Scientists have found that a rare blood disease is inherited via mutant allele o

Question

Scientists have found that a rare blood disease is inherited via mutant allele on autosomes. A specific population sample, which we will call A, showed that the observed frequency of this disease in 11 per 1000, while the observed frequency in other samples average around 4 per 1000.

a. Assuming that A and the population are in Hardy-Weinberg equilibrium, calculate the frequency of mutant alleles and the frequency of carriers in A and the population.

b.   Provide the most likely explanation for the high frequency of diseased individuals in A, compared to the population.

Explanation / Answer

a) As given in the question A and other population are in Hardy-Weinberg equilibrium. So they will follow:

(p2 + 2pq + q2) = 1

q is the frequency of mutant allele (or recessive allele). So this will be:

For A: q2 = 11/1000

So q = 0.104 ( Which denotes the homozygous recessive or diseased condition)

Therefor p will be : p = 1 - q

p = 1- 0.104

p = 0.896 ( Which denotes the homozygous dominant or normal condition.)

And 2pq will be: 2pq = 2 x 0.896 x 0.104

= 0.186 ( Which denotes the carrier frequency)

Similarly for other population : q2 = 4/1000

   q = 0.064 ( Which denotes the homozygous recessive or diseased condition)

p = 1 - 0.064

   p = 0.937 ( Which denotes the homozygous dominant or normal condition.)

   2pq = 2 x 0.064 x 0.937

2pq = 0.119 ( Which denotes the carrier frequency)

b) As the frequency of mutant allele (which is recessive) is higher in the A than population so their is more frequency of diseased individuals in A.

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