Hurler syndrome is an autosomal recessive disease caused by a deficiency of the

Question

Hurler syndrome is an autosomal recessive disease caused by a deficiency of the enzyme alphaLiduronidase. Affected individuals are mentally retarded, and they have skeletal abnormalities and short stature. The population incidence is about 1 in 90,000.  

a. Calculate the allelic and genotypic frequencies for the disease assuming HardyWeinberg equilibrium. Show your work and express your answer to three significant figures.

b. What would be the increased risk of Hurler syndrome among the offspring of firstcousin matings? Show your work and express your final answer to three significant figures.   

Explanation / Answer

a) The Hardy-Weinberg equation

     p2+ 2pq +q2

q2    the genotypic frequency = 1/90000

                                         =0.000011

Therefore the allelic frequency (q)=0.00331

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