L28 Genetic analysis of human disease

L28 Genetic analysis of human disease - Genetic Analysis of...

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Genetic Analysis of Human Disease 1
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Last time A new era of Biology Genomics and functional genomics sequencing and microarrays Proteomics : the business end of the cell identifying proteins by 2D gels and mass spec Bioinformatics : the computational approach manipulating and analyzing mass quantities of data 2
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Genetic Analysis of Human Disease How can we determine if a disease is genetic? Recessive disorders Dominant disorders mechanisms of dominant disorders X-linked disorders How can we identify disease causing genes? Genetic testing 3
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Understanding disease to understand gene function mutate gene conclusion about gene function? normal disease 4
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Determining if a disease has a genetic basis Infectious? Family history Identical twins share disease, while fraternal twins may not Corresponds to altered chromosomes? www.sciencemuseum.org.uk 5
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Pedigrees In humans, pedigree analysis replaces genetic crosses in determining inheritance patterns 6
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Tay-Sachs Disease llnw.image.cbslocal.com/30/2008/01/08/320x240/CedieWithTaySachsDisease 7
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Common features of autosomal recessive inheritance 1. Frequently, an affected offspring will have two unaffected parents
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This note was uploaded on 03/29/2009 for the course BIO 325 taught by Professor Saxena during the Fall '08 term at University of Texas at Austin.

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L28 Genetic analysis of human disease - Genetic Analysis of...

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