MGY299Y1 Lecture Notes - Fanconi Anemia, Candidate Gene, Mitomycins
3 Jun 2013
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Mendelian trait specific inheritance pattern relatively easy to follow . Categorize disease gene finding two or three categories . Functional cloning do nt use genome to find gene; use particular aspect of trait property. Nature of work involved for each given disease, Rescue cells deficient hypothesize something might be true and look for it. No assay to distinguish between wild type and disease gene. Similar gene on chromosome 1 after finding the one on 14 related thought overlapping function . Positional candidate gene idea of location in genome that get from genetic studies. To locate a gene marker denser physically mapping them so know which markers take along chromsomes identify location with five families . All the genes in the region are candidates based on position hence the term positional candidates. Some diseases due to alternate splicing particular disease. Have a little bit more evidence frequency of observation. Some aberrations appear to be aberrations but have no clinical consequence.
