MCB 2050 Lecture Notes - Lecture 5: Polyglutamine Tract, Trinucleotide Repeat Disorder, Huntingtin

• School: University of Guelph
• Department: Molecular and Cellular Biology
• Course: MCB 2050
• Professor: Dick Mosser

Document Summary

= 11-34 cag repeats: repeat number in mhtt is correlated with age of onset an severity of degeneration, cag encodes glutamine, htt generates a polyglutamine tract in huntingtin protein, misfolding leads to mhtt aggregation and loss of neurotransmission. Testing for the expanded trinucleotide repeat regions in the huntingtin gene (htt) by pcr: amplify repeat region by pcr using primers that flank the cag repeats, determine repeat number by separating products on a gel. Phenotypes: salty sweat, accumulation of mucus in lungs, pancreas and liver, susceptible to lung infections. The cftr gene: encodes an ion channel protein, cftr (cystic fibrosis transmembrane conductance. In cf, inadequate export of cl- and water. Chromosomal walk/jump molecular hybridization-based strategy to physically map a chromosomal region and order a series of contigs. Adding a normal (wild-type) copy of a gene to the genome of an individual carrying a defective copy.