01:119:116 Lecture Notes - Lecture 18: Amniocentesis, Diet Drink, Fetus
10 Mar 2016
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Document Summary
Pedigree analysis: family tree, used by genetic counselors. Fig 14. 15 for pedigree analysis (also check 14. 15b) Allow us to predict the inheritance of phenotypic traits that are controlled by genotype at single locus. Recessively inherited disorders: intro, genes code for proteins each protein has specific function, allele that causes genetic disorder codes for malfunctioning protein or no protein at all, if allele is recessive, heterozygote is usually a normal phenotype. Heterozygote is a carrier for recessive allele: rec. inherited disorders appear only in homozygous recessive people, most people with recessive disorder are born to parents who are carriers. Most human genetic diseases inherited as single-locus autosomal rec. trait: diseases due to autosomal recessive genes, cystic fibrosis, most common lethal genetic disease in u. s. 2 alpha + 2 beta mutation in gene that encodes beta chain. 6th amino acid: glutamic acid valine causes hemoglobin to form crystals. Malaria intracellular parasite of red blood cells. Death symptoms occur over age of 40.
