GENETICS EXTRA CREDIT.doc - Name Linda Abengowe Case Study...

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Name: Linda Abengowe Case Study – TSD The National Center for Biotechnology Information ( NCBI ) is a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The NCBI maintains many enormous databases, including OMIM , a database that contains thousands of entries for genes and genetic disorders, and is frequently updated by NCBI staff based on published work in the scientific community. Another comprehensive database called UniProt contains similar information as OMIM and is supported by a collaboration between the NIH and several European scientific organizations. Both of these sites provide reliable, up-to-date information on genes, mutant alleles, proteins, and genetic disorders which can be easily accessed by science professionals. Recent publications are cross-referenced. Today, you will use OMIM and UniProt to research a genetic disorder, and the mutant protein which causes it. You will then view the 3D protein structures using a simple online resource called Proteopedia . By the end of this activity, you should be able to describe the effect of the common gene mutations on the proteins’ structures and functions, and relate these things to the physiological symptoms of the diseases that are caused by these mutant alleles. What does the acronym “OMIM” stand for? Online Mendelian Inheritance in Man What does “UniProt” stand for? Universal Protein Resource Case Study 1: Tay-Sachs Disease and HEXA Activity Instructions: 1. Go to OMIM. Search OMIM using the keywords “Tay Sachs” a.
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