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Population Genetics

1. Hardy-Weinberg’s law.
2. Allele frequency can be obtained in 2 ways: from the
population and from Hardy-Weinberg’s formula.
3. At equilibrium, genotype frequencies can be
determined by Hardy-Weinberg’s formula.
4. Factors influencing allele and genotype frequency.
Population Genetics
It is the study of the genetic composition of a given
population and the factors affecting its allele
frequency.
Population: A group of individuals of the same
species in a defined location.
Gene pool: The total sum of all genes in a
population.
Hardy-Weinberg Law

Allele frequency will remain unchanged from


generation to generation
and genotype frequency will be in equilibrium
in the absence of migration, selection, mutation,
random genetic drift and nonrandom mating.
The relationship between allele frequency and
genotype frequency as given by Hardy-
Weinberg is:
if p is the frequency of alel A
and q is the frequency of alel a,
then the frequency of genotype AA is p2
the frequency of genotype Aa is 2pq
and the frequency of genotype aa is q2
MN Blood Group - Codominance
Parents Children
Number Frequency Number Frequency
M 948 1024 0.304
MN 1568 1627 0.482
N 644 722 0.214
Total 3160 3373

Allele LM 3464 0.548 3675 0.545


Allele LN 2856 0.452 3071 0.455
Total 6320 6746
Class Allele LM Allele LN
Χ2 = Σ(Ο – E)2/Ε
Observed 3675 3071

1. Null hypothesis: No difference between the allele frequencies of the


children and the parents.
2.

Class Allele LM Allele LN Total


Observed 3675 3071 6746
Expected 3697 3049 6746

∀ Χ2 = (3675-3697)2/3697 + (3071-3049)2/3049 = 0.14 + 0.16 = 0.30.


• From the Χ2 table, Χ2 at the 5% level with 1 degree of freedom is 3.84.
• The null hypothesis is accepted, i.e. the is no difference in the LM and
LN frequencies between the children and the parental populations.
Class LMLM LMLN LNLN LM LN
Observed 948 1568 644 0.548 0.452

• Null hypothesis: Genotypic frequency LMLM, LMLN, LNLN is in


accordance with the formula p2, 2pq, q2 where p is the frequency of
allele LM and q is the frequency of LN.
2. Class LMLM LMLN LMLN Total
Observed 948 1568 644 3160
Expected 949 1565 646 3160

∀ Χ2 = (948-949)2/949 + (1568-1565)2/1565 + (644-646)2/646


= 0.001 + 0.005 + 0.006 = 0.01.
• From the Χ2 table, Χ2 at the 5% level with 2 degrees of freedom is 5.99.
• The null hypothesis is accepted, i.e. genotypic frequency LMLM, LMLN,
LNLN is in accordance with the formula p2, 2pq, q2 .
Ability to taste PTC – Complete dominance
541 students: 420 are tasters (TT or Tt), 121 are non-tasters (tt)

This example cannot be used to show Hardy-Weinberg’s principle


because T is completely dominant over t and thus we cannot
determine the frequency of allele T and t.
However, we can use Hardy-Weinberg’s formula to calculate allele
frequencies and genotype frequencies.
Frequency of genotype tt (q2) = 121/541 = 0.22
Frequency of allele t q = √0.22 = 0.47
Frequency of allele T p = 1-q = 1 - 0.47 = 0.53
Frequency of genotype TT (p2) = 0.532 = 0.28
Frequency of genotype Tt (2pq) = 2 x 0.53 x 0.47 = 0.50
Human Blood Group - Multiple Allele
Frequency allele IA is p, IB is q and io is r.
Phenotype Genotype Freq Frequency of group O is r2
A IAIA p2 r2 = 0.444
IAio 2pr
r = √0.444 = 0.666
B II B B
q
2

IB i o 2qr Next we work out frequency of IA


AB IAIB 2pq Frequency of A + O = IAIA + IAio + ioio
O i o io r2 = p2 + 2pr + r2
= (p + r)2
Phenotype Number Freq (p + r)2 = 0.418 + 0.444= 0.862
A 9943 0.418 p+r = √0.862 = 0.928
B 2379 0.100
p = 0.928 – 0.666 = 0.262
AB 904 0.038
For IB, (p + q + r) =1
O 10561 0.444
q =1–p–r
Total 23787 1
= 1 – 0.262 – 0.666
q = 0.072
1. Random mating
1. Migration
Migration can change the allele frequencies of a
population if the allele frequencies of the migrant
population is different from that of the original
population.
Freq. A Freq. a
Original popn. p1 q1
Migrant p2 q2

m Freq. A = mp2 + (1-m)p1


= p1 + m(p2-p1)
1. Selection
This is the major force that shifts allele frequency.

AA Aa aa Total
No. of progenies in one gen. 45 40 15 100
No. of progenies in the next gen. 90 80 25 195
Progeny/individual 90/45=2.0 80/40=2.0 25/15=1.7
Strength (w) 2.0/2.0=1.0 2.0/2.0=1.0 1.7/2.0=0.9
4. Mutation
This is a process of changing one form of an allele into
another. This creates new alleles of a gene. Mutation
isn’t a major factor, because it happens very rarely that
the frequency of the new allele would be negligible
unless other forces, such as natural selection, come into
play.

For example, if one person in a population of 1 million


experiences a mutation in one copy of a gene, the
frequency of that new allele would be 1 in 2 million, or
0.0000005.
1. Random Genetic Drift
This is a situation that may occur in a small population.
It is simply random fluctuations in allele frequency due
to chance deviation.
In statistical terms, the standard error (s) in a small
sample is larger that that of a large sample.
As an example, let us look at two populations, one with
50,000 individuals and the other with 50 individuals.
In both populations, frequency of allele A is p and
frequency of allele a is q.
s = √pq/n (n = total no. alleles)
Population 1 (50,000) s = √0.24/100,000 = 0.00155
Population 2 (50) s = √0.24/100 = 0.049
Population Genetics

1. Hardy-Weinberg’s law.
2. Allele frequency can be obtained in 2 ways: from the
population and from Hardy-Weinberg’s formula.
3. At equilibrium, genotype frequencies can be
determined by Hardy-Weinberg’s formula.
4. Factors influencing allele and genotype frequency.