The document discusses the Hardy-Weinberg principle, which states that allele and genotype frequencies in a population will remain constant from generation to generation if the population meets certain assumptions. These assumptions are that there is no natural selection, mutation, migration, genetic drift, or non-random mating occurring. The principle demonstrates that Mendelian inheritance in diploid populations will maintain genetic variation in the absence of evolutionary forces.
ASSORTIVE MATING AND GENE FREQUENCY CHANGES (POPULATION GENETICS)316116
This slide briefly the explanation of random mating as deviation from the Hardy-Weinberg equilibrium and also the changes in gene frequency as a result of violation of Hardy-Weinberg assumptions on gene frequency
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
ASSORTIVE MATING AND GENE FREQUENCY CHANGES (POPULATION GENETICS)316116
This slide briefly the explanation of random mating as deviation from the Hardy-Weinberg equilibrium and also the changes in gene frequency as a result of violation of Hardy-Weinberg assumptions on gene frequency
It is the fundamental law of population genetics and provides the basis for studying Mendelian populations ( Mendelian population: A group of sexually inbreeding organisms living within a circumscribed area). It describes populations that are not evolving.
Cross- pollinated crops are highly heterozygous due to the free intermating among their plants. They are often referred to as random mating populations because each individual of the population has equal opportunity of mating with any other individual of that population. Such a population is also known as Mendelian population or panmictic population. A population, in this case, consists of all such individuals that share the same gene pool, i.e., have an opportunity to intermate with each other and contribute to the next generation of the population. To understand the genetic make - up of such populations a sophisticated field of study, population genetics, has been developed. The Hardy Weinberg law states that in a large random mating population gene and genotype frequency remain constant generation after generation unless there is selection, mutation, migration or random drift. This is the fundamental law of population genetics and provides the basis for studying Mendelian populations. The law is proposed independently by G. H. Hardy (a mathematician) and W. Weinberg (a physician).
Take the basic Hardy-Weinberg Equilibrium equation, where there are a.pdfrohit219406
Take the basic Hardy-Weinberg Equilibrium equation, where there are alleles A and B. If the
frequency of the two alleles are represented by p and q, then the expected genotypic frequencies
are p2 2pq q2. Please review your comfort with calculating observed and expected allele and
genotype frequencies. Try adding subscripts to the equation for relative fitness (use w) to predict
change in allele frequency due to selection. Both inbreeding and genetic drift can cause problems
for rare species with declining population size due to reducing genetic diversity. Please contrast
(say how they are different these two forces in terms of number of alleles at a locus (some loci
have more than two alleles) and in terms of average heterozygosity at a locus. In most organisms
most mating is local. If populations of an organism are scattered across a landscape, with gaps
between population, how will that affect inbreeding and expected Hardy Weinberg equilibrium?
Solution
Both inbreeding and genetic drift can cause problems for rare species with declining population
size due to reducing genetic diversity. Please contrast (say how they are different) these two
forces in terms of number of alleles at a locus (some loci have more than two alleles) and in
terms of average heterozygosity at a locus. In most organisms most mating is local. If
populations of an organism are scattered across a landscape, with gaps between population, how
will that affect inbreeding and expected Hardy-Weinberg equilibrium? If migration among
populations increases how will it affect inbreeding and expected hardy-Weinberg equilibrium?
P^2 = homozygous dominant
2pq =heterozygotes
Q^2= homozygous recessive
According to hardy Weinberg
P^2 +2pq + Q^2 =1
p = p2 + ½ (2pq) = p2 + pq
q = q2 + ½ (2pq) = q2 + pq
p + q = 1
(p + q)2 = 1
p2 + 2pq + q2 = 1 (the Hardy-Weinberg Principle)
Inbreeding can be referred as the mating between closely related organisms.
Inbreeding favors homozygosity, and increase q^2 (recessive homozygotes) and decreases
dominant phenotypes
It will increases the chances of offspring being affected by recessive or lethal traits.
Genetic bottlenecks and founder effects occurs in the population
Leads to
Hence population will be deviated from hardy-Weinberg equilibrium.
Cross- pollinated crops are highly heterozygous due to the free intermating among their plants. They are often referred to as random mating populations because each individual of the population has equal opportunity of mating with any other individual of that population. Such a population is also known as Mendelian population or panmictic population. A population, in this case, consists of all such individuals that share the same gene pool, i.e., have an opportunity to intermate with each other and contribute to the next generation of the population. To understand the genetic make - up of such populations a sophisticated field of study, population genetics, has been developed. The Hardy Weinberg law states that in a large random mating population gene and genotype frequency remain constant generation after generation unless there is selection, mutation, migration or random drift. This is the fundamental law of population genetics and provides the basis for studying Mendelian populations. The law is proposed independently by G. H. Hardy (a mathematician) and W. Weinberg (a physician).
Take the basic Hardy-Weinberg Equilibrium equation, where there are a.pdfrohit219406
Take the basic Hardy-Weinberg Equilibrium equation, where there are alleles A and B. If the
frequency of the two alleles are represented by p and q, then the expected genotypic frequencies
are p2 2pq q2. Please review your comfort with calculating observed and expected allele and
genotype frequencies. Try adding subscripts to the equation for relative fitness (use w) to predict
change in allele frequency due to selection. Both inbreeding and genetic drift can cause problems
for rare species with declining population size due to reducing genetic diversity. Please contrast
(say how they are different these two forces in terms of number of alleles at a locus (some loci
have more than two alleles) and in terms of average heterozygosity at a locus. In most organisms
most mating is local. If populations of an organism are scattered across a landscape, with gaps
between population, how will that affect inbreeding and expected Hardy Weinberg equilibrium?
Solution
Both inbreeding and genetic drift can cause problems for rare species with declining population
size due to reducing genetic diversity. Please contrast (say how they are different) these two
forces in terms of number of alleles at a locus (some loci have more than two alleles) and in
terms of average heterozygosity at a locus. In most organisms most mating is local. If
populations of an organism are scattered across a landscape, with gaps between population, how
will that affect inbreeding and expected Hardy-Weinberg equilibrium? If migration among
populations increases how will it affect inbreeding and expected hardy-Weinberg equilibrium?
P^2 = homozygous dominant
2pq =heterozygotes
Q^2= homozygous recessive
According to hardy Weinberg
P^2 +2pq + Q^2 =1
p = p2 + ½ (2pq) = p2 + pq
q = q2 + ½ (2pq) = q2 + pq
p + q = 1
(p + q)2 = 1
p2 + 2pq + q2 = 1 (the Hardy-Weinberg Principle)
Inbreeding can be referred as the mating between closely related organisms.
Inbreeding favors homozygosity, and increase q^2 (recessive homozygotes) and decreases
dominant phenotypes
It will increases the chances of offspring being affected by recessive or lethal traits.
Genetic bottlenecks and founder effects occurs in the population
Leads to
Hence population will be deviated from hardy-Weinberg equilibrium.
allele distributionIn population genetics, allele frequencies are.pdfaparnaagenciestvm
allele distribution:
In population genetics, allele frequencies are used to describe the amount of variation at a
particular locus or across multiple loci. When considering the ensemble of allele frequencies for
a large number of distinct loci, their distribution is called the allele frequency spectrum.
Distribution of Allele Frequency
Investigation of the distribution of minor-allele frequencies (MAF) suggests that for all traits,
except possibly for HDL level, the distribution of observed susceptibility SNPs is skewed toward
higher minor-allele frequencies (MAF >20%) rather than intermediate frequencies (MAF
5–20%) in comparison with SNP allele-frequency distributions in general human populations or
among tagging SNPs that have been included in common genotyping platforms. Overall, out of
387 SNPs included in the analysis for all traits combined, the fraction of SNPs with intermediate-
frequency categories was only 23.0%, which was significantly lower than the corresponding
fraction of 55.0% among independent representative SNPs (any pairwise r2 0.1) from the
HapMap (hapmap.ncbi.nlm.nih.gov) database (P = 2.05 × 1030). The power-weighted analysis
also estimated a relatively small fraction (26.4%) of susceptibility SNPs for the intermediate-
frequency category, and thus indicated that the observed clustering of common susceptibility
SNPs toward higher frequencies is unlikely to have resulted from the artifacts of study power.
Distribution of Effect Sizes for Susceptibility SNPs.
We define “effect size” for susceptibility SNPs using two alternative criteria. In one, we define it
as the coefficient () for a SNP when its association with the outcome is modeled through a
regression model, such as linear regression for a quantitative trait or logistic regression for a
qualitative trait, assuming a linear trend per copy of an allele. In our analysis, the regression
coefficients for quantitative traits are presented in units of standard deviation (SD) of the trait so
that they are comparable across traits. In a second criterion, we define effect size as the
contribution of the SNP to genetic variance of the trait, that is, gv = 22f(1 f), where f is the allele
frequency for either of the two SNP alleles (4). It is noteworthy that the power for detection of a
susceptibility SNP for most commonly used association tests that assume linear trend depends on
and f only through the quantity gv (4)
Determining allele and genotype frequencies can be done two slightly different ways. One
method involves converting the initial numbers of each genotype to frequencies and then doing
all calculations as frequencies. In this case the frequency of the p allele = the frequency of the
p/p homozygotes + 1/2 the frequency of the heterozygotes. The frequency of the q allele = the
Determining allele and genotype frequencies can be done two slightly different ways. One
method involves converting the initial numbers of each genotype to frequencies and then doing
all calcul.
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2. The Hardy-Weinberg Principle.
The Hardy-Weinberg principle deals with Mendelian genetics in the
context of populations of diploid, sexually reproducing individuals. Given
a set of assumptions, this theorem states that:
1. allele frequencies in a population will not change from generation
to generation.
2. if the allele frequencies in a population with two alleles at a locus
are p and q, then the expected genotype frequencies are p2,
2pq, and q2. This frequency distribution will not change from
generation to generation once a population is in Hardy-Weinberg
equilibrium.
3. The conclusions of the Hardy-Weinberg principle
apply only when the population conforms to the
following assumptions:
1. Natural selection is not acting on the locus in question (i.e., there are no consistent differences in
probabilities of survival or reproduction among genotypes).
2. Neither mutation (the origin of new alleles) nor migration (the movement of individuals and their
genes into or out of the population) is introducing new alleles into the population.
3. Population size is infinite, which means that genetic drift is not causing random changes in allele
frequencies due to sampling error from one generation to the next. Of course, all natural
populations are finite and thus subject to drift, but we expect the effects of drift to be more
pronounced in small than in large populations.
4. Individuals in the population mate randomly with respect to the locus in question. Although
nonrandom mating does not change allele frequencies from one generation to the next if the other
assumptions hold, it can generate deviations from expected genotype frequencies, and it can set
the stage for natural selection to cause evolutionary change.
4. Hardy-Weinberg equilibrium.
- If the frequency of allele A in the population is p and the frequency of allele a in
the population is q, then the frequency of genotype AA = p2, the frequency of
genotype Aa = 2pq, and the frequency of genotype aa = q2. If there are only two
alleles at a locus, then p + q , by mathematical necessity, equals one.
- The Hardy-Weinberg genotype frequencies, p2 + 2pq + q2, represent the
binomial expansion of (p + q)2, and also sum to one (as must the frequencies of
all genotypes in any population, whether it is in Hardy-Weinberg equilibrium). It
is possible to apply the Hardy-Weinberg Theorem to loci with more than two
alleles, in which case the expected genotype frequencies are given by the
multinomial expansion for all k alleles segregating in the population: (p1 + p2 + p3
+ . . . + pk)2.
6. The Hardy-Weinberg Theorem demonstrates that Mendelian loci segregating for multiple alleles in diploid
populations will retain predictable levels of genetic variation in the absence of forces that change allele
frequencies. A common way of visualizing these expectations is to plot p2, 2pq and q2 as a function of
allele frequencies. This graphical presentation emphasizes two important consequences of the Hardy-
Weinberg principle:
1. Population heterozygosity (the frequency of heterozygotes) is highest when p = q = 0.5.
2. Rare alleles are found primarily in heterozygotes, as they must be, given that q2 is much
smaller than 2pq when q is near zero, and p2 is much smaller than 2pq when p is near zero.
