GENETICS
GENETICS
MWAMBOLI (0762460481)
TABLE OF CONTENTS
COMMON TERMS USED IN GENETICS ............................................................................................ 3
MENDEL’S EXPERIMENTS.................................................................................................... 16
PROBABILITY .................................................................................................................. 30
LINKAGE ............................................................................................................................. 53
MUTATION ..........................................................................................................................85
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INTRODUCTION TO GENETICS
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7. HOMOZYGOUS – is a diploid condition in which the alleles at a given locus are
identical example AA or aa
8. HETEROZYGOUS – is a diploid condition in which the alleles at a given locus are
different example Aa
9. DOMINANT ALLELE – is the allele which expresses the appearance of a phenotype
even in the presence of alternative allele example A
10. DOMINANCE – is the condition in which an allele can express itself in both
homozygous and heterozygous forms. example TT and Tt all represent tallness
11. RECESSIVE ALLELE – is the allele which expresses the appearance of a phenotype only
in the presence of another identical allele example a
OR is the allele which do not show its characteristics over the dominant one
12. RECESSIVENESS – is a condition where an allele can only express itself in homozygous
form. Example tt for dwarfism
13. TRAIT – this is the characteristic shown by an organism. Example skin colour, height
14. FIRST FILIAL GENERATION (F1-GENERATION)
-is the generation or offspring produced by crossing the parents
15. SECOND FILIAL GENERATION (F2 –GENERATION)
- Is the generation obtained by crossing F1-generation
16. BACK CROSS – is the cross between the offspring with either of its parents
17. TEST CROSS – is a cross between an individual with unknown genotype and a
homozygous recessive individual
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18. SELFING –is the process of crossing offsprings of the same pair of parents
19. HYBRIDIZATION – is the process of crossing two organisms which differ in some
characteristics
20. HYBRIDS – are the offsprings produced by crossing two individuals with different
contrasting characteristics
21. PURE BREED OR PURELINES - are organisms which on self-cross always produce
offsprings with the same characteristics generation after generation
22. LINKAGE – is the tendency of several genes not to separate from one another
throughout several generations
23. PEDIGREE – is the historical or ancestral record of individual character.
24. HAPLOID (n) – is the tendency of having one set of unpaired chromosomes in the
nucleus
25. DIPLOID (2n) – is the tendency of having two sets of paired homologous chromosomes
in the nucleus
26. MUTATION – is a sudden change in genetic constitution of an organism
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GENETIC/HEREDITARY MATERIALS
These are materials which contain genetic information
Genetic materials includes the Deoxyribonucleic acid (DNA) and Ribonucleic acid
(RNA) which are found within the chromosomes
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i. Phosphate group
This is derived from phosphoric acid and it gives the acidic character of the DNA
ii. Deoxyribose sugar
This is a sugar with five carbons
The pentose sugar lacks one oxygen atom that is why it is called deoxyribose
sugar
iii. Nitrogeneous bases
These are bases containing nitrogen
The DNA contains four nitrogeneous bases which are
Adenine (A)
Guanine (G)
Thymine (T)
Cytosine (C)
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In formation of double helix strand of DNA the nitrogeneous bases combine as
follows
Adenine pairs with thymine by double bond (A=T)
Cytosine pairs with guanine by triple bond (C≡G)
The nitrogeneous bases are held together by hydrogen bond
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Figure 1: Double helix structure of DNA
FUNCTIONS OF DNA
i. It carries all kinds of necessary biological information from one generation to another
ii. It gives rise to RNA through transcription
iii. It controls all metabolic reactions of the cells through RNA
iv. The change in sequence and number of nucleotides produce mutations
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DNA REPLICATION
This is the process in which the exactly copies of DNA molecule are formed
i. Phosphate group
- This is also derived from phosphoric acid
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- It gives the acidic character of the RNA
ii. Ribose sugar
- This is a sugar with five carbons and contains the required number of
oxygen atoms
iii. Nitrogeneous bases
- These are bases which contain nitrogen in their structures
- There are four types of nitrogeneous bases found in RNA which are
Adenine (A)
Guanine (G)
Uracil (U)
Cytosine (C)
FUNCTIONS OF RNA
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4 Nitrogeneous bases are cytosine, Nitrogeneous bases are cytosine,
guanine, adenine and thymine guanine, adenine and uracil
5 There is hydrogen bond which hold No hydrogen bonds
together the DNA strands
6 There is only one type of DNA There are two types of RNA which are
mRNA, rRNA and tRNA
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THE CHROMOSOMES
These are thread like structures found in the nucleus of a cell which contains the genetic
materials
They are only visible when a cell is about to divide
Every nucleus of a cell the same species has a constant number of chromosomes
The table below shows the number of chromosomes in some organisms
ORGANISM NUMBER OF CHROMOSOMES
Human being 46
Fruit fly 8
Garden pea 14
Maize 20
Sheep 56
Wheat 14
THE STRUCTURE OF CHROMOSOMES
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Figure 3: Chromosome structure
TYPES OF CHROMOSOMES
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THE PRINCIPLE OF INHERITANCE
Inheritance – is the passage of characteristics(traits) from the parents to the offspring
MENDELIAN INHERITANCE
This is the pattern of inheritance which follow the Mendelian principles
Gregor Johann Mendel who is regarded as the father of genetics is the pioneer of
genetics
He was conducting his work in the garden using garden peas (Pisum sativum)
MENDEL’S EXPERIMENTS
Gregor Mendel chose to work with the garden peas in his garden for his experiments
for the following reasons
i. They are self-pollinating but can be cross pollinated
ii. They mature very fast
iii. They produce many seeds hence many offsprings
iv. They have many contrasting characters like height, textures, colour of flowers,
colour of pods, position of flowers
MENDEL’S PROCEDURES
Mendel crossed pure breed purple-flowered pea plants with pure breed white –
flowered plants
Also he allowed the F1 hybrid to self-fertilize
He also crossed various characters of garden peas as shown below
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Smooth seeds vs wrinkled seeds
Yellow seeds vs green seeds
Tall plant vs short plants
With axial flowers vs terminal flowers
MENDEL’S RESULTS
In regard to flower colour Mendel saw the F1 hybrid plants have purple flowers and not
white flowers
When allowed the F1 hybrids (offsprings) to self-fertilize about ¼ (25%) of the F2 plants
had white flowers while ¾ (75%) had purple flowers
The results on other crosses are summarized in the table of results below
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MENDEL’S RESULTS INTERPRETATION
The factor for white flowers did not disappear in the F1 plants instead only the purple
flowers factor was affecting F1 flower colour
Mendel reasoned that the F1 plants must have carried two factors (particles) for the
flower colour character, one for purple and the other for white
Mendel’s factors are now called GENES
NB: the results for other Mendel’s experiments are shown in the table below
Ratio of f2-
Traits crossed F1-generation F2-generation generation
Tall x short All tall 787tall, 277short 3tall:1short
Axial x terminal All axial 651axial, 3axial:1terminal
flowers 207terminal
Round/smooth x All round 5474smooth, 1850 3 smooth: 1
wrinkled seeds wrinkled wrinkled
Green x yellow pods All green 428green, 152yellow 3green: 1 yellow
MENDELIAN ASSUMPTIONS
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Assume T represents a factor for tallness and t represent a factor for shortness
Assume that one factor is contributed by the egg (ovum) and the other one by
the sperm or pollen
Assume that T dominates t so that when the two are together only T is expressed
Assume each parent contain a pair of identical allele ie TT and tt
The Mendelian experiments can be summarized by the crosses below
Then Mendel crossed F1 generation themselves in order to get F2 generation and then
obtained the following results
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Hence TT- homozygous tall
Tt – heterozygous tall
tt - Homozygous short
F2-genotypes = 1 homozygous tall (1TT)
= 2 heterozygous tall (2Tt)
= 1 homozygous recessive short (1tt)
Therefore genotypic ration = 1TT:2Tt:1tt
F2-phenotypes = 3tall and 1short
F2-phenotypic ration = 3tall:1short
The cross between plants whose seeds are round and plants whose seeds are wrinkled. The
results will be as follows
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Phenotypes = 3round and 1 wrinkled
EXAMPLE
Two heterozygous plant heights were pollinated (crossed) to produce the F1-individuals. Show
how the individuals were obtained
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Solution
i. BY MENDELIAN CROSSES
Genotypic ratio=1TT:2Tt:1tt
T t
T TT Tt
t Tt tt
Phenotypic ration= 3Tall:1Short
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Genotypic ration= 1TT:2Tt:1tt
COMPLETE DOMINANCE
This is a condition in which a dominant gene completely masks the recessive gene to
express the phenotype
The dominant gene therefore expresses itself in both homozygous and the heterozygous
state
Most of the characters explained by Mendel showed complete dominance
MONOHYBRID CROSSES
These are crosses which involves single pair of contrasting trait
Example height which can be either tall or short
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Example 1
Fur colour in mice is determined by two alleles. The allele for black fur is dominant over the
allele for brown fur. A homozygous black mouse was crossed with a homozygous brown
mouse.
Possible genotypes
BB – Homozygous dominant black fur
Bb – Heterozygous black fur
bb- Homozygous recessive brown fur
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F1-Genotypes = all are heterozygous black fur mice (Bb)
F1-phenotypes = all are black fur mice
ii. Required to find the genotypes, phenotypes, genotypic ratio and phenotypic ratio of the
F2-generation
TEST CROSS
This is the ration obtained after a cross between heterozygous individual and
homozygous recessive individual
The ratio is usually 1:1
Example
A cross between heterozygous tall plant (Tt) and homozygous recessive short plant (tt)
Solution
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BACK CROSS
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BACK CROSSING
PROBABILITY
This is the study of the operation of the law of chance
Chance refers to the likelihood of a certain event happening
Probability is usually expressed by means of fractions or percentages
Formula calculating probability
𝑁𝑈𝑀𝐵𝐸𝑅 𝑂𝐹 𝐶𝐻𝐴𝑁𝐶𝐸𝑆 𝐹𝑂𝑅 𝐴𝑁 𝐸𝑉𝐸𝑁𝑇(𝐸)
PROBABILITY (P) =
𝑁𝑈𝑀𝐵𝐸𝑅 𝑂𝐹 𝐴𝐿𝐿 𝑃𝑂𝑆𝑆𝐼𝐵𝐿𝐸 𝐸𝑉𝐸𝑁𝑇𝑆 (𝑇)
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Example when a coin is tossed one of two possible events can occur. It can occur either a
head or tail. The probability of obtaining a tail can be ½. this means there is one chance
out of two possibilities that tails will come up
There are two important principles of probability which are useful when studying genetics
as follow
1. The rule of independent events
(The previous events do not affect the probability of the later occurrences of
the same event)
2. The product rule
(The probability of independent events occurring together is equal to the
product of the probabilities of the events occurring separately)
P(A) and P(B) = P(A) X P(B)
Example if you toss a 20 shillings coin and a 5 shilling coin together, what
are the chances of both coins coming up tails?
Probability of tails = ½ x ½ = ¼
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From meiosis each gamete has 1 in 2 chances of receiving one of the t allele likewise
each gamete has 1 in 2 chances of receiving one of the T alleles
Therefore the probability of each gene coming together in fertilization is calculated by
product rule
The probability of TT = ½T X ½T = ¼TT
The probability of 2Tt = 2(½T X ½t) = ½Tt
The probability of tt = ½t X ½t = ¼tt
Genotypic ratio = ¼TT: ½Tt: ¼tt = 1TT: 2Tt:1tt
Phenotypic ratio = ¾tall: ¼short = 3tall: 1short
3 𝑡𝑎𝑙𝑙 𝑝𝑙𝑎𝑛𝑡𝑠
The probability of producing tall plants = x 100% = 75%
4 𝑎𝑙𝑙 𝑝𝑙𝑎𝑛𝑡𝑠
1 𝑠ℎ𝑜𝑟𝑡 𝑝𝑙𝑎𝑛𝑡
The probability of producing short plant = 𝑥 100% = 25%
4 𝑎𝑙𝑙 𝑝𝑙𝑎𝑛𝑡𝑠
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THE PATTERNS OF INHERITANCE THAT FOLLOW MENDELIAN FIRST LAW OF
INHERITANCE
The following are the patterns of inheritance that follow Mendelian laws
i. Albinism
ii. Tongue rolling
iii. Haemophilia
iv. Sickle cell anaemia
v. Colour blindness
i. ALBINISM
This is the hereditary condition which is characterised by lack of melanin pigment in
the skin, hair and eyes
Albinism is not confined to human only but other animals
Albinism in plants is characterised by lack chlorophyll
An ALBINO is an organism which lack melanin pigment
Albinism is controlled by a recessive allele where by homozygous individuals for this
gene are albino while heterozygous are normal
TYPES OF ALBINISM
a) Ocular albinism(OA)
This is the type of albinism which affects the eyes only while the hairs and
skin are normal
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b) Oculocutaneous albinism
This is the type of albinism which affects the eyes, skin and hairs
Possible genotypes
An albino male marries a heterozygous female. If the female has six children, what will
be their probable genotypic and phenotypic ratio?
Solution
Let A – allele for normal skin
a- Allele for albinism
Genotypes
Male with albinism = aa
Heterozygous female = Aa
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Genotypic ratio = ½Aa: ½aa = 1Aa:1aa
Example 2
A couple with normal skin pigmentation marry and produce six children. Out of six children,
four have normal skin pigmentation and two are albino. What are the genotypes of the
parents?
Solution
Possible genotypes
AA = Homozygous normal
Aa = Heterozygous normal
aa- albinism
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For normal parents to produce four children with normal skin and two
children with albinism, the parent might be the carrier for albinism because
the gene for normal skin is recessive
The albino children (aa) each have inherited one a allele from each parent
showing that the parents were heterozygous normal
Consider the cross below
Therefore the genotypes of the parents are Aa for both male and female
Example 1
What will be the results of the offsprings if the heterozygous tongue roller is crossed with non-
tongue roller?
Possible genotypes
rr - non-tongue roller
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Phenotype = 2 tongue rollers and 2 non-tongue rollers
Genotypes = Rr and rr
iii. HAEMOPHILIA
This is the hereditary trait which is characterised by delayed blood clotting causing
prolonged bleeding
It is also characterised by a tendency to bleed in the skin, muscles and joints
Haemophiliac females rarely live beyond puberty because of the excessive bleeding
during menstrual period
It is controlled by a recessive allele. Homozygous recessive individuals are haemophilic,
heterozygous individuals are normal but carriers of the trait
The incidence of hemophilic can be reduced by avoiding marriage between
heterozygous females and haemophilic males
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iv. COLOUR BLINDNESS
This is the hereditary condition characterized by inability to distinguish between
certain colour of spectrum
The commonest form of colour blindness is the inability to distinguish red from green
Colour blindness is controlled by recessive allele. Homozygous recessive individuals are
colour blind while heterozygous have normal vision
v. SICKLE –CELL ANAEMIA
This is a genetic disorder which make the red blood cells assume a sickle shape under
certain conditions
People with sickle cell anaemia are homozygous recessive hence the incidence of sickle
cell anaemia can be reduced by avoiding marriages between closely related individuals
The red blood cell become sickled under the following conditions
When a person is affected by diseases like malaria
When the oxygen concentration in the atmosphere is very low
The sickle shape of red blood cells their ability to carry oxygen is reduced and cause
anaemia
Also sickle cell shape prevents the normal flow of blood in small blood vessels causing
swelling and bursting
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NON- MENDELIAN INHERITANCE
This is the pattern of inheritance which does not follow the Mendelian law
The non – Mendelian inheritance are
Co-dominance
Incomplete dominance
Sex linkage
Lethal inheritance
Epistasis
i. CO-DOMINANCE
This a form inheritance in which both alleles produce equal phenotypic expression
This occurs in heterozygous condition where each allele express the appearance of a
phenotypes
Examples of co-dominance
(a) The allele for blood group A and allele for blood group B
(b) Brown hair colour in horse and white hair colour in horse
(c) Inheritance of flower colour in plants
Example
When a horse with brown coloured fur is crossed with white coloured fur the following will be
the results
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Let B – allele for brown hairs
Possible genotypes
WW –white hairs
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W - allele for white flower
Possible genotypes
RR – red flowers
RW – pink flowers
WW – white flowers
When the F1-generation are self-crossed the following results will be obtained
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Genotypes = RR, RW and WW
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These three alleles are responsible for the presence of antigen types on the red blood
cells
Allele A is responsible for the presence of antigen A
Allele B is responsible for the presence of antigen B
Allele O is responsible for no (zero) antigen on red blood cells
Blood types follow both co-dominance and simple dominance
The allele A and allele B are co-dominant to each other
The allele A and allele B are both dominant over the allele O
The possible genotypes
Blood group Genotype
A AA or AO
B BB or BO
AB AB
O OO
Example 1
What will be the phenotypes of the children whose parents are blood group AB and O?
Solution
Genotypes = AB and O
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Genotypes = AO and BO
Example 2
A woman of blood group A claims that a man of blood group AB is the father of her child. A
blood group test reveals that the child’s blood group is O. Is it possible that the woman’s claim
is correct?
Solution
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CASE II: a cross between AO and AB
From the above crosses there is no offspring who has blood group O
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INHERITANCE OF RHESUS FACTOR
In human population, individuals either have or lack the gene for rhesus factor
Those individuals who have the gene for rhesus factor are said to be rhesus positive
(Rh+)
The individuals who lack the gene are said to be rhesus negative (Rh-)
The rhesus factor is caused by a dominant gene
The rhesus positive(Rh+) is dominant over rhesus negative (Rh-)
The possible genotypes are as follows
The allele for rhesus positive = R
The allele for rhesus negative = r
RR – Rhesus factor positive
Rr – Rhesus factor positive
rr – Rhesus factor negative
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Key (√) – No agglutination
X – Agglutination occurs
Example
What will be the results of the offsprings is a man with homozygous rhesus factors positive
marries a woman with Rhesus factor negative?
Solution
Possible genotypes
(Rh-) - rr
(Rh+) – RR
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Therefor All children will be with Rhesus factor positive
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SEX DETERMINATION
This is the process of determining whether an individual to be born is a male or female
The sex of an individual is determined by sex chromosomes carrying sex genes
There are two types of chromosomes which determine the sex of an individual which
are X and Y chromosomes
The two sex chromosomes is females are similar in shape and size and said to be
homogametic (XX)
The two set of chromosomes in males are different in shape and size and are said to be
heterogametic (XY)
MECHANISM OF SEX DETERMINATION IN HUMAN BEING
The male produce two types of sperms, half of them containing 22 autosomes and Y
chromosomes (22 + Y) while the other half containing 22 autosomes and X
chromosomes (22 + X)
A female produces one type of eggs all containing 22 autosomes and X chromosomes
(22 + X)
During fertilization, one sperm fuses with egg to form a zygote
If the sperm carrying a Y – chromosome fuses with the egg, the zygote formed will have
44 autosomes and XY chromosomes that will develop into a boy
If the sperm carrying X-chromosomes fuses with the egg, the zygote formed will have
44 autosomes and XX chromosomes that will develop into a girl child
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Therefore it is the sperm that fuses with the egg that determines the sex of the baby
born
The possibility of getting a boy or a girl child is 50%
Consider the cross below
Possible genotypes
FEMALE = XX
MALE = XY
The cross above shows that there is equal possibility of producing male and female child
SEX CHROMOSOMES IN OTHER ORGANISMS
Organism Males Females
Drosophila XY XX
Birds, butterfly, moths, reptiles, fish XX XY
Round worms XO XX
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Example 1 (NECTA 1997)
The number of chromosomes in a fertilized egg in a woman that will grow into a male child is
D. 22 + XY
LINKAGE
This is a condition in which two different genes are located on the same chromosome
The linked genes will segregate together as the chromosome move into a gamete
SEX – LINKED GENES
These are genes which are located on sex chromosomes
Most sex – linked genes are carried on X- chromosomes while the Y-chromosomes
carries few genes
SEX –LINKED TRAITS (CHARACTERS)
These are traits controlled by genes which are located on sex chromosomes
Example haemophilia and colour blindness
SEX- LINKED CHARACTERS IN HUMAN BEING
i. COLOUR BLINDNESS
This is the hereditary condition characterized by inability to distinguish between
certain colour of spectrum
The commonest form of colour blindness is the inability to distinguish red from green
Colour blindness is controlled by recessive gene located on X-chromosome.
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Homozygous recessive individuals are colour blind while heterozygous have normal
vision
The effect of these genes is that they cause malfunctioning of cones in the retina
NB:
More males are affected by colour blindness than females because the males need only one allele
to be affected while the females need two alleles to be affected
Example 1
What will be the results of the offsprings if a colour blind man marries a normal woman?
Solution
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Two daughters will be normal but carriers (XBXb) while the sons will be normal (XBY)
Example 2
A woman is colour blinded. What are the chances that the sons will be colour blind when she
marries a normal man?
Solution
Possible genotypes
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Genotypes = XBXb and XbY
ii. HAEMOPHILA
This is the hereditary condition characterised by inability of blood to clot after injury
Haemophilia also called the BREEDER’S DISEASE
Individuals with haemophilia are in danger of bleeding excessively even from minor
injury
It is caused by recessive gene located on X- chromosome
The gene for normal is represented by the letter H and for haemophilia is represented
by the letter h
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Possible genotypes for haemophilia
XHXH = normal female
XHXh = normal but carrier female
XhXh = haemophilic female
XHY = normal male
XhY = haemophilic male
NB:
Haemophilic females are rare in cases than haemophilic males because of the following
Many haemophilic females do not survive beyond the first menstrual cycle
In order for a female to be haemophilic she needs to have two haemophilic genes
Example 1
If a normal man marries a haemophilic woman. What will be the results of the offsprings
produced?
Solution
Genotypes
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Results
Example 2
What will be the genotypes and phenotypes of the offsprings produced when a normal carrier
female marries a normal man?
Solution
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Results
Phenotypes = 1 normal female, 1 carrier female, 1normal man and 1 haemophilic male
These are characters or traits which are more conspicuous (expressed) in one sex
than the other OR
These are traits are determined by autosomal genes that are expressed differently
in males and females
Examples of sex influenced characters
Long mane (hairs) in male lion
Big comb in cockerels
Long horns of goats and cow
Breast in females
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SEX - LIMITED CHARACTERS
These are characters (traits) which are restricted(found) to only one sex
Examples of sex limited characters are
Beards in males
Baldness in males
Hairy pinna in males
Antlers in antelopes
Assume that the trait for cataracts in the eye is recessive to the gene for normal eyes. A man
with cataracts marries a normal eyed woman. If each had a mother with cataracts. What are
the chances of their child having cataracts in the eye?
Solution
Possible genotypes
cc= cataracts
Because both had their mothers with cataract, the woman will be heterozygous normal (Cc)
due to the fact that she inherited one gene of cataract from her mother
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Genotypes = Cc and cc
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Suffer from the disease
Do not suffer from the disease
Solution
The genotypes for who do not suffer from the disease = AA and Aa
ii. If homozygous normal male marries a woman suffering from the disease. Write
down the ratio of the children suffering : children not suffering in the F2-
generation
Solution
Genotypes
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F1 generation are all heterozygous normal
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ANSWER
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5 There is hydrogen bond which hold No hydrogen bonds
together the DNA strands
6 There is only one type of DNA There are two types of RNA which are
mRNA, rRNA and tRNA
(b) Colour blindness is a sex linked character controlled by a recessive gene located on
X-chromosome. Only homozygous females suffer from this condition. It is more
common to males. What percentage will the males suffering from colour blindness
be if a normal male marries a colour blind female?
Solution
Let C = allele for normal vision c = allele for colour blindness
Possible genotypes
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Males suffering from colour blindness = 2
a) What is variation?
b) Differentiate continuous from discontinuous variation
c) In an experiment, a variety of garden peas having smooth seed coat was crossed with
a variety of seeds having wrinkled seed coat, all the F1 generation had smooth seed
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coat. When the F1 generation were self-crossed, the total number of F2-generation was
7324
(i) Using appropriate letter symbols, work out the genotypes of the F1
generation
(ii) From the information above, write the total number of wrinkled seeds in
the F2 generation
Solution
For (a) and (b) refer your notes
(c) (i) Required to find the genotypes of F1 generation
Let S – allele for smooth seeds
s- allele for wrinkled seeds
Possible genotypes
SS- Homozygous smooth seeds
Ss- Heterozygous smooth seeds
ss- Wrinkled seeds
For a cross between smooth seeds and wrinkled seeds to produce the smooth
seeds in the F1 generation means that the parents were homozygous dominant
(SS) and homozygous recessive (ss). Consider the cross below
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Phenotypes = all smooth seeds
Therefore the genotypes of F1 – Generation = all are heterozygous smooth
seeds (Ss)
(ii) Required to calculate the total number of wrinkled seeds in the F2 generation
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From the phenotypic ratio
The number of wrinkled seeds
𝑁𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑤𝑟𝑖𝑛𝑘𝑙𝑒𝑑 𝑠𝑒𝑒𝑑𝑠 𝑐ℎ𝑎𝑛𝑐𝑒𝑠
= x Total number of seeds produced
𝑇𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑠𝑒𝑒𝑑 𝑐ℎ𝑎𝑛𝑐𝑒𝑠
1/4 1
= x 7324 = x 7324= 1831
4/4 4
bc bC
Bc 1 2
bC 3 4
Solution
Example 5
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i: Bb ii: BB iii: bb
Solution
Katundu is an ex-form four fellow and he is of blood group B heterozygous. Haambiliki whi
was to finish form four this year is blood group A heterozygous, she has a son Kaajali of
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blood group O whose she claims that Katundu is the father. Katundu who used to abscond
from biology class and knows no genetics has refuted the parentage. Give an outline of the
information that will help katundu realize that he is the legitimate father of kaajali
Example 6
In the plant Rosa alba, a pure breed white flowered plant was crossed to a pure breed red
flowered plant. All F1-plants had pink flowers. When the pink flowered plants were selfed,
the offsprings in F2 generation had 102 plants with red flowers, 207 plants with pink flowers
and 101 plants with white flowers
Possible genotypes
RR – red flowers
RW – pink flowers
WW – white flowers
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Genotypes = all are RW
Phenotypes = 1 red flowered plant, 2 pink flowered plants and 1 white flowered plants
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102 red flowered plant : 207 pink flowered plant : 101 white flowered plants
b) The pink flowered plants were produced because the allele for red flowers and the allele
for white flowers showed incomplete dominance because they failed to dominate each
other and produced an intermediate phenotype (pink flowers)
STUDY QUESTIONS
1. Anna is a woman married to John. This couple once had a child called Kitto who
one day discovered that his parents were in bad terms. John is claiming that kitto is
an illegitimate child but Anna is opposing the case. Blood group tests reveals that
John is of blood group A and kitto is blood group O. Anna’s mother is blood type B
and anna’s father is blood group AB. By using these information only
a) Suggest the possible genotypes for Anna, show how you deduce the genotypes
b) Tell whether kitto is or not a legitimate child of the family
2. State two advantages of hybrid vigour
3. In a family with four children, three were found to have normal skin pigmentation
while one was an albino. Using letter A to represent gene for normal skin
pigmentation and a to represent the gene for albinism,
(a) What are the genotypes of the parents?
(b) Work out the genotype of
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(i) Normal pigmentation
(ii) The albino child
(c) Genotype of normal pigmented children
(d) What is the probability that the fifth child will be an albino?
4. An investigation plants with red flowers were crossed with plants with white flowers.
All the plants in the F1 generation had pink flowers.
a) Give a reason for the appearance of pink flowers in the F1 generation.
b) If the plants the F1 generation were selfed, state the phenotypic ratio of the F2
generation
5. The chart below represents the result of successive crosses, staring with red-
flowered plants and white flowed plants and in which both plants are pure
breeding.
Parental genotypes: Red flowers x white flowers
Selfed
Second final generation
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(a) What were parental genotype? Use letter R to represent the gene for red colour
and r for white colour
(b) (i) What was the colour of the flowers in the first filial generation?
(ii) Give a reason for your answer in b (i) above
(c) If 480 red flowered plants were obtained in the second filial generation, how
many F2 plants and white flowers? Show your working.
6. The chart below shows the number of chromosomes before and after cell division
and fertilization in a mammal.
d) Name the process that leads to addition or loss of one or more chromosomes.
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7. In mice the allele for black fur is dominant to the allele for brown fur. What
percentage offsprings would have brown fur from a cross between heterozygous
black mice and brown mice? Show your working. Use letter B to represent the allele
for black colour
8. (a) What is meant by the term allele?
(b) Explain how the following occur during gene mutation:
(i) Deletion (1 mark)
(ii) Inversion (1 mark)
(c) What is a test- cross?
9. In maize the gene for purple colour is dominant to the gene for white colour. A pure
breeding maize plant with purple grains was crossed with a heterozygous plant.
(a) (i) Using letter G to represent the gene for purple colour, work out the
genotype ratio of the offspring
(ii) State the phenotype of the offspring
(b) What is genetic engineering?
(c) What is meant by hybrid vigour?
10. A pea plant with round seeds was crossed with a pea plant that had Wrinkled seeds
the gene for round seeds is dominant over that for wrinkled seeds. Using letter R to
represent the dominant gene state:
(a) The genotype of parents if plant with round seed was heterozygous
(b) The gametes produced by the round and wrinkled seed parents
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(c) The genotype and phenotype of F1 generation. Show your working
11. In humans, hairly ears is controlled by a gene on the Y Chromosomes.
(a) Using letter YH to represents the chromosome carrying the gene for hairly ears,
work out a cross between a hairy eared man and his wife.
(b) (i) What is the probability of the girls having hairly ears?
(ii)Give reason for your answer in (b (i) above.
(c) Name two disorders in humans that are determined by sex linked genes
12. When pure breeding black guinea pigs were crossed with pure breeding white
guinea pigs, the offspring had a coat with black and white patches
a) Using letter G to represent the gene for black coat colour and letter H for
white coat colour, work out the genotypic ratio of F2
b) State the phenotypic ratio of F2
c) (i) Name the term used when two alleles in heterozygous state are fully
expressed phenotypically in an organism
d) Give an example of a trait in human beings where the condition whose term
is named in (c) (i) above express itself
13. A bean plant can bear either terminal or axial flowers. When a terminal flowered
plant (T) is pollinated with an axial flowered plant (t), the offsprings produced were
200 terminal flowered and 210 axial flowered. Identify the genotypes of the parents
14. (a) Who is an albino?
(b) Explain the problems faced by albinos under the following guidelines
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i. Vision
ii. Exposure to light
(c) Give the genotypes of the offspring produced when an albino male marries a
female who is heterozygous to albinism
15.(a)Explain the following Mendelian traits and their effect to human being
i. Haemophilia
ii. Sickle cell anaemia
(b) In a certain species, two homozygous individuals mated and the resulting offsprings in
the F1 generation was heterozygous with the same phenotype. However in the second filial
generation a new heterozygous phenotype was obtained which looked different from the
parent in F1. With the help of genetic diagrams explain how individuals with different
phenotype in F2 generation were obtained
DIHYBRID INHERITANCE
This is the inheritance of two characters controlled by different genes
DIHYBRID CROSS – This is the cross which involves two characters at a time
Mendel did a dihybrid cross by crossing pure breeds of tall plants with purple flowers
and dwarf plants with white flowers
Example 1
Mendel crossed a true breeding plant grown from round yellow seeds (RRYY) with a true
breeding plant grown from a wrinkled seeds (rryy) as follows
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F1 generation are all round yellow
RY rY Ry ry
RY RRYY RrYY RRYy RrYy
Ry RRYy RrYy RRyy Rryy
ry RrYy rrYy Rryy rryy
rY RrYY rrYY RrYy rrYy
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From the above cross
Round yellow = 9
Round green = 3
Wrinkled yellow = 3
Wrinkled green = 1
From the above cross Mendel established the second law of inheritance
It states that
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VARIATION AMONG ORGANISMS
Variation is the possession of characteristics that are different among members of the
same species
Organisms in the same species have the same number of chromosomes and genes in their
nucleus of somatic cells and have the characteristics that are alike
However, the combination of these chromosomes into pair is different among organisms
resulting into variation
TYPES OF VARIATION
1. CONTINOUS VARIATION
It is also called quantitative variation
This is the type of variation which has unbroken range of phenotypes OR
Is the variation which show intermediate forms between the two extremes, that means
there is no clear cut distinction between the extremes
Continuous variation are more common in population than discontinuous variations
Example height, mass, volume, length, intelligence quotient (IQ), skin colour, hair
colour and leaf size in plants
2. DISCONTINOUS VARIATION
This is the type of variation which shows an intermediate forms, that is there is a clear
- cut distinction from on another OR
Is the type of variation in which individuals show clear cut differences with no
intermediates
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Example sex, blood group, albinism, tongue rolling, finger prints, rhesus factor and
ear lobe
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Species are not uniformly distributed but occurs in small isolated population hence
resulting into different gene pool of organisms of the same species
TYPES OF CHARACTERS
i. Acquired characters
These are traits or characters which an individual develops as a result of
adaptation to the environment
Example body weight and walking style
ii. Inherited(heritable) characters
These are characteristics that are passed on from the parents to the
offsprings through sexual reproduction
MUTATION
Is an unpredicted change in the genes or chromosomes of an organism OR
Is a sudden change in genetic constitution of an organism
CAUSES OF MUTATION
There are various factors that cause mutation which are called mutagens
MUTAGENS (MUTAGENIC AGENTS)
These are factors that cause mutation
An individual affected by mutation is called mutant
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TYPES OF MUTAGENS
i. Physical mutagens
This involves the following
Temperature
High energy radiations like x-rays, gamma rays, alpha particles and cosmic rays
Non – ionizing radiations like UV- rays
ii. Chemical mutagens
This involves the following
Acids like nitrous acids
Alkylating agents like nitrogen mustards
Heavy metals like mercury
CAUSES OF MUTATION
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TYPES OF MUTATIONS
There are two types of mutations which are chromosomal mutation and gene mutation
i. CHROMOSOMAL MUTATION
This is a type of mutation which is caused by the change in structure and number of
chromosomes
Example Down’s syndrome and polyploidy
ii. GENE OR POINT MUTATION
This is the types of mutation which occurs as a result of a change in gene sequence in a
nucleotide of a DNA
The gene in which mutation occurs is called MUTANT GENE
Example sickle cell anaemia, albinism and haemophilia are resulted from gene
mutation
FORMS OF GENE MUTATION
i. Deletion – this occurs when a segment of nucleotide is removed/missing from a
segment of a DNA
ii. Insertion – this occurs when one or more nucleotide are added in a DNA
segment
iii. Inversion –this occurs when one or more nucleotide is reversed
iv. Substitution – this occurs when one segment of a DNA is replaced by the other
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v. Duplication – this occurs when a nucleotide of a DNA sequence is replicated
SIGNIFICANCE/IMPORTANCE OF MUTATION
Most mutations are useful in production of hornless cattle
They are sources of variation in a population
Spontaneous mutation can result into drug resistance. Example bacteria may be
resistant to penicillin
Mutation can be induced at a desired region to create an appropriate mutant
especially to produce vaccines
DISADVANTAGES OF MUTATION
Most mutations results into genetic disorders like albinism and sickle-cell anaemia
Mutation can lead to decrease in ability of organism to resist infections
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GENETIC DISORDERS
These are inherited abnormalities resulted from problems within the genes or
chromosomes
These disorders are inherited from one generation to another
EXAMPLES OF GENETIC DISORDERS
i. DOWN’S SYNDROME (MONGOLISM)
It is also called trisomy 21
This is the genetic disorder in which there are three copies of chromosomes
number 21 instead of normal two
Therefore a person with Down’s syndrome has 47 chromosomes in his/her
body cells
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EFFECTS OF DOWN’S SYNDROME
People with Down’s syndrome are at a high risk of getting diseases like heart diseases
They also may suffer from discrimination in the societies
NB: children of old parents for example a mother with 40 years of age and a father
above 55 years increase a chance of getting this disease
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ii. KLINEFELTER’S SYNDROME
This is a genetic disorder resulted from a failure of X– chromosome to separate during
meiosis
An individual with this condition has two X- chromosomes and Y chromosome (XXY)
SYMPTOMS
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SYMPTOMS OF TURNER’S SYNDROME
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iv. SICKLE CELL ANAEMIA
This is a genetic disorder caused by gene mutation where by the normal haemoglobin
are replaced by abnormal haemoglobin
In sickle cell condition one amino acid (the glutamic acid) is replaced by another amino
acid (the valine) forming the haemoglobin S denoted as HBS
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When the oxygen concentration is low causes the red blood cells to assume a sickle or
crescent shape
The sickle shape of red blood cells affects the oxygen transportation
Possible genotypes
HbAHbA – homozygous normal blood
HbAHbS – Heterozygous normal blood (sickle cell trait)
HbSHbS – Sickle cell anaemia
Example
A cross between heterozygous normal woman with a heterozygous normal man. What will be
the results of the offsprings?
Genotypes
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Both parents = HbAHbS
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APPLICATION OF GENETICS IN DAILY LIFE
1. GENETICS IS APPLIED IN PLANT AND ANIMAL BREEDING
This involves the cross of different or similar species of plants and animals in order to
obtain the desirable characteristics from offsprings through selective breeding
SELECTIVE BREEDING
This is the process of crossing organisms in order to produce offsprings with the
desirable characteristics
TYPES OF SELECTIVE BREEDING
i. Inbreeding
This is the process of crossing closely related individuals to maintain the desired
characters
Example most domesticated animals and plants
The advantage of inbreeding is that it maintain the genetic materials of an individual
and characters become similar to those of the parents
The disadvantage is that it leads to weak and weak generation and the inheritable
diseases are easily passed to the offsprings
ii. Outbreeding
This is the process of crossing distant related individuals
Outbreeding does not only produce offsprings with modified characters but also
decreases the chance of getting undesirable features from generation to
generation
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The offsprings produced after out breeding is called HYBRID
HYBRID VIGOUR
This is the superiority reached in offspring having the desirable traits of both
parents
Example a hybrid produced by outbreeding is a variety of cattle called zebu which
is produced after a cross of Heifer bull and Boron bull
2. BLOOD TRANSFUSSION
This is the transfer of blood from one person called the donor to the blood stream
of another person called the recipient
Before blood transfusion blood is tested to determine the blood group and the
rhesus factor
If the blood of the donor is not compatible with the blood of the recipient
agglutination occurs
Also the ABO blood group system and the rhesus factor are used to settle
parentage disputes
3. GENETIC COUNSELLING
Genetic information are used to advise couples who have hereditary disorders
about the chances of the children inheriting the disorders like haemophilia and
albinism
Genetic information could also be used in choosing marriage partners
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4. GENETIC ENGINEERING
This is alteration of an organism’s genetic/hereditary materials to reduce
undesirable characteristics to produce new desirable characteristics
The study of genetic engineering is called BIOTECHNOLOGY
i. It is applied in agriculture
Agricultural plants are one of the most frequently cited example of GMO
(Genetically modified organisms)
In plants the genes are modified to increase crop yields, reduced price of food or
drug production and to increase disease resistance
ii. In tissue transplantation
Human organs such as liver, spleen and others can be produced through genetic
engineering
iii. In human gene therapy
Normal genes can be introduced into the embryo to cure a genetic disorders such
as sickle cell anaemia
iv. Industrial application
Microorganisms have been engineered to manufacture a wide variety of proteins
in the body such as fibrinogen needed by the people suffering from haemophilia
Production of genetically modified organisms which are used to produce strains
that can decompose wastes from homes and industries
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Pure insulin can be produced in large quantity by transferring a gene that codes
for insulin production in humans to the Escherichia coli bacteria
v. In medicines
Vaccines can be produced from genetic materials of viruses
Human growth hormones, somatotropin hormones can be extracted from
pituitary gland of a dead bodies
vi. Biological warfare
Microorganisms that cause diseases have been used in wars
The microorganisms are cloned and thrown into the territory of the enemy
Example the bacteria Bacillus anthrax which causes anthrax in cattle, goats and
sheep which may cause death in 3 days
Other examples are Vibrio cholera, Salmonella typhi and Clostridium tetani
NB:
CLONING (GENE CLONING)
The term cloning means making exact multiple copies of DNA or a cell or an
organism.
For example when a single bacterium reproduces asexually on a petri dish, a colony of
cells results. Each member of the colony is a clone of the original cell.
Through biotechnology, bacteria now produce cloned copies of human DNA.
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DISADVANTAGES OF GENETIC ENGINEERING/BIOTECHNOLOGY
i. The process of genetic engineering such as selective breeding needs a lot of skills,
knowledge and time to get the strains of the desirable qualities
ii. Since genetic engineering involves changing the genetic makeup of an individual, it
may lead into unpredictable changes
iii. Some people may feel that their natural human beings status is abused
iv. Some practice of genetic engineering may not be in line with ethical and moral values
of human being especially religious beliefs
EXERCISE
1. (a) State Mendel’s first law of inheritance
(b) Children have several feature resembling their parents. Explain the processes by
which particular traits are passed from the parents to the offsprings
2. 400 rose plant with red petals were crossed with the same plant species having red petals
with some white spots. The first filial generation had the following phenotypic
proportion 290 plants with red petals: 110 plants with red petals with some white spots
i. Using properly defined genetic symbols, show all the crosses that lead to the
formation of the above plants and write a simplified ratio for the plant
ii. What is the genotypic ratio of the first filial generation?
Mustapha A. J et.al (2008), New essentials of biology book 4, Nyambari Nyangwine publishers
Mwaniki J.M and Geofrey G.G (2013), Fundamentals of biology Form 4 new edition, Long horn
publishers
Oxford (2013), Biology for secondary schools form 4, oxford university press
Taylor D.J et.al (2016), Biological science third edition, Cambridge university press