BIOB51H3 Lecture Notes - Lecture 5: Cystic Fibrosis, Allele Frequency, Selection Coefficient
4 Jul 2017
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Lec 5 june 12 mendel, populations, and selection. In mice, a = agouti and a = non agouti. It is a spontaneous mutation in these mice and the mouse agouti gives a coat colour phenotype. To get non-agouti mice, you need to have phenotypes aa+aa or aa+aa to get purebred recessive offspring. Cf is an autosomal recessive single gene disease (cfcf) and ncf are carriers for the disease. The omim for cf is 219700 and 602421. Most common severe form of cf patients have a mutation in a gene cystic fibrosis transmembrane conductance regulator (cftr). Cf is recessive so the freq. of this deleterious allele at equilibrium is that q hat = square root of the mutation rate divided by the selection coefficient. q^ = (u s) Function of cftr in ridding cells of bacteria. Bacteria exploits the gate but a mutation in cftr can stop this from occurring. Results: heterozygotes accumulated fewer bacteria than wild type cells.
