Concept explainers
Go to the OMIM website (http://www.ncbi.nlm.nih.gov/ omim) and locate the Search button at the top of the page. Use the Search function to look up, one by one, the following three human hereditary diseases that are relatively common in certain populations: “Tay–Sachs disease” (select OMIM number 272800 from the search results list); “cystic fibrosis” (select OMIM number 602421 from the search results list); and “sickle cell anemia” (select OMIM 603903 from the search results list). For each of these diseases, look through the information and provide the following details:
a. On which chromosome is the gene for the disease located?
b. What gene is mutated in the disease?
c. Briefly describe the disease.
d. In which population(s) does the disease most commonly occur?
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Genetic Analysis: An Integrated Approach (3rd Edition)
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