01:119:115 Lecture Notes - Lecture 18: Cystic Fibrosis, Lethal Allele, Extracellular Fluid
24 Dec 2015
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Analyze matings that have already occurred: population studied of large, extended families, human genetic diseases, use of dna sequencing give us understanding of genetic basis. Pedigree analysis: family tree picture of inheritance pattern over several generations [fig. 14. 15 a&b: used by genetic counselors by genotype. Only in homozygous recessive individuals (aa: recessive inherited disorders, most people who have a recessive disorder are born to parents who are carriers. Most human genetic disease is inherited as a single-locus autosomal recessive trait: diseases due to autosomal-recessive genes, cystic fibrosis, most common, lethal disease in us. October 30, 2014 blood cells quaternary structure: most common african descent, caused by one amino-acid substitution in hemoglobin of red. Hemoglobin 4 polypeptide chains, 2 alpha 2 beta, Mutation in gene that encodes the beta chain. 6th amino acid in chain is change from glutamic acid . Causes hemoglobin to form crystals rbc sickle valine (crescent shape) wrong) conditions: abnormal red blood cells.
