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POPULATION
GENETICS
Genotypic and Allelic
Frequencies
Presented by
Swathi Sasidharan
2nd BSC. Biotechnology
Introduction
• Population genetics is the field of biology that studies allele frequencies in populations
and how they change over time.
• Genetic variation in populations can be analyzed and quantified by the frequency
of alleles.
• Two fundamental calculations are central to population genetics: allele frequencies and
genotype frequencies.
• Population genetics examines genetic variation within and between populations, and
changes in allele frequencies across generations.
• Population geneticists use mathematical models to investigate and predict allele
frequencies in populations.
Swathi Sasidharan ,Bsc.Biotechnology
• Allele, also called allelomorph, any one of two or more genes that may occur alternatively at a
given site (locus) on a chromosome.
• Alleles may occur in pairs, or there may be multiple alleles affecting the expression (phenotype)
of a particular trait.
• The combination of alleles that an organism carries constitutes its genotype.
• If the paired alleles are the same, the organism’s genotype is said to be homozygous for that
trait;
• if they are different, the organism’s genotype is heterozygous.
Allele
Swathi Sasidharan ,Bsc.Biotechnology
• Allele frequencies can be represented as a decimal, a percentage, or a fraction.
• Allele frequency refers to how common an allele is in a population. It is determined by
counting how many times the allele appears in the population then dividing by the total
number of copies of the gene.
• Frequency of allele A= Number of copies of given Allele in population.
Sum of counts of all alleles in the population
• In a population, allele frequencies are a reflection of genetic diversity. Changes in
allele frequencies over time can indicate that genetic drift is occurring or that new
mutations have been introduced into the population.
Allelic Frequency
Swathi Sasidharan ,Bsc.Biotechnology
EXAMPLE
• Consider a population with a certain count of AA, Aa ,aa containing diploid
individuals.
• When two alleles are present at a locus ,we can use the following formula to
calculate the allele frequencies :-
p = f(A) = (2 x count of AA) + (count of Aa)
2 x total number of individuals.
Swathi Sasidharan ,Bsc.Biotechnology
Allele Frequencies with Multiple Alleles
Consider three alleles A1,A2 and A3 at a locus ,
To determine allelic frequencies,use the same rule that used with two alleles, add up the
number of alleles of each type and divide by the total number of alleles in the population.
P = f(A1) = (2 x count of A1A1)+ (A1A2) +(A1A3)
(2 x total number of indivduals)
P = f(A2) = (2 x count of A2A2)+ (A1A2) +(A2A3)
(2 x total number of indivduals)
P = f(A3) = (2 x count of A3A3)+ (A1A3) +(A2A3)
(2 x total number of indivduals)
Swathi Sasidharan ,Bsc.Biotechnology
• Genotype frequency in a population is the number of individuals with a
given genotype divided by the total number of individuals in the
population.
• In population genetics, the genotype frequency is the frequency or
proportion (i.e., 0 < f < 1) of genotypes in a population.
• Although allele and genotype frequencies are related, it is important to
clearly distinguish them.
• Genotype frequency may also be used in the future (for "genomic
profiling") to predict someone's having a disease or even a birth defect.
• It can also be used to determine ethnic diversity.
Genotypic Frequency
Swathi Sasidharan ,Bsc.Biotechnology
EXAMPLE:-
• Consider a locus that determines the pattern of spots in scarlet tiger moth,Panaxia dominula.
Three genotypes are present in most populations and each genotype produces a different
phenotype .
• E.B Ford collected moths at one locality in England and found the following numbers of
genotypes: 452 BB, 43 Bb,2bb for a total of 497 moths.
• So the genotypic frequencies are therefore
f(BB) =452/497 =0.909
f(Bb) = 43/497 = 0.087
f(bb) = 2/497 = 0.004 where f = frequency.
Swathi Sasidharan ,Bsc.Biotechnology
References
• https://www.sciencedirect.com/topics/neuroscience/allele-frequency
• https://www.khanacademy.org/science/ap-biology/natural-selection/hardy-weinberg-
equilibrium/a/allele-frequency-the-gene-pool
• https://www.britannica.com/science/allele
• https://www.nature.com/scitable/definition/allele-frequency-298/
• https://en.wikipedia.org/wiki/Genotype_frequency
• https://www.jove.com/science-education/10962/what-is-population-genetics
• PEARSON NEW INTERNATIONAL EDITION ;iGenetics ,A Molecular Approach ,Peter J.Russell,Third
Edition
Swathi Sasidharan ,Bsc.Biotechnology
THANKYOU
Swathi Sasidharan ,Bsc.Biotechnology

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POPULATION GENETICS

  • 1. POPULATION GENETICS Genotypic and Allelic Frequencies Presented by Swathi Sasidharan 2nd BSC. Biotechnology
  • 2. Introduction • Population genetics is the field of biology that studies allele frequencies in populations and how they change over time. • Genetic variation in populations can be analyzed and quantified by the frequency of alleles. • Two fundamental calculations are central to population genetics: allele frequencies and genotype frequencies. • Population genetics examines genetic variation within and between populations, and changes in allele frequencies across generations. • Population geneticists use mathematical models to investigate and predict allele frequencies in populations. Swathi Sasidharan ,Bsc.Biotechnology
  • 3. • Allele, also called allelomorph, any one of two or more genes that may occur alternatively at a given site (locus) on a chromosome. • Alleles may occur in pairs, or there may be multiple alleles affecting the expression (phenotype) of a particular trait. • The combination of alleles that an organism carries constitutes its genotype. • If the paired alleles are the same, the organism’s genotype is said to be homozygous for that trait; • if they are different, the organism’s genotype is heterozygous. Allele Swathi Sasidharan ,Bsc.Biotechnology
  • 4.
  • 5. • Allele frequencies can be represented as a decimal, a percentage, or a fraction. • Allele frequency refers to how common an allele is in a population. It is determined by counting how many times the allele appears in the population then dividing by the total number of copies of the gene. • Frequency of allele A= Number of copies of given Allele in population. Sum of counts of all alleles in the population • In a population, allele frequencies are a reflection of genetic diversity. Changes in allele frequencies over time can indicate that genetic drift is occurring or that new mutations have been introduced into the population. Allelic Frequency Swathi Sasidharan ,Bsc.Biotechnology
  • 6. EXAMPLE • Consider a population with a certain count of AA, Aa ,aa containing diploid individuals. • When two alleles are present at a locus ,we can use the following formula to calculate the allele frequencies :- p = f(A) = (2 x count of AA) + (count of Aa) 2 x total number of individuals. Swathi Sasidharan ,Bsc.Biotechnology
  • 7. Allele Frequencies with Multiple Alleles Consider three alleles A1,A2 and A3 at a locus , To determine allelic frequencies,use the same rule that used with two alleles, add up the number of alleles of each type and divide by the total number of alleles in the population. P = f(A1) = (2 x count of A1A1)+ (A1A2) +(A1A3) (2 x total number of indivduals) P = f(A2) = (2 x count of A2A2)+ (A1A2) +(A2A3) (2 x total number of indivduals) P = f(A3) = (2 x count of A3A3)+ (A1A3) +(A2A3) (2 x total number of indivduals) Swathi Sasidharan ,Bsc.Biotechnology
  • 8. • Genotype frequency in a population is the number of individuals with a given genotype divided by the total number of individuals in the population. • In population genetics, the genotype frequency is the frequency or proportion (i.e., 0 < f < 1) of genotypes in a population. • Although allele and genotype frequencies are related, it is important to clearly distinguish them. • Genotype frequency may also be used in the future (for "genomic profiling") to predict someone's having a disease or even a birth defect. • It can also be used to determine ethnic diversity. Genotypic Frequency Swathi Sasidharan ,Bsc.Biotechnology
  • 9. EXAMPLE:- • Consider a locus that determines the pattern of spots in scarlet tiger moth,Panaxia dominula. Three genotypes are present in most populations and each genotype produces a different phenotype . • E.B Ford collected moths at one locality in England and found the following numbers of genotypes: 452 BB, 43 Bb,2bb for a total of 497 moths. • So the genotypic frequencies are therefore f(BB) =452/497 =0.909 f(Bb) = 43/497 = 0.087 f(bb) = 2/497 = 0.004 where f = frequency. Swathi Sasidharan ,Bsc.Biotechnology
  • 10. References • https://www.sciencedirect.com/topics/neuroscience/allele-frequency • https://www.khanacademy.org/science/ap-biology/natural-selection/hardy-weinberg- equilibrium/a/allele-frequency-the-gene-pool • https://www.britannica.com/science/allele • https://www.nature.com/scitable/definition/allele-frequency-298/ • https://en.wikipedia.org/wiki/Genotype_frequency • https://www.jove.com/science-education/10962/what-is-population-genetics • PEARSON NEW INTERNATIONAL EDITION ;iGenetics ,A Molecular Approach ,Peter J.Russell,Third Edition Swathi Sasidharan ,Bsc.Biotechnology