With these simple tools, we can look at populations to see if they conform to these numerical patterns. If they differ, we seek the reasons for the difference in some violation of the Hardy-Weinberg assumptions. Two processes, natural selection and genetic drift, are the most common and important factors at work in most populations that are not at equilibrium.
For example, suppose we find a population in which the recessive allele frequency is declining over time. We might then investigate whether homozygous recessives are dying earlier. (Many genetic diseases, such as cystic fibrosis, are due to recessive alleles.) This could be due to natural selection, in which those that are better adapted to the environment survive longer and reproduce more frequently.
Or suppose we find a population in which there is a smaller-than-expected number of homozygotes of both types, and a larger number of heterozygotes. This could be due to heterozygote superiority—where the heterozygote is more fit than either homozygote. In humans, this is the case for the allele causing sickle cell disease, a type of hemoglobinopathy.
Nonrandom mating is another potential source of departure from the Hardy-Weinberg equilibrium. Imagine that two alleles give rise to two very different appearances. Individuals may choose to mate with those whose appearance is closest to theirs. This may lead to divergence of the two groups over time into separate populations and perhaps ultimately separation into two species.
CALCULATING ALLELE FREQUENCIES AND GENOTYPES FROM THE OBSERVED FREQUENCY OF HOMOZYGOUS RECESSIVES
B: dominant allele frequency. b: recessive allele frequency. b = (observed homozygote recessive frequency)172. B = 1 - b.
B x b = expected frequency of heterozygotes in the population. B2 = expected frequency of homozygous dominants in the population.
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