Saturday July 16, 2022


April 15, 2017

1. Mucopolysaccharidosis Type VII (MPS VII; aka Sly syndrome) is caused by a recessive deficiency in an enzyme responsible for the hydrolysis of proteoglycans. The
lack of this enzyme leads to mild to moderate mental retardation, skeletal irregularities and bouts of recurrent pneumonia. Though it is possible for those affected
by Sly syndrome, most patients do not live past their teenage years, with some not surviving past several months of age. There are no known cases of MPS VII
individuals having reproduced. We will call the associated gene locus the “I” locus. We see that the frequency of MPS VII individuals is 1 per 250,000 in the
population. What is the expected mutation rate that converts the “I” allele into the “i” allele? Show your work. (3 pts)

2. A survey of individuals with MPS VII finds that out of a population of 750 affected individuals, 3 patients showed a novel mutation not found in either parent.
What is the actual mutation rate of the MPS VII “I” allele to the “i” allele? Can mutation alone account for the frequency of the “i” allele? Explain. Show your
work. (5 pts)

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