Lecture 26 W11 - Lecture 26 Notes I Mapping the gene...

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Lecture 26 (3-18-10) Notes I. Mapping the gene responsible for Huntington’s disease HD) A. Disease is characterized by a progressive neurodegeneration 1. runs in families as an autosomal dominant trait B. Use of polymorphisms to localize the HD gene in humans 1. A polymorphism is a region of the genome where different individuals have different sequences. 2. One type of polymorphism is a restriction fragment length polymorphism (RFLP), which a sequence polymorphism creates or removes a site for a restriction enzyme 3. Researchers collected hundreds of RFLPs in a large family with HD. 4. They then painstakingly mapped the frequency of the RFLPs in the family. 5. The closer a RFLP maps to the HD, the better the correlation between the presence of a particular RFLP and HD. C. Linkage to a particular RFLP led to the identification of the gene that was altered in HD individuals 1. Individuals without symptoms have 11-25 copies of a CAG codon in the Huntington protein. 2. Affected individuals have over 40 CAG repeats, causing the protein to misfold and malfunction, leading to death of neurons in the brain.
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