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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

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 LN 2856 0.452 3071 0.455

Total 6320 6746

Class Allele LM Allele LN

Χ2 = Σ(Ο – E)2/Ε

Observed 3675 3071

children and the parents.

2.

Observed 3675 3071 6746

Expected 3697 3049 6746

• 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

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

= 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)

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

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

= 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.

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.

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