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Pam, who has sickle cell anemia, is married to Jim, who is healthy. Jim’s parents are...

  1. Pam, who has sickle cell anemia, is married to Jim, who is healthy. Jim’s parents are also healthy and he has two older sisters and an older brother; all healthy individuals. Pam’s parents are healthy as is one of her younger brothers, but her youngest brother also has sickle cell anemia. Jim and Pam have a set of identical twin daughters who both have sickle cell anemia.
    1. The prevalence of this disease is 1 in 365 African-American births in the US. Estimate the genotypic frequencies in this population if the locus was in Hardy-Weinberg equilibrium.
    2. Based on your knowledge of this disease, do you think the population would be in Hardy-Weinberg equilibrium? Why or why not? If not, what evolutionary force do you think would have the largest effect?
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Answer #1

From the family information it is clear that sickle cell Anemia is autosomal recessive as it is happening in both sexes and in 3:1 ratio around.

Since this disease happens in 1 in 365 and given it is in hardy Weinberg equilibrium. Then - genotypic frequency will be 1/365 = 0.0027 as 1 person having sickle cell Anemia must have genotype of (ss) rather than SS or Ss , thus having 2 recessive alleles in one individual.

According to my knowledge of disease this would not be in hardy Weinberg equilibrium because of many evolutionary effects would be playing here like-

1) migration

2) non random mating happening in modern society and selective mating to avoid disease.

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