Genetics: Inheritance Refers To The Process by Which Characters/traits Are Passed From
Genetics: Inheritance Refers To The Process by Which Characters/traits Are Passed From
G
enetics is the scientific study of heredity and variation among
organisms. It is the branch of science that accounts for the
occurrence of similarities and differences among organisms of
the same species; as well as explaining how traits are
transmitted to off springs from their parents.
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DEFNITION OF TERMS USED IN GENETICS
Gene; A gene is the basic unit of inheritance that determines the organisms’
characteristics. All the characteristic features of an organism are defined at
fertilization by the genes inherited from parents but can be greatly modified by
the environment in which the organism lives.
Most of the genes occur in two alternative forms called alleles one of which is
dominant and the other recessive both of which are represented by
alphabetical letters just for study purposes
Consider the gene controlling height in garden peas, the allele T for
tallness is dominant over the allele t for shortness. A plant with
dominant genes (TT) is tall and the one with recessive genes (tt) is short
while a plant with one of each genes (Tt) is also tall
An organism with similar copies of alleles for a given gene is said to have a
homozygous genotype e.g. TT, AA, rr etc. while an organism with different
copies of alleles for a given gene is said to have a heterozygous genotype. E.g.
Tt, Aa, Rr etc.
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Phenotype; Refers to the physical/outward appearance of an organism as
determine by the interaction between its genotype and the environment in
which it lives.
Locus (plural loci). This is the position on the chromosome where the genes are
located.
Pure breeding (true breeding), this is where the individuals being crossed are
homozygous Crossing(X). This refers to the mating of the male and female
organisms under a consideration.
First filial generation (F1); this refers to the set of offsprings obtained from
crossing two pure breeding parents with contrasting characteristics. These
individuals are therefore heterozygous hybrids
Second filial generation (F2); this refers to the set of off springsthat are
obtained from crossing mature F1hybrids.
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Test cross is a cross between an organism with an unknown genotype with a
homozygous recessive organism so as to determine the unknown genotype.
Back cross. This is the mating of an offspring with one of its parent so as to
prove the genotype of the parents.
Reciprocal cross; this is a cross in which the genotypes of the parents have
been reversed
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MENDEL’S GENETIC EXPERIMENTS AND
MONOHYBRID INHERITANCE
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MENDEL’S EXPERIMENTS
I
n one of his experiments, Mendel crossed tall pea plants with dwarf pea
plants. In order to properly manage the cross, Mendel covered the stigma
of all flowers of one group, and removed all the anthers from the flowers of
another group of pea plants in order to prevent self-pollination, and transferred
pollen using a brush. The resultant seeds were planted and he observed that
all the F1off springs were tall.
He then selfed the F1 pea plants to get F2. This generation comprised of a
mixture of tall and short pea plants in a ratio of 3 tall: 1short plants.
NB: The 3:1 ratio is known as Mendel’s monohybrid ratio of the dominant and
recessive characters respectively in the F2 generation.
Observation;
Mendel was able to observe that neither of the F1 nor F2 had intermediate
phenotypes.
Conclusion;
From his conclusions, Mendel was able to formulate his first law of inheritance
which is well known as the law of monohybrid inheritance/law of
segregation/law of particulate inheritance
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Later with advancements in technology and microscopy, internal factors later
came to be known as genes and Mendel’s first law was modified. It can
modernly be stated as follows. “The characteristics of a diploid organism are
controlled by alleles which occur in pairs but singly in gametes”.
Meiosis explains:
Illustration:
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A full genetic explanation of Mendel’s first law and the 3:1 ratio
NB: It became so obvious to predict which trait of a given pair is dominant over
the other. In a cross starting with pure breeding parental stocks, all the F1
hybrids show the dominant trait. In addition, a larger proportion of the F2
hybrids show the dominant trait while those showing the recessive one are
always fewer
WORKED EXAMPLES
1. In a garden pea plant there are two forms of heights. When a pure breeding tall pea
plant was crossed with a short pea plant all the offsprings obtained where tall
when the offsprings were selfed a phenotype ration was obtained in F2.
a. Using suitable genetic symbols, workout the genotypes and phenotypes of the
F2 generation
b. What are the phenotypic and genotypic ratios of the F2 generation
c. Explain how you would determine the genotype of F1 tall pea plants formed
d. Suppose 700 pea plants where produced in the F2 generation
i. How many were tall?
ii. How many were short?
2. Suppose a man who is a tongue roller marries a woman who is a non-tongue roller
and all the children obtained in F1 are tongue rollers.
(a) Work out the phenotypic and genotypic ratio as obtained in F2 generation.
(b) What is the probability that the 4th born is a non-tongue roller?
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Note; for any genetic cross:
Solutions
(a)
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Genotypic ratios: 1AA: 2Aa: 1aa; phenotypic ratios: 3tongue rollers: 1non-roller
NB:
Each gamete carrying any of the two alleles has 0.5 chance of fusing with the
gamete from the other parent,
In case of individuals showing the dominant trait, the genotype may either be
homozygous dominant or heterozygous. Such genotypes can be determined by
performing a test cross; that is, crossing the unknown with a homozygous
recessive individual. If the unknown is homozygous, the resultant hybrids will
all show the dominant trait but otherwise, a mixture of dominant and recessive
traits are produced in a ratio of 1:1
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EXAMPLES OF MONOHYBRID INHERITANCE IN MAN
There are many genetically determined abnormalities and diseases that affect
man (and other animals). Since these are genetic diseases, they can only be
inherited from parents and their occurrence is determined by those genes
inherited from parents during fertilization
Sickle-cell anaemia
Albinism
Achondroplasia
Cystic fibrosis and many more
NB: Research has showed that most of, though not all the genetic
abnormalities are caused by recessive genes (alleles) and the genes responsible
for normal conditions are dominant. This implies that for an individual to
suffer from such diseases, they must have two copies of the responsive genes
(homozygous recessive). The heterozygotes and the homozygous dominant
individuals are normal. Though the former are phenotypically normal but their
cells contain a copy of the recessive allele and are described as carriers
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INHERITANCE OF SICKLE-CELL ANAEMIA
Being a recessive character, for a person to be a sufferer they must possess two
copies of the faulty gene (homozygous recessive, i.e. HbSHbS or ss).
Heterozygotes (carriers, i.e. HbAHbS or Ss) have one copy of the responsive
gene whose effects are masked by the other dominant gene. They don’t suffer
from the disease symptoms except at exceptionally low oxygen tensions; this is
known as sickle-cell trait.
Question; if two people suffering from sickle cell trait are married, what is the
probability that they will produce an anaemic child?
Solution
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Genotypic ratios: 1HbAHbA:2HbAHbS:1HbSHbS
1. Anaemia this is occurs because the sickle cells are destroyed which lowers
the amount of oxygen to be carried leading to acute anaemia. This leads to;
Fatigue (weakness)
Poor physical development
Dilation of the heart which may lead to heart failure
2. Interference with circulation of blood because sickle cells get jammed in tiny
capillaries and small arteries. This leads to;
Heart damage which leads to heart failure
Lung damage which leads to pneumonia
Kidney damage which leads to kidney failure
Liver damage
3. Enlargement of the spleen because the sickle cells collect in the spleen for
destruction
The effects above make the homozygous sufferers to often die before
reproductive age.
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NB: Despite the above complications suffered by sufferers of sickle cell
anaemia, the heterozygotes tend to have an advantage of showing increased
resistance to the plasmodium parasite that causes malaria much more than
both the sufferers and the normal. This resistance is as a result of two factors:
The consistent change in oxygen levels between normal and sickle cells
makes it difficult for the parasite to adapt. In such cases, the immune
system of the body eliminates the parasites before the disease is
established rendering resistance to the heterozygotes
INHERITANCE OF ALBINISM
Light-coloured skin
White hair
Pink eyes
SQ; man with normal skin marries a carrier for albino skin. What is the
probability that some of their children will be albinos?
What is the probability that the sister with normal colour is a carrier?
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INHERITANCE OF CYSTIC FIBROSIS
T
his is a recessive character caused by a mutation resulting into
accumulation of abnormally thick and sticky mucus that blocks the
pancreatic duct, bile duct and air passages.
In the pancreas, fibrous patches called cysts develop (hence the name) and
complications include digestive problems due to poor release of pancreatic
enzymes, poor absorption of digestive products, chronic lung diseases, reduced
fertility etc.
ACHONDROPLASIA (DWARFISM)
Although many harmful alleles are recessive, a number of human disorders are
due to dominant alleles. One example is achondroplasia, a form of dwarfism
that occurs in one of every 25,000 people in the world. Heterozygous
individuals therefore have the dwarf phenotype as shown below.
Since this character is dominant (caused by a
dominant allele), all people who are not
achondroplastic -99.99% of the population-are
homozygous for the recessive allele. Like the presence
of extra fingers or toes mentioned earlier,
achondroplasia is a trait for which the recessive allele
is much more prevalent than the corresponding
dominant allele.
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DIHYBRID INHERITANCE AND MENDEL’S SECOND LAW OF
INHERITANCE
For instance, in one of his experiments; Mendel crossed pure breeding tall pea
plants with red flowers with pure breeding dwarf plants having white flowers.
All in the F1 progeny were tall with red flowers. This showed just like Mendel
had discovered before that the alleles for tallness and red flowers were
dominant to those for dwarfness and white flowers respectively.
From this and many other similar crosses, Mendel was able to make the
following observations:
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The allelomorphic pairs of characteristics (controlled b different alleles of
the same gene) occurred in a phenotypic ratio of 3 dominant: 1 recessive.
E.g. 3tall: 1 dwarf and 3red: 1 white.
Basing on these observations, Mendel formulated his second law known as the
law of independent assortment. The law states that; “Any one of a single pair
of characters may combine randomly with either one from another pair”
By selfing F1 plants;
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NB: When performing a dihybrid cross;
Alleles of the same gene cannot pass into the same gamete (they
segregate during meiosis). I.e. T can only be present with Y or y but not t
while t can only be present withy or y but not T as in the above case
The possible combination of gametes during fertilization is shown in a
Punnett square (after the Cambridge geneticist R. C. Punnett). This
minimizes errors when listing the combinations.
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In summary; the following can be noted from Mendel’s hypotheses:
MEIOSIS EXPLAINS:
Illustrations:
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NB: For the haploid number of chromosomes = n, the total number of possible
combinations in gametes is given by 2n
WORKED EXAMPLES:
1. When a pure breeding broad and long winged female fly was crossed with a
narrow and vestigial winged male fly all the F1 offsprings obtained head
broad abdomen and long wings.
a) Using suitable genetic symbols work out the phenotypes and genotypes that
were obtained in F2 generation.
b) Suppose 480 flies were obtained in F2 work out the numbers of the flies for
each phenotype class.
c) How many of these flies were recombinants.
Solutions:
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Obtaining F2
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SAMPLE QUESTIONS:
1) In guinea pigs, there are two alleles for hair colour and two for hair length.
In a breeding experiment, all the F1phenotypes produced from a cross
between pure breeding short black-haired and long white-haired parents
had short black hair. Explain
a) Which alleles are dominant
b) The expected F2 phenotypes
2) Flower in sweet pea plants is determined by two allelomorphic pairs of genes
(R,r and S,s). Presence of at least one dominant gene from each pair makes
the flowers purple while all other genotypes are purple. If two plants
heterozygous for both genes are crossed, what will be the phenotypic ratio of
the offsprings (9:7)
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EXCEPTIONS TO MENDEL’S LAWS
I
t should however be noted with concern that Mendel’s laws of inheritance
are not of universal application to all processes of inheritance in
organisms, For the work that led to his two laws of inheritance, Mendel
chose pea plant characters that turn out to have a relatively simple genetic
basis: Each character is determined by one gene, for which there are only two
alleles, one completely dominant and the other completely recessive. But these
conditions are not met by all heritable characters, and the relationship between
genotype and phenotype is rarely so simple. In this section, we will extend
Mendelian genetics to hereditary patterns that were not reported by Mendel.
These are referred to as exceptions to Mendel’s laws of inheritance because
they never produce the 3:1 or the 9:3:3:1 ratios of phenotypes in monohybrid
and dihybrid crosses respectively.
LINKAGE
This is the condition when two or more genes are carried on the same
chromosome
Such genes form a linkage group and pass into the same gamete during
meiosis and are therefore inherited together. As a result, these genes do not
show independent assortment (applies to genes on non-homologous
chromosomes) and fail to produce the 9:3:3:1 ratio.
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In drosophila, the alleles for grey body and long wings are dominant to those
for black body and vestigial wings respectively. If pure breeding grey bodied
long winged drosophilae are crossed with pure breeding black bodied vestigial
winged drosophila; all in the F1 are grey with long wings. Surprisingly in the F2,
a 3:1 ratio of grey long winged and black vestigial winged (the original parental)
phenotypes are obtained as follows.
Obtaining F2 generation:
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Phenotypic ratio is 3 grey long winged: 1 black vestigial winged.
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To his disappointment; even after performing the test cross several times,
Morgan never obtained the predicted outcomes. He instead obtained
approximately equal numbers of the parental phenotypes with significantly few
recombinant phenotypes also in approximately equal numbers as summerised
below.
Morgan explained his results in terms of crossing over; the responsive genes
are located on the same chromosomes (linked) with the alleles of each gene on
homologous chromosomes. Alleles were exchanged between homologous
chromosomes during meiosis, leading to new gene combinations in gametes
hence producing recombinant phenotypes; as shown below.
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Sample question:
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Crossing over and cross over values
During crossing over, the frequency of crossovers which take place was found
to be dependent on the distribution and arrangement of chromosomes. This is
given by the cross over value/frequency aka recombination frequency. This is
calculated as a percentage ration of recombinants to the total number of
offsprings.
𝑁𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑟𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡𝑠
𝐶𝑜𝑉 = 𝑥100
𝑇𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑜𝑓𝑓𝑠𝑝𝑟𝑖𝑛𝑔𝑠
Example
In a test cross carried out on a grey long winged drosophila, the following
results were obtained
Solution:
𝑁𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑟𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡𝑠
𝐶𝑜𝑉 = 𝑥100
𝑇𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑜𝑓𝑓𝑠𝑝𝑟𝑖𝑛𝑔𝑠
206 + 185
𝐶𝑜𝑉 = 𝑥100
(965 + 944) + (206 + 185)
= 17%
The COV also indicates the relative distance between linked genes and the
possibility of successful crossing over during meiosis, in the above case the
distance between adjacent genes is 17 units. These values can also be used to
position genes along the chromosome a process called gene mapping.
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Consider the cross over values involving for different genes P, Q, R and S.
a. Insert the positions of the genes with the smallest cross over value first in
the middle of the chromosome map
b. Examine the next largest cross over value and insert both possible positions
of its genes on the chromosomes relative to either S or P.
c. Repeat the procedure for the entire remaining cross over values until you
reach the largest cross over values.
Example
In maize, the genes for coloured seed and full seed are dominant to the genes
for colourless and shrunken seed. Pure breeding strains of double dominant
variety were crossed with a double recessive variety and a test cross of the f1
generation produced the following results
Coloured shrunken 14
Colourless full 10
Calculate the distance between the genes for coloured seed and seed shape
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DEGREES OF DOMINANCE
In the conventional Mendelian inheritance, each trait is controlled by a pair of
alleles located at the same locus of homologous chromosomes, one dominant
and the other recessive. In such cases, offsprings always resemble one or the
other of the parents and phenotypes of the heterozygote and the dominant
homozygote are indistinguishable. This condition is called complete
dominance. Some traits however are controlled by alleles neither of which
shows complete dominance or recessiveness over the other. Such alleles are
either equally dominant (codominant) or incompletely dominant.
INCOMPLETE DOMINANCE
This is when alleles fail to show complete dominance or recessiveness such
that their phenotypes blend (mix) to produce an intermediate in the
heterozygote.
When red snapdragons are crossed with white snapdragon plants
(Antirrhinum); all the F1 hybrids have pink flowers, while F2 hybrids produced 1
red: 2pink:1white plants as shown below
Note: Given that both alleles of the same gene are dominant, we let a single
letter for the gene and alleles attached as superscripts. I.e. CR and CW or simply
R and W represent alleles for red and white petals respectively. The third
phenotype results from flowers of the heterozygotes (CR CW or simply RW)
having less red pigment than the red homozygotes.
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F1 phenotypes : All pink
Obtaining F2
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Other examples of incomplete dominance include:
(4-oclock flower)
CODOMINANCE
During the inheritance of fur/coat colour in short-horned cattle, when red and
white cattle are mated, the F1 hybrid has white fur thickly interspersed with
red fur. This phenotype is referred to as roan
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Other examples of codominance include ABO blood groups and Sickle-cell trait
MULTIPLE ALLELES
These are three or more forms of the same gene occurring at the same locus
Most genes are known to occur in two alternative forms (allelic forms) located
on the same locus of homologous chromosomes. Some genes are known to
occur in more than two allelic forms called multiple alleles of which any two
can occupy the gene locus in a diploid organism. This is easily noticed for the
gene responsible for blood groups in man.
The gene for human blood group is known to occur in three allelomorphic
forms; A, B and o. Alleles A and B are codominant while o is recessive to both.
This is known as the ABO blood grouping system, with three alleles producing
six possible genotypes and four phenotypes.
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Blood group Possible genotypes
A Ao, AA
B Bo, BB
AB AB
O Oo
Sample question: The father and a mother are known to be heterozygous for
blood groups A and B. Show the possible genotypes of their children. If they
bear non-identical twins, what is the probability that both twins are of blood
group A.
Solution
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Example:
Work out the possible blood groups of the offsprings produced if a man of blood
group A marries a woman of blood group AB
ASSIGNMENT
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LETHAL GENES
Genes are usually known to control a single pair of contrasting traits. Some
genes may affect more than one characteristics including mortality. Such genes
are responsible for some features necessary for survival but they are
simultaneously responsible for lethal effects in the organisms and are therefore
called lethal genes.
These results can be explained by the fact that allele for yellow fur is dominant
over that for agouti and all living yellow mice are heterozygous for fur colour.
The 2:1 ratio of phenotypes is due to the death of the yellow mice that are
homozygous for fur colour before birth. This allele is therefore lethal in the
homozygous condition.
The homozygous dominant mice die before birth producing a genotypic ratio of
2: 1 as the phenotypic ratio.
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Examination of the uteri of yellow mice pregnant of yellow males revealed dead
yellow mice; which are not revealed in yellow mice pregnant of agouti males.
Note:
The allele for yellow fur is dominant for fur colour but recessive for
mortality. It can therefore persist within the population over
generations in heterozygous genotypes without phenotypic exposure
to environmental elimination.
Dominant lethal genes are very rare in a population because they are
phenotypically expressed for elimination by environment
In this case, two genes on different chromosomes (loci) interact to produce four
(4) distinct phenotypes of combs. Pea and rose combs are each produced by
presence of the dominant forms of their respective genes (P and R respectively)
but in absence of the other dominant gene. The walnut and single combs are
produced by the interaction of the genes at both loci as summerised below:
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Name of Production Possible genotypes
comb
Walnut comb Dominant alleles for both P and R PPRR, PpRR, PPRr, PpRr
Starting with pure breeding parents, the following are the expected results for
F1 and F2 generations.
Obtaining F2
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Phenotypic ratios: 9 walnut: 3Pea: 3rose: 1single
Sample question
In poultry, the allele for white feathers (W) is dominant over the allele for black
feathers (w). The alleles P, for pea comb and R, for rose comb produce their
respective phenotypes. If they are present together, the comb shape is modified
to walnut and if their recessive alleles are present in homozygous recessive
condition, a single comb I produced. A cross between a black rose comb cock
and a white walnut hen produced the following phenotypes:
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3white walnut: 3black walnut: 3white rose: 3black rose: 1white pea: 1black
pea: 1white single: 1black single. Identify the possible parental genotypes and
show clearly how they give rise to the above phenotypes.
EPISTASIS
This is a form of gene interaction where one gene suppresses the effects of
another gene at a different locus. The suppressing gene is referred to as an
epistatic gene (inhibiting gene) while the suppressed gene is called a hypostatic
gene.
Fur color in mice depends on two non-allelic genes, the dominant form of one
gene is responsible for coloured fur while its recessive form results into no
colour deposition and the phenotype is white (albino). If colour is present, the
nature is determined by another gene whose dominant allele produces grey fur
(agouti) while the recessive allele produces black fur. Any of the two colours
can be present only and only if their respective alleles are accompanied by the
gene for coloured fur. Absence of this gene will result into albinos even if the
genes for grey or white are present. The gene for coloured fur is hypostatic to
the gene responsible for colour of fur (hypostatic).
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Examples
In oat plants, the inheritance of color is controlled by the gene with two alleles,
the dominant results into colour formation while the recessive results into no
colour formation (white or albino). The other gene is responsible for the kind of
colour, if present with the allele for grey being recessive to one for black.
Identify the nature of gene interaction and show the F1 and F2 outcomes
starting with true breeding parental stocks.
Obtaining F2;
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INHERITANCE OF SEX AND SEX DETERMINATION
Some ancient Greeks thought that sex depends on the testicle from which the
sperm comes, some European kings tied off or removed their left testes to
ensure a male heir to the throne. Others believed that the sex depends on the
phase of the moon during conception, wind direction or speaking certain
words. Currently we know that sex is determined by sex chromosomes.
In man, there are 23 pairs of chromosomes; of these only one pair carries genes
for sex determination. These are called sex chromosomes (heterosomes)
designated X and Y, and the other 22 pairs are called autosomes. A genotype
XX is described as homogametic and is female while XY is described as
heterogametic and is a male. During meiosis, the two sex chromosome
segregate such that each ovum carries one X chromosome, half of the sperms
carry an X chromosome and the other half carry a Y chromosome. If a sperm
carrying an X chromosome fuses with the ovum, the zygote is female and if the
sperm is carrying a Y chromosome, the zygote is male. Sex is therefore
determined by the sex chromosome carried in the sperm as a matter of chance.
This is called the X-Y system and occurs mainly in mammals with humans
inclusive. The females are described as homogametic because all their gametes
contain the same sex chromosome-the X chromosome while the males are
heterogametic because 50% of the gametes produced contain an X
chromosome and 50% contain a Y chromosome for sex. In some animals like
birds (including poultry), moths and butter flies; the sex genotypes are
reversed. The homogametic genotypes (XX) are male while the heterogametic
genotype (XY) is female.
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In some species of bees and ants, there are no sex chromosomes. Females
develop from fertilized eggs and are thus diploid while males develop from un
fertilized eggs and are haploid, without feathers.
Example:
This shows that there is a 50% chance of any child being a male or female
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SEX CHROMOSOMES
The sex chromosomes are called heterosomes because they are non-identical
and are designated X and Y. The X chromosome is rod shaped and much
bigger than the Y chromosome which is hook shaped.
SEX LINKAGE:
Sex-linked genes are genes carried on sex chromosomes and inherited together
with those determining sex. Sex linked traits (characters) are traits determined
by genes carried on sex chromosomes and inherited together with those
determining sex.
Note: The Y chromosomes don’t carry genes, sex linked genes are specifically
carried on the X sex chromosomes but not on the Y chromosome.
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Many experiments were carried out by Thomas Morgan about sex-linked genes
in drosophila. In one of his experiment, Morgan mated a wild type (pure
breeding) red-eyed female with a mutant (white eyed) male. All the F1 hybrids
were red eyed. He went on to interbreed the F1 males and females to obtain an
F2 generation which consisted of red eyed and white eyed offsprings in a ratio
of 3:1 respectively. However, all female were red eyed and all the white eyed
flies were males though some males were red eyed.
In conclusion, all the F1 were red eyed; implying that this allele is dominant
over that for white. Since in the F2 all the white eyed were males, this indicates
that the gene for eye colour is located on the X chromosome and there is no
corresponding locus on the Y chromosome; otherwise some females would also
be white eyed
Obtaining F2 generation;
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Phenotypic ratios: 3 red eyed: 1 white eyed
Note that all the white eyed are males yet some red eyed are males
Sample question:
1. If the gene for eye colour was autosomal, predict the phenotypes of the F2
hybrids (including sex) in this hypothetical cross. (Show your working).
a. Perform a test cross on the F1 female fly obtained in the above cross.
b. What would be the phenotypes of the reciprocal cross between the
original parents?
2. In drosophila, the genes for wing length and eye colour are sex-linked; with
normal wings and red eyes being dominant to miniature wings and white
eyes respectively.
a. In a cross between a miniature-winged red eyed male and a homozygous
normal wing white eyed female; explain the expected appearance of F1
and F2 generations.
b. Crossing a female from the F1 generation above with a miniature wing
white eyed male gave the following results:
Normal wing white eyed males and females = 35
Normal wing red eyed males and females = 17
Miniature wing red eyed males and females = 18
Miniature wing white eyed males and females = 36
Account for the appearance and numbers of the phenotypes listed above.
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Examples of sex linked characters in man include the following
Haemophilia
Colour blindness
Pre-mature balding
Eye colour in drosophila
Most of these characters are caused by recessive alleles and in a genetic cross,
these must be represented as superscripts on the x sex chromosome.
The allele being recessive, haemophiliac females must inherit two copies of the
defective allele while males inherit one copy. The heterozygous females show
normal blood clotting and are described as carriers. This is because the other X
chromosome carries a dominant allele needed for normal blood clotting which
suppresses the recessive allele for haemophilia. The males lack the alternative
allele and the recessive allele is automatically expressed phenotypically.
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Example: When a carrier woman is married to a normal man
It can be noted that there is a 50% chance of a daughter being a carrier and a
50% chance of a son being haemophiliac. Sons can only inherit haemophilia
(and other sex linked traits) from their mothers but not fathers as they only
inherit the father’s Y chromosome and not the X chromosome that carries sex
linked genes. Girls can inherit from both parents.
COLOUR BLINDNESS
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Example
Green colour blindness is sex linked in man. A normal man married a colour
blind woman. Using suitable genetic symbols workout the genotypes and
phenotypes of their children
NB: Sex linked characters have been found to occur more commonly in males
as compared to females in the human population. Being caused by recessive
alleles, the other X chromosome in females may carry a dominant allele to
mask the defective allele hence preventing its phenotypic expression in the
population. In males however, these genes are carried on the non-homologous
portion of the X chromosome for which there is no alternative gene on the Y
chromosome. Such genes are automatically expressed in males leading to
higher frequencies in males as compared to females.
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SEX LIMITED CHARACTERISTICS
Se limited characters are characters that are more pronounced in one sex than
the other.
Though both sexes may carry genes responsible for these characteristics,
pronounced expression is strictly limited to one of the two sexes. They are
usually carried on autosomes but may largely be influenced by the level of sex
hormone in the body.
Examples include;
PEDIGREE ANALYSIS
Whereas peas are convenient subjects for genetic research, humans are not.
The human generation span is about 20 years, and human parents produce
relatively few offspring compared to peas and most other species. Even more
important, no one would consider it ethical to ask pairs of humans to breed so
that the phenotypes of their offspring could be analyzed! In spite of these
constraints, the study of human genetics continues to advance, spurred on by
the desire to understand our own inheritance. New techniques in molecular
biology have led to many breakthrough discoveries, as we will see in Chapter
20, but basic Mendelism endures as the foundation of human genetics .Unable
to manipulate the mating patterns of people, geneticists must analyze the
results of matings that have already occurred. They do so by collecting
information about a family's history for a particular trait and assembling this
information into a family tree describing the traits of parents and children
across the generations-the family pedigree. Figure 14.1Sa shows a three-
generation pedigree that traces the occurrence of a pointed contour of the
hairline on the forehead. This trait, called a widow's peak, is due to a dominant
allele, W because the widow's peak allele is dominant; individuals who lack a
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widow's peak must be homozygous recessive (ww). The two grandparents with
widow's peaks must have the Ww genotype, since some of their offspring are
homozygous recessive. The offspring in the second generation who do have
widow's peaks must also be heterozygous, because they are the products of
Ww x ww matings. The third generation in this pedigree consists of two sisters.
The one who has a widow's peak could be either homozygous (WW) or
heterozygous (Ww), given what we know about the genotypes of her parents
(both Ww). Figure 14.1Sb is a pedigree of the same family, but this time we
focus on a recessive trait, attached earlobes. We'll use f for the recessive allele
and F for the dominant allele, which results in free earlobes. As you work your
way through the pedigree, notice once again that you can apply what you have
learned about Mendelian inheritance to understand the genotypes shown for
the family members.
An important application of a pedigree is to help us calculate the probability
that a child will have a particular genotype and phenotype. Suppose that the
couple represented in the second generation of Figure 14.15 decides to have
one more child. What is the probability that the child will have a widow's peak?
This is equivalent to a Mendelian F] monohybrid cross (Ww x Ww), and thus
the probability that a child will inherit a dominant allele and have a widow's
peak is ¾ (¼ WW + ½ Ww). What is the probability that the child will have
attached earlobes? Again, we can treat this as a monohybrid cross (Ff x Ff), but
this time we want to know the chance that the offspring will be homozygous
recessive (.ff). That probability is ¼ . Finally, what is the chance that the child
will have a widow's peak and attached earlobes? Assuming that the genes for
these two characters are on different chromosomes, the two pairs of alleles will
assort independently in this dihybrid cross (WwFf x WwFf). Thus, we can use
the multiplication rule: ¾ (chance of widow's peak) x ¼ (chance of attached
earlobes) = 3/16 (chance of widow's peak and attached earlobes).
Pedigrees are a more serious matter when the alleles in question cause
disabling or deadly diseases instead of innocuous human variations such as
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hairline or earlobe configuration. However, for disorders inherited as simple
Mendelian traits, the same techniques of pedigree analysis apply.
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QUESTIONS
I. Beth and Tom each have a sibling with cystic fibrosis, but neither Beth nor
Tom nor any of their parents have the disease. Calculate the probability that if
this couple has a child, the child will have cystic fibrosis.
What would be the probability if a test revealed that Tom is a carrier but Beth
is not?
2. Joan was born with six toes on each foot, a dominant trait called
polydactyly. Two of her five siblings and her mother, but not her father, also
has extra digits. What is Joan's genotype for the number-of-digit character?
Explain your answer. Use D and d to symbolize the alleles for this character.
3. What would you suspect if Peter was born with polydactyly, but neither of
his biological parents had extra digits?
1. Incomplete dominance and epistasis are both terms that define genetic
relationships. What is the most basic distinction between these terms?
2. If a man with type AB blood marries a woman with type 0 blood, what blood
types would you expect in their children?
3. A rooster with gray feathers is mated with a hen of the same phenotype.
Among their offspring, 15 chicks are gray, 6 are black, and 8 are white. What is
the simplest explanation for the inheritance of these colors in chickens? What
phenotypes would you expect in the offspring of a cross between a gray rooster
and a black hen?
1. A white-eyed female Drosophila is mated with a red eyed (wild-type) male, the
reciprocal cross of the one shown in Figure 15.4. What phenotypes and
genotypes do you predict for the offspring?
3. Genes A, B, and C are located on the same chromosome. Testcrosses show
that the recombination frequency between A and B is 28% and between A and
C is 12%. Can you determine the linear order of these genes? Explain.
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