Question

You may use a calculator for 42 and 43, but not a calculator on your phone. You must write legibly and show your work on the answer sheet to receive credit 41. (6 pts.) Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder that affects approximately one in 100,000 children in the general population. However, in an Ontario Old Order Amish population, there is a population specific mutation that causes nephropathic cystinosis and has an extraordinarily high disease incidence of one in 144 people in this specific population. a) What is the frequency of the nephropathic cystinosis allele in the Ontario Old Order Amish population? b) What is the carrier frequency nephropathic cystinosis in the Ontario Old Order Amish population? **You must show all of your work and put your final answer in the space provided on the answer sheet for full credit.** Frequency of allele nephropathic cystinosis allele in the Amish population: Carrier frequency in the Amish population:

Answer 1

Hardy-Weinberg principle:
p+q = 1
p2+2pq+q2 = 1

WT dominant allele, p = N
Mutant recessive allele, q = n

Frequency of nephropathic cystinosis genotype (nn), q2 = 1/144 = 0.0069
Frequency of nephropathic cystinosis allele (n), q = 0.083
Frequency of WT allele (N), p = 1-0.083 = 0.917
Frequency of heterozygotes (Carriers), 2pq = 2*0.917*0.083 = 0.1522

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