S5 BIO (GENETICS) Part 1A
S5 BIO (GENETICS) Part 1A
INCOMPLETE DOMINANCE.
This is a condition whereby a gene is neither dominant nor recessive over the
other.Thus the F1, offspring are intermediate between the two parents in appearance.
For example,
(i) when a red flowered rose plant is crossed with a white flowered one, the offspring
produced were pink flowers which are an intermediate colour between white and red.
The heterozygous condition produces different phenotypes from the homozygous state
of either allele.
(ii) In production of blue Andalusian fowls by crossing pure-breeding black and splashed
white parental stocks.
In genetics, genes responsible for incomplete dominance will have both of their alleles
represented by capital letters but of different kinds.
EXAMPLE.
In a domestic fowl, a cross between pure breeding black and pure breeding splashed
white parental stock fowls, produced F1 offsprings, all were blue Andalusian fowls.
(i) What phenotypes were produced in the F1 offsprings.
(ii) What will be phenotypes of the offsprings when the F1 offsprings interbreed.
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(i) Let B represent allele for black coat while W represent allele for white coat.
F1 genotype : BW
F1 Phenotype : Blue coat.
Genotype of the F2 BB BW BW WW
offsprings,
Phenotype of the F2 1 Black, 2 Blue, 1 white
offsprings :
CODOMINANCE.
It is a condition whereby the genes controlling contrasting characteristics are neither
dominant nor recessive over each other. The F1 offsprings do not show intermediate
characteristic but instead both characteristics of the two pure line parents express itself
independently and both characteristics will appear in the offspring. The genetic crosses
of incomplete dominance condition is done like for codominance, where the two genes
are represented with capital letters of different kinds. Examples of Codominance
include,
(i) Coat colour in some breeds of cattle like in a cross between a black bull and a white
cow. The F1 offsprings are all roan, they show patches of black and white coat.
(ii) In inheritance of coat colour in cats, where a cross between a cat with black coat
with one with a yellow coat, produced all offsprings with tortoise shell coat.
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(iv) In human ABO blood group system.
In genetics, genes responsible for codominance will have both of their alleles
represented by capital letters but of different kinds just like for incomplete dominance.
EXAMPLE.
Consider (ii) above , where in In inheritance of coat colour in cats, a cross between a
cat with black coat with one with a yellow coat, produced all offsprings with tortoise shell
coat.
Let B represent allele for black coat, while Y represent the allele for yellow coat.
Give the phenotype ratio of the offsprings when the F1 offsprings are selfed.
EXERCISE
1.In the guinea pig (Cavio) there are two alleles for hair colour, black and white and two
alleles for hair length, short and long. In a breeding, experiment, all the F 1 phenotypes
produced from a cross between pure breeding, short- black haired and pure breeding
long white- haired parents produced offsprings which were short black haired. What will
be phenotypes of the F2 offsprings, show your working clearly. Assuming that random
and independent assortment of the chromosomes determining colour and length of the
hair occurred during meiosis.
2. A cross between long stemmed plant producing red flowers and short stemmed one
producing white flowers produced all Offsprings with short stems but producing pink
flowers. Determine the phenotype ratio of the Offsprings when the F1 Offsprings are
selfed. The genes controlling stem length and flower colour in this plant are not linked.
Show your working clearly.
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LINKAGE
Linkage is where several genes are carried on the same chromosomes. While linked
characters are characteristics controlled by genes carried on the same chromosomes.
There are two types of linkages,
AUTOSOMAL LINKAGE.
This is where several genes controlling particular characteristics are llocated on same
non-sex chromosomes called autosomal chromosome.
● Any one linkage group are transmitted together and linkage groups found in particular
species corresponds to the number of different types of chromosomes, determining
various characteristics of the species. For example, In maize, there are 10 pairs of
chromosomes and 10 different linkage groups.
As earlier stated, any one linkage group are transmitted together but independent of the
genes in the other linkage groups and do not show independent assortment and do not
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conform to the mendelian Di-hybrid phenotype ratio of 9: 3: 3:1. However, in a breeding
experiments involving linkage, produce a variety of unique Di-hybrid phenotype ratios
i.e. 3: 1, 6: 2: 2: 6. Etc.
Consider a cross between pure-breeding grey-bodied long winged and black bodied
vestigial winged drosophila. All the F1 offsprings were grey bodied, vestigial winged.
Determine the phenotype ratio of the F2 offsprings. Assuming the two contrasting
characteristics are linked.
Let
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SELFING THE F1 OFFSPRINGS (SELF FERTILIZATION OF F1 OFFSPRINGS)
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EXERCISE
1. A homozygous purple flower short- stemmed plant was crossed with a homozygous
red-flowered long- stemmed and the F1 phenotypes had purple flowers and short stems.
The genes controlling colour and height of the the stem are linked. If the F 1 generation
was selfed.
What would be the F2 generation considering that
(i) There was no crossing over.
(ii) Crossing over had occurred.
(Show your working clearly in (i) and (ii)).
Genotype Numbers
RrQq 105
rrqq 103
Rrqq 25
rrQq 29
(a) State the phenotype ratio of the results shown in the table above.
(b) Using the appropriate genetic symbols explain how the above results were
achieved after mating between the two genotypes stated above.
(c) In what other ways could the above result be different. Explain using appropriate
genetic symbols provided above.
SEX-LINKAGE.
This is where several genes are located on the same sex chromosome or X-
chromosome.
In humans, there are 23 pairs of chromosomes within the cell, each pair of
chromosomes is structurally the same except in only one pair, the 23 rd pair of the
homologous chromosomes, which show structural differences in males and females.
These are the sex chromosomes or heterosomes. All other chromosomes are known as
autosomal chromosomes or autosomes. These chromosomes show similar
structures in males and females.
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The sex chromosomes are of two types, the X chromosomes and the Y chromosomes.
The X chromosome is larger and rod shaped, while in drosophila it is hooked. While the
Y chromosomes is lighter, smaller and Y shaped.
In humans and other mammals, sex is determined by the two sex chromosomes, the X-
chromosome and the Y-chromosome. The genotype of the sex chromosomes for males
is XY, while that for females is XX. During gamete formation where meiosis occurs, the
sex chromosomes segregate in a typical Mendelian fashion such that all the ova formed
contains only X chromosomes, while in males, half of the sperms formed contain Y
chromosomes and the other half contains X chromosomes.
During fertilization, if an ovum carrying only X chromosome fuses with a sperm also
carrying an X chromosome, the resulting offspring will be a female with a genotype XX
and if a sperm carrying a Y chromosome fuses with an ovum carrying X chromosome,
the offspring will be a male with a genotype XY.
Organisms that produce same types of gametes, where all the reproductive cells (ova)
contain X chromosomes are known as Homogametic. For example, the human female
produces only one type of gametes with the entire ovum carrying only the X
chromosomes. And organisms that produce gametes of two different types, where some
reproductive cells (gametes) contain X chromosomes while others contain Y
chromosomes are known as Heterogametic sex. For example in the humans, males
produce 2 types of gametes, half sperms contain X chromosomes, the other half contain
Y chromosomes. In humans the XX genotype is homogametic, whereas the XY
genotype is heterogametic.
Generally the genotype of the female is XX and that of male is XY. These
characteristics of genotypes of the sex chromosomes are found in most animals
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including humans, but in the case of birds, moths and butter flies the sex genotypes are
reversed. The females are XY and the males are XX.
In some insects, such as the grasshoppers, the Y chromosome may be absent entirely
and so the male has the genotype X0 while the female chromosome is XX.
In some organisms, the Y chromosome does not carry any genes and described as
genetically empty or inert.
In humans, the Y chromosome carries a gene known as sex related Y gene (SRY
gene). The SRY gene determines production of proteins called testis determining
factor. This factor switches on other genes, causing embryo to develop male organ
structures. The testes develop and hormones which promote the development of male
sexual organs and secondary sexual characteristics are secreted. The SRY genes also
activate a gene on chromosome 19 that stimulates production of a protein called
mullerian Inhibiting substance, they suppress the development of female structures
and destroy female structures early in their development.
Lack of testis determining factors results in the development of female genital organs.
Therefore all embryos are females unless active testis determining factor makes them
males.
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SEX LINKED AND SEX LIMITED CHARACTERS
Sex linkage is where the genes are carried on sex chromosomes. Where genes are
carried on X chromosomes it is X linkage. In some cases, a few genes may be located
on Y chromosomes, this is a Y linkage. Many of genes are carried on X chromosomes.
Examples of sex linked (X linked) conditions in humans include,
HAEMOPHILIA.
Is a condition in which the. blood does not clot normally. It often results into excessive
bleeding both internally and externally in times of injuries. This condition mainly arises
due to lack of clotting factor VIII (also called antihaemophiliac globulin, AHG). The gene
for factor VIII is carried on the X chromosome. Haemophilia is a sex linked (X linked)
character caused by the recessive allele, the normal allele is the dominant.
In all sex- linked traits, females who are heterozygous are described as carriers of the
trait they are phonotypical normal but half their gametes carry the recessive gene which
can possibly be transmitted to their offspring in the next generation.
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The cases of sex- linked traits i.e. haemophilia affect more males than females. This is
because the females only suffer from the disease when in a homozygous recessive
conditions, but the recessive genes are relatively rare in a population. In addition in the
heterozygous females, both dominant and recessive alleles are present, the recessive
allele is normally masked (overshadowed) by the appropriate dominant gene which
occurs on the other X chromosome. In the other hand when the recessive gene occurs
in males., it expresses it self because the Y chromosome cannot carry any
corresponding dominant gene since it is presumed to be empty and can not be masked
by any other dominant normal gene.
EXAMPLE:
In situation where a carrier hemophiliac female marries a normal male, they may have
children with phenotypes as shown below.
Let
H represent normal allele for blood clotting
h represent abnormal allele for hemophilia
XX represents female sex chromosomes.
XY represents male sex chromosomes.
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RED-GREEN COLOUR BLINDNESS.
This is a condition in which a person cannot distinguish between red and green colours.
It is caused by recessive allele carried on the X chromosome. The pattern of inheritance
of red-green colour blindness is similar that of haemophilia. But the frequency of the
colour blindness is higher than that for haemophilia. This is because colour blind
individuals can not only distinguish between red and green colours but this does not
lead to the death of the persons suffering from colour blindness. So, the colour blind
person survives until they reproduce offsprings, transmitting their recessive allele to the
next generations, the recessive allele frequency increase in a population. While a
haemophilic individual can excessively bleed to death in times of injuries. So, many of
them die before they can reproduce. The recessive allele in this way is prevented from
being passed from one generation to the next and their allele frequency decreases in a
population.
MUSCULAR DYSTROPHY.
Duchenne muscular Dystrophy (DMD) is a tragic, wasting disease affecting infant
children mainly boys, where muscles of the body are replaced by fibrous tissue,
resulting into progressive body weakness and difficulty in breathing. This disease can
result to death of the sufferer at an early age (before the age of 20 years is reached).
The gene for DMD is sex linked and found on the X chromosome. The allele for DMD
codes for an enzyme that induces the replacement of muscle by fibre.
NOTE:
Y chromosomes are very short and do not carry many genes. In humans, there are very
few examples of Y-linked inheritance but abit disputed. However one cited example of
Y-linked inheritance in human is the “porcupine men”. These men had thick, spiny,
and dark skin. It was believed that the genes for the porcupine men are carried on Y
chromosomes, although some authors have disputed this fact in that, the condition is
probably due to a dominant gene carried on an autosomal chromosome.
A nother example of genes linked to Y chromosomes are those controlling hairy ear
rims in humans.
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PEDIGREE.
This is a chart of the ancestral history of a group of related individuals showing
inheritance of sex linked characters such as haemophilia or other characters.
(c) Explain using appropriate genetic symbols why interbreeding between Edward VII
and Descendant Victoria will be recommended.
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GENETIC CROSSES ILLUSTRATING INHERITANCE OF HAEMOPHILIA FROM
QUEEN VICTORIA.
b) What phenotypes would be expected in the F2 generation when F1, flies inter breed?
Show clearly all your working from (a).
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SOLUTION.
(b)
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EXERCISE
1. (a) Explain why,
(i) colour blinded is more common in males than females in a population.
(ii) Frequency of colour blindness is higher than that ofnhaemophilia.
(b) When a carrier marries haemophilic male, what will be the phenotypes of their
children.
2. In drosophila the genes for wing length and for eye colour are sex linked. Normal
wing and red eye are dominant to miniature wing and white eye.
a). In a cross between a miniature wing., red- eyed male and a homozygous normal
wing white- eyed female explain fully the appearance of i). F1 ii). F2 genotypes. Show
your working clearly.
b. Crossing a female from F1 above with a miniature, white eyed male gave,
- Normal wing, white eyed males and females = 35
- Normal wing, red- eyed males and females = 17
- Miniature wing, white eyed male and females = 18
- Miniature wing, white eyed males and females = 36.
Account for the appearances and number of the phenotypes shown above.
3. (a) In cats, the genes controlling the coat colours are carried on the X chromosomes
and are codominant. A black-coat female mated with a ginger coat male produced a
litter consisting of black male and tortoiseshell female kittens. What is the expected F 2
phenotypic ratio? Explain the results.
(b) State all the features/characteristics common to all sex linked characters.
4. A red-green colour-blind boy discovered that one of his grandfathers was the last
member of
the family to have the defect. Was it his maternal or paternal grandfather?
5. (a) Explain why sex linked characters are more common among males than their
counter parts the females in a population.
(b) In drosophila the allele for normal wing (N) and red eyes (R) are dominant over
alleles for vestigial wing (n) and white eyes (r) which are recessive. The genes
determining these characters are sex linked. And in drosophila the males are the
heterogametic. What will be the phenotypes of the offsprings in a cross between
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vestigial winged red eyed male with heterozygous normal winged red eyed females.
Assuming reciprocal cross over occurred during meiosis.
6. In cats, short hair is dominant over long hair, the gene involved is autosomal. Another
gene which is sex linked produces yellow coat colour, its other allele produces black
coat colour and the heterozygous combinations produces tortoise shell coat colour.
(a) If a long haired black male is mated with a tortoise shelled female homozygous for
short hair, what kind of offsprings will be produced in the F1.
(b) (i) If the F1 cats are allowed to interbreed freely among themselves, what are the
chances of obtaining long haired females.
(ii) A part from being sex linked, what else can you say about the inheritance of the
gene for coat colour.
7. The figure below shows part of a family tree (pedigree) of a mammal. Several
members have the condition called Albinism in which no melanin pigment is produced in
the body.
(a) The albino condition is controlled by recessive alleles a while the normal pigment
level is controlled by the dominant allele A. The genes controlling albinism are
autosomal and not sex linked but inherited independently.
(i) Determine the phenotypes of the males and female offsprings in the generation II
after mating between the two parents in generation I.
(ii) What will be the genotypes of the males and female children in generation III when
individuals 6 and 7 are mated.
Show clearly your working in a (i) and (ii) above.
(b) Sate the possible genotype of person 11 and 12.
(c) Give characteristic features exhibited by an albino individual.
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8. Colour blindness is determined by a recessive allele b while the allele G for green
colour of the pupil of the eye is dominant over the allele that controls the brown colour of
the eye.
(a) Explain why there are more colour blind individuals than the haemophilic ones in a
population.
(b) What will be the phenotype of children when a carrier woman, brown eyed is
mated with a normal man for the disease whose is heterozygous green eyed.
Assuming random and independent assortment. Clearlly show your working.
Sex limited characters include, Lactation in female mammals, facial hair in male
humans. Sex limited genes may be carried on autosomes and affected by levels of
hormones present in the body.
Cross over values demonstrates that genes are arranged linearly along the
chromosomes. It is important to note that the crossover frequency reflects the relative
positions of genes on chromosomes and distances apart between them because the
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further apart linked genes are on the chromosomes, the greater the chances of crossing
over occurring between them, and the greater the crossover frequency.
GENE MAPPING
The major significance of calculating crossover frequency is that it enables geneticists
to produce maps showing the relative positions of genes on chromosomes.
Consider the following crossover values as determined by a series of breeding
experiment involving four genes, P, Q, R and S. The cross over values between the
genes is as follows,
R - P = 14%
R- S = 8%
S - P = 6%
Q - R = 10%
Q – P = 24%
To calculate the sequence and distance a part of the genes, the following procedures
are carried out.
(ii). Insert the positions of the genes with the least COV in the middle of
(iii) Examine the next largest COV which is R - S = 8% insert both possible
(iv). Repeat the procedure for the next largest i.e. Q - R = 10 % this means that the right
hand position of R is incorrect
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(v). Repeat the procedure for the next larges COV for R - P = 14 % .this confirms the left
hand position for gene Q.
(vi) Finally repeat the procedure for the last next larges COV for Q - P = 24 %.
A problem which arises in preparing chromosome maps in that of double cross over,
particularly when considering genes which are widely separately.
For example, A pair of homologous chromatids, one carrying the dominant alleles A, B,
and C and the other carrying the recessive alleles a, b and c and chiasmata are formed
at two points 1 and 2. When the homologous chromosomes separate double crossing
over occurs. This results into sequences of genes which are different, however, the
sequences of the gene loci and the distances between them remain the same.
EXERCISE
A-B = 4%
B-C = 6%
A – C = 10 %
Construct possible chromosome maps representing positions of the genes on the
chromosome.
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2. Consider the following cross over frequencies determined by a series of breeding
experiments between the genes B, F, H, M and V, as
H – M = 48%
H – F = 10%
F – V = 4%
B – M = 21%
H – V = 6%
B – F = 17%
M – F = 38%
Construct an appropriate gene chromosome map using the above cross over
frequencies.
MULTIPLE ALLELE
This is where a phenotypic characteristics of an individuals is controlled by many alleles
occurring at a specific gene locus, however, only two of such alleles may occupy the
same gene loci of homologous chromosomes.
Characteristics controlled by multiple alleles include; eye colour and coat colour in mice
and blood group in humans
Multiple alleles can result in offsprings with characteristics which differ from both
parents.
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Genotype I0I0 belongs to blood group O.
NOTE:
When both allele A and B occur together they show equal dominance with respect to
one another called co-dominance.
The A, B, 0 blood group system Can be inherited in the normal mendelian fashion e.g.
mating between a woman homozygous for blood group A and A man heterozygous for
blood group O will produce offspring with the following blood group types.
Let,
EXERCISE
Qn.1 Explain using appropriate genetic symbols the possible blood groups of children
whose parents are both heterozygous, the father being blood group A and the mother
blood group B.
If these parents have non-identical twins what is the probability that both twins will have
blood group A.
Qn.2. A blue-eyed man marries two wives, both brown eyed. Two children, one brown
eyed, the other blue-eyed are born to the first wife. The second wife bears three
children, all brown eyed.
(a) State the possible genotypes for the (i) man (ii) first and second wives.
(b) State the genotypes for all the children of the first wife. Clearly show your working.
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(c) Give reason(s) for the suggested genotype of the second wife.
Qn.3. A woman whose blood group is O, Rh- marries a group AB, Rh+ man. What are
the possible blood groups of their children? Explain your working.
LETHAL ALLELES
This is a condition where a single gene determines several characteristics that includes
mortality or death of an individual.
EXAMPLES.
In human certain recessive genes may lead to internal adhesion or congestion of the
lungs resulting into death of babies at birth.
Another example of a single recessive gene affects formation of cartilage and produces
congenital deformation leading to fetal and neonatal death.
The effects of a lethal gene are clearly shown by the inheritance of fur colour in mice,
wild mice have grey coloured fur a condition known as agouti. The grey colour is
determined by recessive alleles. Some mice have yellow fur. The yellow colour is
controlled by the dominant alleles. Cross breeding heterozygous yellow mice produces
offsprings in the ratio of 2 heterozygous yellow and 1 agouti fur mice. In this case the
homozygous dominant yellow fur mice die. Examination of the uteri of heterozygous
yellow mice in the above cross revealed dead yellow fetuses.
Let,
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EXERCISE.
(i) When creepers are mated to normal birds they produce creepers and normal
birdswith equal frequency.
(ii) When creepers are mated to creepers they produce two creepers to one
normal.
(iii) Crosses between normal birds produce only normal progeny.
(a) Explain these results using your knowledge of genetics.
(b) Using suitable symbols work out the genotypes and phenotypes of the offsprings
of the first, second and third crosses.
(c) State the genotypes of the parents in the third cross and explain your answer.
2. Manx cats do not have tails. When a manx cat is mated with a normal tailed cat,
approximately half of the offsprings are long tailed and approximately half are manx.
When two manx are mated, the ratio of offsprings is 2 manx to 1 tailed cat.
(i) What does this suggest about the inheritance of the manx condition in cats.
(ii) Show by means of a cross, the inheritance of the manx condition when two
Manx cats are mated.
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