HMB265H1 Lecture Notes - Lecture 14: Haplotype, Genetic Screen, Backcrossing

• School: UTSG
• Department: Human Biology
• Course: HMB265H1
• Professor: Maria Papaconstantinou

Document Summary

Hmb265: lecture 14 - genetic mapping & complex traits. Ex: simple mendelian traits in humans (cystic fibrosis, huntington"s disease, haemophilia) Most attributes we have follow complex trait inheritance. Have mutation in gene but it doesn"t result in mutant phenotype. Ex: brca1 mutation that causes predisposition for breast cancer. 66% of women that carry that gene will develop breast cancer but not all of them. Have individuals carrying the mutation but aren"t affected = false-negative. Might get same phenotype for totally different reason. Ex: 3% breast cancer cases women get breast cancer w/o cancer predisposed genes. Can have several genes that when affected result in same gene or phenotype. Groups of organisms where get same outcome but because of different genes. Ex: brca1 (chromosome 17) and brca2 (chromosome 13) both predispose cancer. Cases where we need more than 1 mutation for disease to develop (like cancer) Need several things to happen = need to identify these genes together.