing it with a known homozygous
recessive

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4.3.2 - Determine the genotypes and phenotypes of the offspring of a monohybrid cross
using a Punnett grid
Genetics crosses allow us to determine the genotype and phenotype of offspring, using the
Punnett grid method.
Cross = Heterozygote (Rr) x Heterozygote (Rr)
Male
Female
R
r
R = Dominant gene
Ovules

Pollen
R
r
RR
Rr
Rr
rr
r = Recessive gene

In this example, there are three genotypes in the ratio:

1RR : 2Rr : 1rr
The phenotypes for the offspring with the dominant gene will all express this gene in their
phenotype. Only the genotype rr results in a phenotype with the recessive gene. Hence,
there are two phenotypes in the ratio:
3 Dominant : 1 Recessive

4.3.3 - State that some genes have more than two alleles (multiple alleles)
There are some genes that have more than two alleles. However, an individual can only
possess two alleles. Multiple alleles increase the number of different phenotypes in a given
population. Multiple alleles can be dominant, codominant or recessive.

4.3.4 - Describe ABO blood groups as an example of codominance and multiple alleles
In the human ABO blood group system, the blood group can be determined by three
different alleles, meaning that there a multiple alleles. These are A, B and O. ABO antigens
are sugars attached to the surface of red blood cells. Each allele codes for enzymes that join
theses sugars together.

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O produces a non-functioning enzyme that does not make any changes to the basic
molecule. A and B are codominant (expressed equally), producing different antigens. These
antigens react with antibodies present in the blood from other people, which must be
matched for transfusion.
These can also be written IA, IB and i. I stand for immunoglobin
Phenotype

Genotype

O
A
B
AB

ii
IAIA or IAi
IBIB or IBi
IAIB

4.3.5 - Explain how the sex chromosomes control gender by referring to the inheritance of
X and Y chromosomes in humans
Gender is determined by the sex chromosome inherited from
each parent. Males are referred to as the heterogametic sex.
Each somatic cell has one X chromosome and one Y chromosome.
Females are homogametic. Somatic cells with two X
chromosomes. X chromosomes are longer than Y chromosomes.
Sex chromosomes are the 23rd pair.
The only possible phenotypes from a cross are male and female XX or XY. The ratio of
karyotypes is therefore:
1XX : 1XY

4.3.6 - State that some genes are present on the X chromosome and absent from the
shorter Y chromosome in humans
There is a size difference between the X and Y chromosomes. A male will only have one
allele for genes that occur in the non-homologous region of the X chromosome. Genes in
the homologous region will have to alleles, functioning like other genes. Females always
have two alleles because the complete length of X chromosome has a homologous pair.

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4.3.7 - Define sex linkage

Genes carried on only one of the sex chromosomes and which therefore show a different
pattern of inheritance in crosses where the male carries the gene from where the female
carries the gene
When a gene is sex linked, the characteristic is usually seen in the heterogametic sex
(human males). Examples include red-green colour blindness and haemophilia.

4.3.8 - Describe the inheritance of colour blindness and haemophilia as example of sex
linkage
Colour Blindness
Red-Green colour blindness is produced by a sex-linked, recessive allele. The gene loci is on
the non-homologous region of the X chromosome. Males must inherit the gene from their
mothers. Males cannot pass the gene onto their sons. A female can carry the gene without
expressing it.

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Haemophilia
Haemophilia is produced by sex-linked, recessive alleles. Males are always affected, but
females can be carrier. It is inherited from the mother. Haemophilia is a condition in which
blood clotting factor cannot be produced, causing uncontrolled bleeding. It is more common
in men than women.

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4.3.9 - State that a human female can be homozygous or heterozygous with respect to
sex-linked genes
Homozygous - having two identical alleles of a gene
Heterozygous - having two different alleles of a gene
Females can be homozygous for sex-linked alleles, with both alleles have the same gene. On
the other hand, they can be heterozygous, with each chromosome carries a different gene.
Condition

Homozygous

Heterozygous

Haemophilia
Red-Green Colour blind

XhXh, XH XH
Xb Xb, XB XB

XH Xh
XB Xb

4.3.10 - Explain that female carriers are heterozygous for X-linked recessive alleles
Carriers for recessive alleles have both the dominant and the recessive allele. The disease is
recessive, so it is not expressed in the carrier's phenotype. They have two different alleles of
a gene.

4.3.11 - Predict the genotypic and phenotypic ratios of offspring and monohybrid crosses
involving any of the above pattern of inheritance
Cystic fibrosis is found on the autosomal chromosomes. It is a recessive disorder in which
the allele key is dominant CF and Cf for the recessive allele.

CF
Cf

Female
Gametes

Male Gametes
CF
Cf
CF CF
CF C f
CF Cf
Cf Cf

Therefore the ratio of phenotypes is:

3 No Disease : 1 With Disease
Therefore, the child has a 75% chance of not having the disease.

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4.3.12 - Deduce the genotypes and phenotypes of individuals in pedigree charts

Geneticists collect information about individuals and relatives within a family. They
construct diagrams of inheritance, or family trees, which are called pedigrees. Circles are
females, squares are males, diamonds are for unknown, small black circles means died at
infancy. Carriers are marked with a small black dot in the centre. Identical and fraternal
twins are shown as:

Black means the individual has the condition, white means unaffected. Mating is indicated
by a horizontal line

For dominant and recessive alleles, upper case and lower case letter should be used. Letter
representing alleles should be chosen with care to avoid confusion between the cases. For
co-dominance, the main letter should relate to the gene, and the suffix to the allele
i.e. Sickle cell anaemia: HbA and Hbsb
Individuals are identified by their generation and order number. Generations are written I,
II, III, IV, etc. Orders are simply 1,2,3. The propositus is the person through whom the
pedigree is discovered.

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