01:119:115 Lecture Notes - Lecture 18: Sickle-Cell Disease, Lethal Allele, Intracellular Parasite
3 Oct 2018
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Genetics scientific study of inherited variation. Difficulties in studying human genetics: few offspring, long generation span (20-30 years, ca(cid:374)"t do e(cid:454)peri(cid:373)e(cid:374)tal (cid:373)ati(cid:374)g (cid:271)et(cid:449)ee(cid:374) i(cid:374)di(cid:448)iduals unethical & illegal. Instead analyze results of mating that have already occurred: pedigree analysis study of family tree, dna sequencing identify order of nucleotides, pedigree analysis. Shows inheritance patterns within the family over several generations. Predict inheritance of phenotypic traits that are controlled by genotype at single locus. Offspring in birth order from left to right. Shaded = having a specific trait being studied: recessively inherited disorders. Many genetic disorders are autosomal recessive. Recessive allele codes for malfunctioning protein or no protein at all. Heterozygote = carrier normal phenotype dominant allele makes enough protein. Gene for beta chain: 6th amino acid = glutamic acid changed to valine forms crystals that cause cells to sickle. Human genetics (chapters 14. 4, 15. 4-5: abnormal red blood cells sickles (1/2 moon) Destroyed o2 being carried decreases; carrying capacity of blood anemia.
