ANTB15H3 Lecture Notes - Effective Population Size, Brca2, Brca1
Document Summary
Tay-sachs disease: genetic condition, passed on from family members to their children, why carry a gene that"s. Why tay sachs has received so much attention. Child dies usually at 4,5,6th year of life. You can do biological screening -> ethical dilemma. If both husband and wife are carriers of the disease, there"s of a chance of producing a child with ts-v. Factors responsible for ethnic variation in disease rates. Bias of ascertainment problems in determination of rates. Cultural factors: culture may play a role, even though it"s a genetic disease. Why the higher rate of ts among the jews: differential mutation mutation would have to be 80x higher, ascertainment bias. Jews seeks physicians care more often than non-jews (macmahon & koller 1957) Two theories that have been forth: selection: natural selection, random genetic drift. All involve defects in degradation of sphingo-lipids (class of lipids in central. Accumulate in the brain & neural tissue.