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Lecture 43 Prof Duncan Shaw. Alleles & Fitness Fitness means the relative ability of organisms to survive and pass on genes Alleles can affect fitness:

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Presentation on theme: "Lecture 43 Prof Duncan Shaw. Alleles & Fitness Fitness means the relative ability of organisms to survive and pass on genes Alleles can affect fitness:"— Presentation transcript:

1 Lecture 43 Prof Duncan Shaw

2 Alleles & Fitness Fitness means the relative ability of organisms to survive and pass on genes Alleles can affect fitness: –In most cases not at all (neutral) –Sometimes to decrease it (deleterious) –Very rarely to increase it (advantageous) The frequency of alleles in the whole population affects the health of the population, so its important to know about population genetics

3 Calculating Allele Frequencies We have a gene with alleles A and a Count number of individuals in population with each genotype: 300 AA 500 Aa 200 aa Allele frequency of A is (2x )/2000 = 0.55 Allele frequency of a is ( x200)/2000 = 0.45

4 Allele & Genotype Frequencies In previous example, we had 300 AA, 500 Aa, and 200 aa individuals Genotype frequencies are therefore: 0.3 AA 0.5 Aa 0.2 aa Allele frequencies and genotype frequencies are related, but not the same thing

5 The Hardy-Weinberg Law Frequencies of alleles A and a are p and q, respectively (so p + q = 1) Calculation involving a Punnet square shows that genotype frequencies will be: AA p 2 Aa 2pq aaq 2 Also, p 2 + 2pq + q 2 = 1 These frequencies stay the same over time, if population is large, randomly mating, and alleles have same fitness Such a population is in equilibrium

6 Recessive alleles & carrier frequencies For a rare allele, heterozygotes (called carriers if the allele is recessive) are much more frequent than homozygotes: 2pq >>q 2 Cystic fibrosis is caused by a recessive allele and affects 1/1700 Caucasian newborns: q 2 = 1/1700 = q = p = 1 - q = pq = About 1 in 21 Caucasians is a carrier for CF

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8 X - linked genes Males only have 1 copy of each gene on the X chromosome (hemizygous), from mother Therefore, for X-linked genes in males, genotype frequency is the same as allele frequency For rare X-linked recessive alleles, more males than females will be affected Example: X linked colour blindness affects 1/20 males q = 0.05 q 2 = About 1/400 colour-blind females

9 Population Evolution Changes in the gene pool resulting a species adapting to its environment Dependent on genetic variation Driven by natural selection - differences in fitness make better adapted individuals more likely to pass on their genes Can be described in terms of allele frequencies in the population

10 Factors that change allele frequencies Mutation - formation of new alleles, leading to new capabilities of organism Migration - movement of individuals between populations Natural selection - different abilities of organisms to survive and reproduce Genetic drift - in small populations, random changes in allele frequency

11 Heterozygote advantage Sickle-cell anaemia is caused by a recessive allele - homozygotes have reduced fitness (without modern medical care), so it should disappear But heterozygotes have increased fitness - dont have anaemia, but are more resistant to malaria than individuals without allele Distribution of sickle-cell anaemia in the world is similar to that of the malaria parasite, Falciparum

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