Autosomal recessive disease has carrier frequency of 1/25 in a specific population. What is most likely frequency of individuals expressing the disease in population? Show your work.

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1. Autosomal recessive disease has carrier frequency of 1/25 in a specific population. What is most likely frequency of individuals expressing the disease in population? Show your work.

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1. Chronic granulomatous disease 2. Defective NADPH oxidase
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Answer is 1/2500 How do we get this. Remember Hardy-Weinberg equiliubrium p2 + 2pq + q2 = 1 2pq = 1/25 since 2pq represents heterozygotes So of a parent passing the mutant to an offspring is 1/2 we do: 1/2 times 1/25 = 1/50 and since both parents have to pass the allele to get a mutant homozygote we do 1/50 times 1/50 = 1/2500

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Autosomal recessive disease has carrier frequency of 1/25 in a specific population. What is most likely frequency of individuals expressing the disease in population? Show your work.

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