GN 301 Lecture Notes - Lecture 6: Congenital Heart Defect, Tamoxifen, Teratology
Document Summary
That usually is genetic (env: lethal or undetectable, mostly recessive, types, point: sub one base pair for another (can lead to aa change) Frameshift: insert/delete base pair (shits everything down and reading frame changed) Sickle cell anemia: hemoglobin, 4 chains of aa ( 2 alpha, 2 beta, mutations in these chains are common. Spontaneous mutations: 1/100,000 per gene per cell, dwarfism occurs in 1 to 7 in 100,000 gametes, hemophilia 2. 5 to 3. 2 in 100,000 gametes, muscular dystrophy 4. 3-10/100,000 gametes, 1/5 gametes will have some type of mutation in some gene. Ldx/y= dose at which x% ppl die in y days: 4. 5 sv lethal at ld50/60, workers monitored, and pregnant women should watch out, environmental effects, carcinogens: physical or chem. That cause change in dna: teratogen: phys. Intellectual disab. , bad mem. , weird face: thalidomide: chemical used to prevent morn. Deprivation: ecogenetics, study of gen. var. and diff.
