lecture 26 W11 - Lecture 26 (3/18/11) - Gene therapy...

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Today’s topics 1) Summarize how to map a human disease gene 2) Describe some examples of gene therapy in humans and rice 3) Introduce high throughput DNA sequencing (allowing entire genomes to be sequenced). Lecture 26 (3/18/11) - Gene therapy
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Molecules; Chemical bonds; Free energy Lipids Amino acids nucleotides carbohydrates membranes proteins Membrane transport Membrane proteins cytoskeleton enzymes DNA RNA Metabolism Sugar transport Electrolyte transport Kidney Nerve cells Transporters and pumps Receptors Cell-cell communication Chemical signaling development Replication transcription translation Glycolysis Fermentation Krebs cycle Photo- Synthesis & Calvin cycle Cell cycle Regulation of transcription biotechnology genomics Microbes Biology 172 flowchart (lecture 26) cancer epigenetics
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How Was the Huntington’s Disease Gene Found? Huntington's disease is a rare but devastating genetic illness. An analysis of pedigrees from families affected by the disease suggested that the trait results from a single, autosomal dominant allele. A genetic map (or linkage map ) was used to localize the Huntington's gene relative to other genetic markers (a gene that has been mapped previously).
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The availability of hundreds of genetic markers spread throughout the human genome makes it possible to map the Huntington’s gene by finding which genetic marker is most closely linked to the occurance of the disease. The genetic markers used are Restriction fragment length polymorphisms (RFLPs) are differences between chromosomes that are measured as the presence or absence of a restriction endonuclease recognition site.
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RFLPs
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Chr 4 Chr 17 Chr 5 RFLP A multigenerational family where 19 individuals of 39 had HD were analyzed to determine whether a RFLP at a particular location correlated with the incidence of HD (4/19) (6/19) (5/19) (5/19) (6/19) (5/19) (7/19) (4/19) (5/19) (8/19) (10/19) (14/19) (19/19)
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Obtaining a good linkage data requires large families with good medical records where individuals in the family are willing to supply material for DNA analysis. The pedigree below has seven generations where disease incidence is known and more than three generations where DNA analysis has been performed.
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The Huntington's disease gene was localized to
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This note was uploaded on 02/13/2012 for the course BIO 172 taught by Professor Clark during the Winter '08 term at University of Michigan.

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lecture 26 W11 - Lecture 26 (3/18/11) - Gene therapy...

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