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Population Genetics
Population Genetics
Population Genetics
POPULATION GENETICS
Like many branches of biology, what we think of today as population genetic would
hardly be recognised by the founding fathers of the discipline . if you had been studying
population genetics 80 years ago, you would probably have been working on the
heritability of microscope traits in drosophila or developing efficient crossing schemes
for agricultural breeding , 30 years ago you may have been analyzing levels of protein
polymorphism and population differentiation . These days if you work in population
genetics you are more likely to be interested in using DNA sequence variation to map
disease mutations in human , or sites of adaptive evolution in viral genomes .
But of course there is a link between all three types of study ; the genetics of variation .
and broadly speaking , population genetics can be defined as the study of the genetical
basis of naturally occurring variation , with the aim of describing and understanding the
evolutionary forces that create variation within species and which lead to differences
between species .This lecture is meant to be an introduction to the subject of population
genetics . one of the most important things is to know what a population geneticist
means by terms you are already familiar with , because it is more than likely that the
two are not the same. The most important term is the gene.
What sets population genetics apart today from newer , more phenotypic approaches to
modeling evolution , such as evolutionary game theory and adaptive dynamics , is its
emphasis on genetic phenomena as dominance, epistasis, and the degree to which
genetic recombination breaks up linkage disequilibrium .This makes it appropriate for
comparison to population genomics data
Human population : In biology ,a population is all the organisms of the same group or
species, which live in a particular geographical area, and have the capability of
interbreeding. The area that is used to define a sexual population is defined as the area
where interbreeding is potentially possible between any pair within the area , and
where the probability of cross breeding with individuals from other areas .In sociology ,
population refers to a collection of humans. Demography is a social science which
entails the statistical study of human populations. Population in simpler terms is the
number of people in a city or town, region, country or world ; population is usually
determined by process called census .
The unit of heredity of all organisms is called a gene, and it can have many different
versions called alleles. Normally, individuals have two alleles for one gene. A dominant
allele is usually designated by an uppercase letter and masks the effects of another
allele, the recessive allele. Recessive alleles are normally represented by lowercase
letters and is - as you can no doubt guess - the non-dominant allele.
If an individual has the same two alleles for a gene, this is called homozygous. If an
individual has two different alleles for a gene, this is called heterozygous. The
combination of alleles an individual inherits is called the genotype. What that individual
actually looks like is called the phenotype. A recessive trait is the phenotype that is seen
only when a homozygous recessive genotype for the trait of interest is present. This
means that an individual must have two recessive alleles for the gene that determines
this trait of interest.
Let's look at an example. Humans have at least two types of earlobes: detached and
attached. The dominant allele for determining earlobe type, which we will write as 'E,'
specifies free or detached earlobes. The recessive allele, which we will call 'e,' is code for
attached earlobes. Remember, individuals must have two alleles for a gene, so someone
could be homozygous dominant (EE), homozygous recessive (ee), or heterozygous (Ee).
In this example, the recessive trait is having attached earlobes and is only seen in
someone with the genotype ee (homozygous recessive).
It's time to bust the lid off some common misconceptions about recessive genes. First,
when you hear the term "recessive genes," you probably think of physical characteristics
in humans that are less common. But that's the wrong way to look at things. It's true
that many recessive traits tend to be less common, but the fact is that many important
and "normal" human features you see every day are actually recessive! And we've got a
list of recessive human genes to prove it.
It works like this: a recessive genome is one that only manifests itself when there is no
dominant gene present. For example, if your mom had red hair and your dad had black
hair, then you're going to have black hair because that colour hair is the dominant one.
However, if both your parents have red hair, you're going to have red hair! As it turns
out, many traits we now take for granted are so common that the dominant gene
is either not around as much or gone altogether. A few of the most common recessive
genes in humans are even ones you would think are dominant.
But let's see if we can surprise you a little. Think you can guess the most common
recessive human genes? Take a look at our recessive human genes list, and see if we're
able to shock you within the first five traits.
Fig. 1.1 Straight hair type:
Body hair is one of recessive allele or blond hair but has recessive once.The parents both
have brown hair.The possibility is brown hair.
Fig. 1.3 Abnormal eye sight
An eye disease affecting the macula causing loss of central vision. A type of severe
headache accompanied by various visual symptoms.The abnormal response of sensitive
eyes to contact with allergens and other irritating substance.
The square face can be a tricky one for bangs.Any bangs that are too straight across only
serve to emphasize the same angles in the jawline,which is exactly what you are trying
to soften [along with bringing out the eyes]
The human ear lobe is composed of tough areolar and connective tissues.It has large
blood supply. The ear lobe contain many nerve endings. Hence they are attached ear
lobes.
Fig. 1.6 Straight hair line:
This gene has two alleles, one for widows peak and one for straight hair line is recessive.
Without a widows peak,these feels join in the middle of the forehead.So as to give a hair
line that runs straight across.
Cheek dimples when present,show up.When a person makes afacial expression.A chin
dimple is a fine small line,a chin without making any facial expression appears no
dimple.Dimples may appear and disappear over a period.
Let's see who paid attention in science class. Most people know that our physical traits
are determined by genes, and that our genetic material comes from our parents. Some
genes are dominant, others recessive. Dominant genes are those most prominently
displayed if present. Some of these dominant traits are prevalent enough to impact the
physical makeup of humanity.
Conversely, dominant does not always mean common. There are times at which
recessive genes are the norm. This list of dominant human genes focuses on dominant
traits common in the majority of the population. Give it a look to see which of your genes
are dominant and which recessive.
Fig. 1.10 Brown eyes
Everyone has eyes. Except people who don't. And all eyes have color to them. Even if you
don't have eyes you know that much. But did you know that one eye color dominates the
rest to a startling degree? More than 55% of the global population has brown eyes. That
means brown eyes dominate the other five colors - hazel, blue, green, silver, and amber -
combined.
Maybe you've heard this before. High school science class, perhaps? It's a common
example. If you look at earlobes, you'll notice some are joined directly to the side of the
head, while others swing free. These free ear lobes come from dominant genes, and are
vastly more common than their attached counterparts. While no definitive global study
exists, it's estimated that more than two thirds of the human population has free
earlobes in some countries and cultures, however, the split is more like 50/50.
Fig. 1.12 Round face
You might be thinking "aren't all faces round?" Not if you're a blockhead. But
seriously, faces are categorized as either square or round, the subcategorized into a
number of types. Of the two major face-shape categories, round is the genetically
dominant. Though square faces appear more in certain races, round faces are dominant
worldwide.
As with long eyelashes, everyone seems to want a set of full, luscious lips. Lucky for
them, broad lips are in fact dominant in certain races those from hot climates display
this trait more commonly than others. Thin lips and small nostrils help the body retain
heat, which makes them genetically advantageous in cold climates.
When looking at the most common dominant genes in humans, the physical makeup of a
person can often be predicted.
Some of the most common dominant genes in humans come from parental inherited
gene variations known as alleles. Some are dominant and others are recessive, and
prevalence is often awarded to the dominant gene, resulting in many easily definable
and rather common physical traits among human beings. While parental inherited genes
usually consist of two separate alleles, they also come in many different variations.
Therefore, while of the many traits that each individual inherits from their parents are
completely left to chance, others are easily predictable.
When dealing with common dominant genes among humans, the physical makeup of a
person can often be predicted.
According to the Live Science website, handedness also provides an almost direct
outward reflection of a human’s motor coordination and brain wiring. This means that
by the genes affecting the body’s organ based symmetry in the way that they do, the
dominant brain hemisphere and motor coordination of each person is also determined.
Researchers have found that the dominant gene known as PCSK6 creates right sided
parts, while the othersdecide how the body’s organs are oriented. In addition to PCSK6,
researchers identified multiple other genes associated with hand dominance.
In rare cases, researchers also found that some humans with defective dominant genes
have what is known as “handed isomerism.” This not only results in two left sided
mentalities operating at the same time, but also accounts for multiple spleens within the
body.
While some earlobes are directly attached to the side of the head, the genes that make
up free swinging earlobes are often dominant. According to recent studies done by the
Tech Museum Of Innovation, researchers found that unattached earlobes were dominant
by simply observing the makeup of two separate families. In these studies, scientists
noticed that while all earlobes were attached among the first family, everyones in the
second were unattached. However, upon the marriage of a man from the first family and
a woman from the second, all of the children’s were free swinging. This helped to
determine that earlobe detachment was not only one of the most common dominant
genes in humans, but also one of the most obvious.
In addition to being highly sought after by many females all over the world, small and
subtle cheek indentions known as “dimples” are one of the most common dominant
genes in humans. However, while individuals with these small and subtle indentions
clearly express the dominant gene, it is not always guaranteed that their children will,
too. Serving as an irregular dominant, cheek dimples are not apparent in 100 percent of
children (even though the dominant gene was inherited). This is very rare, highly
unlikely, and often due to what geneticists have determined to be an irregularity that
causes dimples to come from multiple genes.
Through the inheritance of at least two dominant genes, individuals are able to develop
freckles. The mother’s heterozygous genotype enables her to carry two different gene
locus based alleles, with at least one for the freckles. Through the child’s inheritance of
this dominant gene, freckles are easily and automatically developed each and every
time. In fact, the only possible way that the freckles would not exist is if the child was
homozygous. Someone who is homozygous has two equal alleles, both of which fail to
produce freckles. In which case, the recessive allele would have to be received without
any dominant gene inheritance whatsoever.
The gene which causes the widow’s peak to be dominant among humans contains two
total alleles. While the recessive straight hairline gene will only work if inherited in a
pair of its own, the dominant gene which causes a widow’s peak to be one of the most
common dominant genes in humans will always win out if included. In other words, if
only one parent has this dominant gene it is possible, but if both have the gene.
The differential region of each chromosome contains genes that have no counterparts
on the other kind of sex chromosomes. These genes, whether dominant or recessive,
shows their effects in the male phenotype.Genes in the differential regions are called
hemizygous in the males.
The X- linked recessive genes show the following two more peculiar features:
criss-cross pattern of inheritance ,a X-linked recessive gene is transmitted from P1 male
parent to F2 male progeny through its F1 heterozygous females and different F1&F2
results in the reciprocal crosses
The X- linked recessive can be detected in human pedigree through the following:
The X- linked recessive phenotype is usually found more frequently in the male in the
female. This is because an affected can result only when both mother and father bear the
X-linked recessive allele whereas an affected male can result when only the mother
carries the genes .Further, if the recessive X-linked gene is very rare, almost all observed
cases will occur in males.
Usually none of the offspring of an affected male will be affected, but all his daughters
will carry the gene in masked heterozygous condition, so one half of their sons will be
affected.
None of the sons of an affected male will inherit the X-linked recessive gene, so not only
will they be free of the defective phenotype but they will not pass the gene along to their
offspring.
Dominant X-linked genes can be detected in human pedigrees through the following:
It is more frequently found in the female than in the male of the species.
The affected males pass the condition on to all of their daughters but to none of their
sons.
Female usually pass the condition on to one-half of their sons and daughters.
A X-linked dominant genes fails to be transmitted to any son from mother which did not
exhibit the trait itself.
In human X- linked dominant conditions are relative rare one of the example
Hypophosphatemia Another example includes hereditary enamel Hypoplasia in which
tooth enamel is abnormally thin so that teeth appear small and wear rapidly down to
the gums. (Example Drosophila)
Genes in the non – homologous region of the y-chromosome pass directly from male to
male. In man the Y-linked genes such as ichthyosis hystrix hypertrichosis are
transmitted directly from father to son. recently certain holandric genes have been
reported in humans. Example “genes” for H-Y antigen, histocompatibility
antigenspermatogenesis, height and slower maturation of individual The Y-linked genes
of H-Y antigen is located on short arm of Y chromosomes while genes controlling
spermatogenesis occur in the long arm of Y- chromosome of drosophila too contain
Y-linked gene for male fertility.
In the fish Lebistes,the Ychromosome contain a Y-linked gene maculates that determine
a pigmented spot at the base of dorsal fin of male individuals, this phenotype is passed
only from father to son, and females never carry or express the gene.
Porcupine man An Englishman by the name of Edward Lambert was born in 1717.His
skin was likethick bark which had to be shed periodically .The hairs on his body were
quill-like and he subsequently has been referred to as the “porcupine man”. He had six
sons, all of which exhibited the same trait the trait appeared to be transmitted from
father to son through four generation.None of the daughters ever exhibited the trait. In
fact, it has never been known to appear in females. So this trait was believed to be
holandric or Y-linked gene.
The of inbreeding on the lifetime performance of dairy cattle were examined using data
for production, somatic cell score and linear type for all Holstein cows that were scored
between 1983 and 1993. The result of fixed and mixed animal models differed. Relative
net income adjusted for opportunity cost for the 2,610,123 cows with an 84-mo
opportunity for herdlife was depressed by $14.79 for fluid market pricing and by $12.40
for manufacturing pricing per 1% i8ncrease in inbreeding. Mixed model estimates of
depression.
The rate of inbreeding and inbreeding effects on body weight and reproductive traits
were studied in three lines of rainbow trout from a Californian selection experiment, in
which Y was selected for body weight at 364 days of age, line E was selected for egg size
and line C was a random mated control. The coefficient of inbreeding, as estimated both
from effective population size with the assumption of random mating and from
observed pedigree increased from gen.5 by 7.8% and 7.5% in line C, by 5.7%.
The breeding records for 16 primate colonies representing six families and both
suborders were obtained from 10 institutions breeding primates in captivity and from
the international studbook on one endangered species. Inbreeding coefficient relative to
the founding population were calculated for each individual born .Individual with an
inbreeding coefficient of zero were classified as “noninbred”.
In the simplest case of a single locus with two alleles denoted A and a with frequencies
f(A) = p and f(a) = q, respectively, the expected genotype frequencies under random
mating are f(AA) = p2 for the AA homozygotes, f(aa) = q2 for the aa homozygotes, and
f(Aa) = 2pq for the heterozygotes. In the absence of selection, mutation, genetic drift, or
other forces, allele frequencies p and q are constant between generations, so
equilibrium is reached
The principle is named after G. H. Hardy and Wilhelm Weinberg, who first demonstrated
it mathematically. Hardy's paper was focused on debunking the then-commonly held
view that a dominant allele would automatically tend to increase in frequency; today,
confusion between dominance and selection is less common. Today, tests for
Hardy-Weinberg genotype frequencies are used primarily to test for population
stratification and other forms of non-random mating.
● Random mating. The HWP states the population will have the given genotypic
frequencies (called Hardy–Weinberg proportions) after a single generation of
random mating within the population. When the random mating assumption is
violated, the population will not have Hardy–Weinberg proportions. A common
cause of non-random mating is inbreeding, which causes an increase in
homozygosity for all genes
If a population violates one of the following four assumptions, the population may
continue to have Hardy–Weinberg proportions each generation, but the allele
frequencies will change over time.
If a population is brought together with males and females with a different allele
frequency in each subpopulation (males or females), the allele frequency of the male
population in the next generation will follow that of the female population because each
son receives its X chromosome from its mother. The population converges on
equilibrium very quickly.
1.9 Generalization
The simple derivation above can be generalized for more than two alleles
and polyploidy.
1.10 History
Suppose that Aa is a pair of Mendelian characters, A being dominant, and that in any
given generation the number of pure dominants (AA), heterozygotes (Aa), and pure
recessives (aa) are as p:2q:r. Finally, suppose that the numbers are fairly large, so that
mating may be regarded as random, that the sexes are evenly distributed among the
three varieties, and that all are equally fertile. A little mathematics of the
multiplication-table type is enough to show that in the next generation the numbers will
be as (p + q)2:2(p + q)(q + r):(q + r)2, or as p1:2q1:r1, say.
The interesting question is: in what circumstances will this distribution be the same as
that in the generation before? It is easy to see that the condition for this is q2 = pr. And
since q12 = p1r1, whatever the values of p, q, and r may be, the distribution will in any
case continue unchanged after the second generation
The principle was thus known as Hardy's law in the English-speaking world until 1943,
when Curt Stern pointed out that it had first been formulated independently in 1908 by
the German physician Wilhelm Weinberg.[9][10] William Castle in 1903 also derived the
ratios for the special case of equal allele frequencies, and it is sometimes (but rarely)
called the Hardy–Weinberg–Castle Law.
Multiple alleles Three or more alternative forms of a gene (alleles) that can occupy the
same locus. However, only two of the alleles can be present in a single organism. For
example, the ABO system of blood groups is controlled by three alleles, only two of
which are present in an individual.
Alleles are alternative forms of a gene, and they are responsible for different in
phenotypic expression of a given trait (e.g., brown eye versus green eyes). A gene for
which at least two alleles exist is said to be polymorphic instances in which particular
gene may exist in three or more allelic forms are known as multiple conditions. It is
important to note that while multiple alleles occur and are maintained with in a
population. Any individual possess only two such alleles (at equivalent loci on
homologous chromosome.
Two human example of multiple allele gene are the gene of the ABO blood group system,
and the human-leukocyte associated antigen (HLA) genes. The ABO system in human is
controlled by three alleles, usually referred to as IA ,IB , and IO (the “l” stands for
isohaemagglutinin). IA and IB are codominant and produce type A and type B antigens,
respectively, which migrate to the surface of red blood cells, while IO is the recessive
allele and produces no antigens. The blood group arising from the different possiple
genotype are summarized in the following table.
IA IA A
IA IO A
IB IB B
IB lO B
IA IB AB
IO IO O
HLA genes code for protein antigens that are expressed in most human cell types and
play an important role in immune responses. These antigens are also the main class of
molecule responsible for organ rejections following transplantations—thus their
alternative name: major histocompatibility complex (MHC) genes.
The most striking feature of HLA genes is their high degree of polymorphism —there
may be as many as one hundred different alleles at a single locus. If one also considers
that an individual possesses five or more HLA loci, it becomes clear why donor-recipient
matches for organ transplantations are so rare (the fewer HLA antigens the donor and
recipient have in common, the greater the chance of rejection).
It must be realized that although the above two are valid examples, most genes are not
multiply allelic but exist only in one or two forms within a population. Most of the DNA
sequence variation between individuals arises not because of differences in the genes,
but because of differences in the noncoding DNA found between genes.
The interesting feature about microsatellites is that they are very highly polymorphic for
the number of repeat lengths. For example, one particular individual might possess the
microsatellite sequence ACACACACAC at a specific locus on one chromosome, and the
sequence ACACACACACACACACAC at the same locus on the other homologous
chromosome.
1.13 Making Use of Polymorphic DNA
1.14 Inbreeding
Inbreeding, the mating of individuals or organisms that are closely related through
common ancestry, as opposed to outbreeding, which is the mating of unrelated
organisms. Inbreeding is useful in the retention of desirable characteristics or the
elimination of undesirable ones, but it often results in decreased vigour, size, and
fertility of the offspring because of the combined effect of harmful genes that were
recessive in both parents.
The closest type of inbreeding is selfing, or self-fertilization, the union of male and
female sex cells produced by the same organism. Linebreeding is a form of inbreeding
that involves selection of mates on the basis of their relationships to a certain superior
ancestor. The backcross (crossing a first-generation hybrid with one of the parental
types) is a common method of inbreeding.
Common fruit fly females prefer to mate with their own brothers over unrelated males.
Inbreeding results in homozygosis, which can increase the chances of offspring being
affected by recessive or deleterious traits.This generally leads to a decreased biological
fitness of a population (called inbreeding depression), which is its ability to survive and
reproduce. An individual who inherits such deleterious traits is referred to as inbred.
The avoidance of expression of such deleterious recessive alleles caused by inbreeding,
via inbreeding avoidance mechanisms, is the main selective reason for outcrossing.
Crossbreeding between populations also often has positive effects on fitness-related
traits, but also sometimes leads to negative effects known as outbreeding depression.
The fitness consequences of consanguineous mating have been studied since their
scientific recognition by Charles Darwin in 1839. Some of the most harmful effects
known from such breeding includes its effects on the mortality rate as well as on the
general health of the offspring.Within the past several decades, there have been many
studies to support such debilitating effects on the human organism. Specifically,
inbreeding has been found to decrease fertility as a direct result of increasing
homozygosity of deleterious recessive alleles.Fetuses produced by inbreeding also face a
greater risk of spontaneous abortions due to inherent complications in
development.Among mothers who experience stillbirths and early infant deaths, those
that are inbreeding have a significantly higher chance of reaching repeated results with
future offspring. Additionally, consanguineous parents possess a high risk of premature
birth and producing underweight and undersized infants. Viable inbred offspring are
also likely to be inflicted with physical deformities and genetically inherited diseases.
Studies have confirmed an increase in several genetic disorders due to inbreeding such
as blindness, hearing loss, neonatal diabetes, limb malformations, Schizophrenia and
several others. Moreover, there is an increased risk for congenital heart disease
depending on the inbreeding coefficient (See coefficient of inbreeding) of the offspring,
with significant risk accompanied by an F =.125 or higher.
Construct pedigree using available information. Rule out all patterns of inheritance that
are inconsistent with the data. May not have enough information to identify the mode of
inheritance. Some genetic disorders may have more than one pattern of inheritance.
Fig. 1.21
From this pattern we can immediately deduce autosomal inheritance, with the recessive
allele responsible for the exceptional phenotype (indicated by shading). Furthermore,
we can deduce that the parents must both be heterozygotes, P/p. (Both must have
a p allele because each contributed one to each affected child, and both must have
a P allele because the people are phenotypically normal.) We can identify the genotypes
of the children (in the order shown) as P/–, p/p, p/p, and P/–. Hence, the pedigree can
be rewritten
Fig. 1.22
Notice another interesting feature of pedigree analysis: even though Mendelian rules are
at work, Mendelian ratios are rarely observed in single families because the sample sizes
are too small. In the above example, we see a 1:1 phenotypic ratio in the progeny of
what is clearly a monohybrid cross, in which we might expect a 3:1 ratio. If the couple
were to have, say, 20 children, the ratio would undoubtedly be something like 15
unaffected children and 5 with
PKU (the expected monohybrid 3:1 ratio), but in a sample of four any ratio is possible
and all ratios are commonly found.
In the case of a rare recessive allele, in the population most of these alleles will be found
in heterozygotes, not in homozygotes. The reason is a matter of probability: to conceive
a recessive homozygote, both parents must have had the p allele, but to conceive
a heterozygote all that is necessary is one parent with the allele. The formation of an
affected individual usually depends on the chance union of unrelated heterozygotes, and
for this reason the pedigrees of autosomal recessives look rather bare, generally with
only siblings of one cross affected.
Inbreeding (mating between relatives) increases the chance that a mating will be
between two heterozygotes. Individuals III-5 and III-6 are first cousins and produce two
children. You can see from the figure that an ancestor who is a heterozygote may
produce many descendants who are also heterozygotes. Matings between relatives thus
run a higher risk of producing abnormal homozygous recessives than do matings
between nonrelatives. It is for this reason that first cousin marriages are responsible for
a large portion of recessive diseases in human populations.
Fig. 1.23
An albino. The phenotype is caused by homo-zygosity for a recessive allele, say,a/a. The
dominant alleleA determines one step in the chemical synthesis of the dark pigment
melanin in the cells of skin, hair, and eye retinas. In a/a individuals this step
Fig. 1.24
Genetics and the molecular biology of albinism. In the pedigree, parents heterozygous
for the recessive albinism allele produce three A/– progeny, who have melanin in their
cells, and one a/a male, who is albino. The three panels at the bottom
In autosomal dominant disorders, the normal allele is recessive and the abnormal allele
is dominant. It might seem paradoxical that a rare disorder can be dominant, but
remember that dominance and recessiveness are simply reflections of how alleles act
and are not defined in terms of predominance in the population. An example of a rare
autosomal dominant phenotype is achondroplasia, a type of dwarfism. In this case,
people with normal stature are genotypically d/d, and the dwarf phenotype in principle
could be D/d or D/D. However, it is believed that in D/D individuals the two “doses” of
the D allele produce such a severe effect that this genotype is lethal. If true, all
achondroplastics are heterozygotes.
The human achondroplasia pheno-type, illustrated by a family of five sisters and two
brothers. The pheno-type is determined by a dominant allele, which we can call D, that
interferes with bone growth during development. Most members of the human
population
In pedigree analysis, the main clues for identifying an autosomal dominant disorder are
that the phenotype tends to appear in every generation of the pedigree and that affected
fathers and mothers transmit the phenotype to both sons and daughters. Again, the
representation of both sexes among the affected offspring argues against X-linked
inheritance. The phenotype appears in every generation because generally the
abnormal allele carried by an individual must have come from a parent in the previous
generation. (Abnormal alleles can arise de novo by mutation. This is relatively rare, but
must be kept in mind as a possibility.) A typical pedigree for a dominant disorder is
shown in . Once again, notice that Mendelian ratios are not necessarily observed in
families. As with recessive disorders, individuals bearing one copy of the rare allele
(A/a) are much more common than those bearing two copies (A/A), so most affected
people are heterozygotes, and virtually all matings involving dominant disorders
are A/a × a/a. Therefore, when the progeny of such matings are totaled, a 1:1 ratio is
expected of unaffected (a/a) to affected individuals (A/a).
Fig. 1.25
Fig. 1.26
Many more males than females show the phenotype under study. This is because a
female showing the phenotype can result only from a mating in which both the mother
and the father bear the allele (for example, X A /X a × X a /Y), whereas a male with the
phenotype can be produced when only the mother carries the allele. If the recessive
allele is very rare, almost all individuals showing the phenotype are males.
None of the offspring of an affected male are affected, but all his daughters must be
heterozygous “carriers” because females must receive one of their X chromosomes from
their fathers. Half the sons born to these carrier daughters are affected.
Perhaps the best-known example is hemophilia, a malady in which a person’s blood fails
to clot. Many proteins must interact in sequence to make blood clot. The most common
type of hemophilia is caused by the absence or malfunction of one of these proteins,
called factor VIII. The most famous cases of hemophilia are found in the pedigree8 of the
interrelated royal families of Europe. The original hemophilia allele in the pedigree
arose spontaneously (as a mutation) in the reproductive cells of Queen Victoria’s
parents or of Queen Victoria herself. Alexis, the son of the last czar of Russia, inherited
the allele ultimately from Queen Victoria, who was the grandmother of his mother
Alexandra. Nowadays, hemophilia can be treated, but it was formerly a potentially fatal
condition. It is interesting to note that in the Jewish Talmud there are rules about
exemptions to male circumcision which show clearly that the mode of transmission of
the disease through unaffected carrier females was well understood in ancient times.
For example, one exemption was for the sons of women whose sisters’ sons had bled
profusely when they were circumcised.
Fig. 1.27
Pedigree showing that X-linked recessive alleles expressed in males are then carried
unexpressed by their daughters in the next generation, to be expressed again in their
sons. Note that III-3 and III-4 cannot be distinguished phenotypically.
Affected males pass the condition on to all their daughters but to none of their sons.
Females married to unaffected males pass the condition on to half their sons and
daughters.
Fig. 1.28
Fig. 1.29
The probability of their having a child with Tay-Sachs can be calculated in the following
way. The question is whether or not the man and woman are heterozygotes (it is clear
that they do not have the disease) because if they are both heterozygotes then they
stand a chance of having an affected child.
The man’s grandparents must have both been heterozygotes T/t because they produced
a t/t child (the uncle). Therefore, they effectively constituted a monohybrid cross. The
man’s father could be T/T or T/t, but we know that the relative probabilities of these
genotypes must be 1/4 and 1/2, respectively (the expected progeny ratio in a
monohybrid cross is 1/4 T/T, 1/2 T/t, and 1/4 t/t). Therefore, there is a 2/3 probability
that the father is a heterozygote [calculated as 1/2 divided by ( + 1/4+1/2)].
The man’s mother must be assumed to be T/T, since she married into the family and
disease alleles generally are rare. Thus if the father is T/t, then the mating to the mother
was a cross T/t × T/T and the expected progeny proportions are 1/2 T/T and 1/2 T/t.
Likewise the probability of the man’s wife being heterozygous is also 1/3.
If they are both heterozygous (T/t), then the probability of their having a t/t child is 1/4,
so overall the probability of the couple having an affected child is
1/3 × 1/3 × 1/4 = 1/36; in other words, a 1 in 36 chance.
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2. AIMS AND OBJECTIVIES
1. To study the inheritance of dominant traits and recessive traits in human population.
Research methodology
Survey method
Questionnaire
Variables
Research methodology
Survey method was followed to predict the dominant and recessive traits by giving
questionnaires to each individual to be filled.
Survey method
A survey was conducted based on the genetic traits as to study the number of dominant
and recessive traits in a particular population belonging to the same region. This survey
was conducted in JBAS College for Women, Teynampet, Chennai-18; Kovur, Chennai-128
and Alandur, Chennai-16. The subjects involved in this survey method were aged
between 17 and 22. Survey was conducted among 300 individuals.
Questionnaire
Name
age
sex
occupation
residential address
mobile number
height
weight
Round/Square
Curly/Straight
Coarse/Fine
Yes/No
Yes/No
Thick/Thin
Roman nose/Straight
Large/Small
Yes/No
Bent/Straight
Straight/Curved
Right/Left
Roller/Non-roller
Yes/No
Yes/No
A or B/O
Positive/Negative
Present/Absent
Large/Small
Yes/No
Yes/No
Yes/No
Variables
Count of Individuals taken for the survey were 300 among which were
Preadolescent, adolescent and aged were present, most of which were Preadolescent.
FACE SHAPE 50 70 56 48
HAIR TYPE 21 24 30 24
HAIRLINE 10 13 16 15
BODY HAIR 12 16 7 13
EYE COLOUR 62 60 64 68
EYE POWER 50 53 65 46
EARLOBES 40 36 39 47
DIMPLES 15 20 10 22
SKIN COLOUR 34 30 28 44
CLEFT CHIN 12 10 8 20
LIP SHAPE 26 33 37 32
NOSE SHAPE 14 21 17 7
NOSE SIZE 20 28 35 17
FRECKLES 12 62 20 11
INTERLOCKED
FINGERS 28 28 47 27
LITTLE FINGER 48 18 23 18
THUMB POSITION 37 30 37 25
HANDEDNESS 70 75 72 72
TOE SIZE 43 38 51 35
ROLLING TONGUE 35 34 24 27
HEIGHT 21 17 30 10
COLOUR BLIND 69 4 14 75
BLOOD GROUP 53 45 47 45
Rh FACTOR 68 73 72 68
METABOLIC
DISORDER 14 10 34 11
EYE SIZE 31 31 33 37
EYEBROWS 13 17 15 15
GAPPED TEETH 12 10 6 35
MOLE 23 23 34 52
INDEX FINGER 42 38 32 37
Table. 1.1
Fig. 1.30
FACE SHAPE 11 15 17 25
HAIR TYPE 53 49 45 55
HAIRLINE 63 58 60 65
BODY HAIR 65 60 59 68
EYE COLOUR 9 5 7 15
EYE POWER 23 20 17 26
EARLOBES 36 31 28 43
DIMPLES 59 55 60 59
SKIN COLOUR 45 39 42 48
CLEFT CHIN 64 61 59 66
LIP SHAPE 49 38 43 42
NOSE SHAPE 61 58 68 54
NOSE SIZE 55 40 58 47
FRECKLES 63 55 64 13
INTERLOCKED
FINGERS 47 28 48 47
LITTLE FINGER 27 52 57 57
THUMB POSITION 38 38 50 45
HANDEDNESS 5 3 3 0
TOE SIZE 32 24 40 37
ROLLING TONGUE 35 51 48 41
HEIGHT 54 45 65 58
COLOUR BLIND 6 1 0 71
BLOOD GROUP 22 28 30 30
Rh FACTOR 7 3 7 2
METABOLIC
DISORDER 61 41 64 65
EYE SIZE 54 42 37 44
EYEBROWS 62 60 60 58
GAPPED TEETH 63 69 40 65
MOLE 52 41 23 52
INDEX FINGER 33 43 28 37
Table. 1.2
Fig. 1.31
DIMPLES 67 233
INTERLOCKED
FINGERS 130 170
HANDEDNESS 289 11
HEIGHT 78 222
Rh FACTOR 281 19
METABOLIC
DISORDER 69 231
EYEBROWS 60 240
Table. 1.3
Fig. 1.32