BIOL 1010 Lecture Notes - Lecture 12: Linus Pauling, Sickle-Cell Disease, Hemoglobin
6 Nov 2018
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Observational study of a genome-wide set of genetic variants in di erent individuals to see if any variant is associated with a trait. Gwass typically focus on associations between single- nucleotide polymorphisms (snps) and traits like major human diseases. Gwas only identi es regions of association and causative alleles need to be identi ed. #mendel used patterns of phenotypic inheritance to infer fundamental rules of gene transfer across generations (phenotype level observation). #first genetic maps were based on recombination rates between linked genes). Discovery of hemoglobin phenotype in sickle cell anemia: Linus pauling in1949, identi es distinct hemoglobin phenotype in individuals with sickle cell disease. Plots used to visualize genome wide association study (gwas): 4-ld plots: visualize local patterns of linkage disequilibrium. Non-random association of alleles that descend from single, ancestral chromosomes (i. e. usually close to each other). Combination of alleles at adjacent locations on a chromosome that are inherited together.
