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Chapter A, Problem 2P

Go online to the Mendelian Index of Man (OMIM) website. Look up the following genetic conditions and answer the questions posted about them.

a. Look up Tay-Sachs disease (TSD), OMIM number 272800 , and give the name and abbreviation of the affected gene and chromosome location of the gene.

b. Go to the “Population Genetics” section discussing the TSD gene. In few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North America Jews.

c. Look up cystic fibrosis (CF), OMIM 602421 , and give the gene name and abbreviation and chromosome location of the gene.

d. Go to the “Molecular Genetics” section and describe the most common mutation of the CF gene.

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