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Process of Evolution in the eyes of Genetics Population Genetics

Population Genetics-2

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Multiple Alleles
Since the 2 allele case is binomial expansion of (p+q)2, Hence for 3 alleles, the case becomes (p+q+r)2More generally,

consider the alleles A1, ... Ai given by the allele frequencies p1 to pi;

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Process of Evolution in the eyes of Genetics Population Genetics

What if its polyploidy?


Consider again only two alleles. The diploid case is the binomial expansion of:

where c is the ploidy, for example with tetraploid (c = 4):

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Process of Evolution in the eyes of Genetics Population Genetics

Inbreeding
Breeding between close relatives. Extreme Self fertilization It will affect the p and q values It decreases heterozygosity Thus it increases homozygous individuals. Inbreeding has severe effects on genetic diseases. Hence, it is prohibited in civilized world.

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Process of Evolution in the eyes of Genetics Population Genetics

Inbreeding Coefficient
Measure of Inbreeding Denoted as F F = Probability that the 2 alleles are identical by descent.

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Process of Evolution in the eyes of Genetics Population Genetics

What is its effect on frequency?


The frequency of Homozygotes Increase The frequency of Heterozygotes Decrease

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Process of Evolution in the eyes of Genetics Population Genetics

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Process of Evolution in the eyes of Genetics Population Genetics

Effective population size (Ne)


All individuals in a population, may not reproduce Thus in next generation allelic frequency changes.. The effective population total individuals involved in reproduction In Panmitic population

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Process of Evolution in the eyes of Genetics Population Genetics

Effective population size (Ne)


For Nomral population : Ration of Male: Female

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Process of Evolution in the eyes of Genetics Population Genetics

Mutation
Mutation is the alteration of the genetic material
It is the source of all new variability in the genome Shows very small quantitative influence on allele and genotype frequencies Mutation rate () = 0.00001 per generation per locus Changes allele frequencies by only about 1/100,000 per generation

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Process of Evolution in the eyes of Genetics Population Genetics

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Types of mutation,
1. Forward mutation: a mutation that changes a gene that makes a functional product into a gene that makes a nonfunctional product 2. Reverse mutation: a mutation that changes a gene that makes a nonfunctional product into a gene that makes a functional product In general, forward mutations occur at a frequency that is at least 10 times that of reverse mutations.

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Process of Evolution in the eyes of Genetics Population Genetics

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If is the forward mutation rate and is v the reverse mutation rate, an equilibrium will be established between these two mutation rates that determines q, the gene frequency of the nonfunctional allele. At equilibrium, q = /(+v)
If v is truly one tenth the frequency of , then qequil = 10/(10+1) or 10/11 =0.90909090909

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Process of Evolution in the eyes of Genetics Population Genetics

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Changes due to Migration


q = m ( q1 q2) q effective frequency m Migration rate q1 frequency in population I q2 frequency in population II

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Process of Evolution in the eyes of Genetics Population Genetics

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Population bottleneck

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Process of Evolution in the eyes of Genetics Population Genetics

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Population bottleneck
It occurs when a population contracts to a significantly smaller size over a short period of time due to some random environmental event. In a true population bottleneck, the odds for survival of any member of the population are purely random, and are not improved by any particular inherent genetic advantage.

The bottleneck can result in radical changes in allele frequencies, completely independent of selection.

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Process of Evolution in the eyes of Genetics Population Genetics

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Inbreeding increases. This increases the damage done by recessive deleterious mutations, in a process known as inbreeding depression. The worst of these mutations are selected against, leading to the loss of other alleles that are genetically linked to them, in a process of background selection. This leads to a further loss of genetic diversity.

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Process of Evolution in the eyes of Genetics Population Genetics

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Founder effect

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Process of Evolution in the eyes of Genetics Population Genetics

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Founder effect
It is a special case of a population bottleneck, occurring when a small group in a population splinters off from the original population and forms a new one. The random sample of alleles in the just formed new colony is expected to grossly misrepresent the original population in at least some respects. It is even possible that the number of alleles for some genes in the original population is larger than the number of gene copies in the founders, making complete representation impossible.

When a newly formed colony is small, its founders can strongly affect the population's genetic make-up far into the future.
Process of Evolution in the eyes of Genetics Population Genetics
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E.g. Amish migration to Pennsylvania in 1744. Two members of the new colony shared the recessive allele for Ellisvan Creveld syndrome. Members of the colony and their descendants tend to be religious isolates and remain relatively insular. As a result of many generations of inbreeding, Ellis-van Creveld syndrome is now much more prevalent among the Amish than in the general population
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Process of Evolution in the eyes of Genetics Population Genetics

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Selection
Certain traits or alleles of genes segregating within a population may be subject to selection. Under selection, individuals with advantageous or "adaptive" traits tend to be more successful than their peers reproductivelymeaning they contribute more offspring to the succeeding generation than others do or are more fit When these traits have a genetic basis, selection can increase the prevalence of those traits, because offspring will inherit those traits from their parents. When selection is intense and persistent, adaptive traits become universal to the population or species, which may then be said to have evolved.

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Process of Evolution in the eyes of Genetics Population Genetics

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Genetic load
Selection can cause the death of some individuals or make them unable to reproduce This cost is called a genetic load

A natural mutation of the gene that codes for myostatin, a protein that counteracts muscle growth. The truncated myostatin is unable to function in this capacity, resulting in accelerated lean muscle growth, due primarily to hyperplasia (increase in no of cells)
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Belgian blue cattle


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Process of Evolution in the eyes of Genetics Population Genetics

Selection coefficient
It is a measure of the relative fitness of a phenotype. Usually denoted by the letter s, If s=0, then the progeny is selectively neutral compared to the favored phenotype, while s=1 indicates complete lethality. For example, if the favored phenotype produces 100 fertile progeny, and only 90 are produced by the phenotype selected against then s = 0.1.

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Process of Evolution in the eyes of Genetics Population Genetics

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Selection against the recessive


Genotype Total Frequency 1.00 Fitness Proportion after selection EE p2 1 p2 Ee 2pq 1 2pq ee q2 1-s q2 (1-s)

New gene frequency of q = pq + q2(1-s) / (1-sq2 ]

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Process of Evolution in the eyes of Genetics Population Genetics

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Fitness
Fitness is measured by the number of offspring produced in the next generation that survive and reproduce Fitness is constant (1-s). That is the opposite of selection, s Genetic load = sq2

Fitness is constant (1-s). 24


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Process of Evolution in the eyes of Genetics

Selection against the recessive:


Formula for s=1
For s=1 No. of generations required to change the allelic frequency q can be calculated. n = 1/qn - 1/q0 Example: Gene frequency changes from 0.01 to 0.005 n = 1/0.005 - 1/0.01 = 200 - 100 = 100 generations It takes 100 generations to change the frequency of a lethal gene from 1 per hundred individual to 5 per thousand individual.

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Process of Evolution in the eyes of Genetics Population Genetics

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Points to remember
Gene frequency Allele frequency Factors affecting allele frequency Hardy-Weinberg theory Genetic Selection Genetic load Fitness

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Next class
Some problems based on these Genetic Relatedness

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