Problem Set 5 - Problem Set 5 Genetics 0350 Due at 9:30 am...

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Problem Set 5 Name: ANSWER KEY Genetics 0350 Due March 27, 2008 at 9:30 am 15 point total The Online Inheritance in Man (OMIM) database at the National Center for Biotechnology Information (NCBI) provides information on the occurrence and impact of mutant alleles that cause aberrant human phenotypes. This exercise will show you how to use the online version of OMIM to investigate the cystic fibrosis phenotypes caused by different mutations at the CFTR locus that encodes the cystic fibrosis transmembrane conductance regulator protein. The exercise will also demonstrate the use of NCBI’s Single Nucleotide Polymorphism (SNP) database as a tool for genotype analysis. To access OMIM, go to the main NCBI website ( ), and click the OMIM tab along a horizontal line of tabs near the top of the window. The OMIM home page will appear. Near the top is a search window where you can type in disease names, gene names, gene symbols or any other word or terms associated with a human locus or trait of interest. Begin this exercise by entering the search term “cystic fibrosis” (be sure to surround the input term with double quotes, as shown, to limit your search to records that contain the two words together). In response to your query, OMIM will return a list of records that contain any mention of the input phrase. Each record is associated with a unique identifying number; the number may be preceded with a symbol (*, #, %, or ^). By clicking on the identifier link, you can open a page with a detailed narrative description of the locus, gene, or trait, along with links to citations and related data. Please type your answers into this document (they will come up in italics) and then print out. 1a. At the top of the list of records containing “cystic fibrosis” are two records called *602421 and
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Problem Set 5 - Problem Set 5 Genetics 0350 Due at 9:30 am...

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