BIOL-UA 21 Lecture Notes - Lecture 17: Nonsyndromic Deafness, Northern Blot, Southern Blot
11 Nov 2016
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Document Summary
1:1 ratio of affected to unaffected children of a deaf parent. Autosomal dominant: the lines through the symbols indicated dead. Most pedigrees become smaller going back in time. Female offspring in previous generations missing, in most cases: dna from the living people was taken, and markers were looked for that cosegregate with the disease (very close to causative gene). Each marker showed 100% cosegregation with the disease. Within the region, you can"t tell where to causative allele is. The actual allele is somewhere in the middle: genomic libraries using bac was used to identify allele. Bac sequences are lined up against the identi ed region of dna and are analyzed (sites of overlap identi ed). The sequences n this area present in mutants but not in the normal people. In the case of mice, embryos can be taken and in-situ hybridization can be carried out to see where the proteins localized.
