2) Tay-Sachs disease is an autosomal recessive neurological disorder that is fatal in infancy. Despite its invariably lethal effect, Tay-Sachs disease occurs at very high frequency in some Central and Eastern European (Ashkenazi) Jewish populations. In certain Ashkenazi populations, 1 in 1000 infants has Tay-Sachs disease. Population biologists believe the high frequency is a consequence of genetic bottlenecks caused by pogroms (genocide) that have reduced the population multiple times in the last several hundred years.
a) In the population described, what is the frequency of the recessive allele that produces Tay-Sachs disease?
b) Assuming mating occurs at random in this population, what is the probability a couple are both carriers of Tay-Sachs disease?
Normal allele = T
Tay sach allele = t
Frequency of population with this disease = 1/1000
Genotypic frequency = tt = 1/1000 = 0.001
Allelic frequency of t = √0.001 = 0.0316
Allelic frequency of T = 1 - 0.0316 = 0.9684
Frequency of carriers = Tt = 2 × 0.0316 × 0.9684 = 0.0612
Probability that both individuals of a couple are carriers = 0.0612 × 0.0612 = 0.00374
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