PCL102H1 Lecture Notes - Lecture 6: Human Genome Project, Genetic Disorder, National Institutes Of Health
27 Apr 2016
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Document Summary
The 0. 4% variation is what makes us unique and predisposes us to certain disease. Mapping genes: determining specific location of genes on chromosomes. Genomics study of all genes in a genome, and the interactions between them and their environment. Goals: determine number of genes in human genome sequence entire genome store info in databases freely available to public. 10-20 samples were taken from anonymous donors from across ethnic and racial groups. Sequencing done in multiple centres across the world. Sequencing speed has increased while cost has decreased over the years. Only about 1. 5% of genome encodes for proteins. Prohibits improper use of genetic information (e. g. insurance companies, employers) Important so that patients feel comfortable doing genetic tests. Cystic fibrosis hereditary disease production of abnormally thick mucus, causing serious respiratory and digestive problems caused by mutation in cystic fibrosis transmembrane conductance regulator (ctfr) gene. Ctfr produces protein that is important in creating sweat, digestive juices, and mucous.
