Biology 2581B Lecture Notes - Lecture 11: Myotonic Dystrophy, Restriction Enzyme, Cpg Site
1 Mar 2019
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Document Summary
Genetic variation that would alter the pattern of fragments created when a given restriction enzyme digests dna. Triplet repeats can happen in coding and non-coding: can still mess up the dna if it"s in the non-coding regions. Huntington"s is in the coding region, one disease mechanism = aggregation of proteins - Fragile x: another mechanism = expansion of 5"utr of the fmr gene: results in hypermethylation of cpg island of the gene and knocking out the function of the fmr gene. Myotonic dystrophy: repeats are tin the 3"utr and the disease mechanism = huge expansions that sequester proteins away from normal splicing and resulting in aberrant splicing. One way to detect differences in dna sequence is to detect differences in restriction nuclease enzymes (site specific - recognize protein binding sites in. Dna and cut it: make staggered or blunt cuts. 3 pvull sites, generate 2 fragments, digest to get 2 restriction fragments.
