Solution

ID: past-exam-of-the-mathematics-course-of-the-university-of-cambridge/2003/iii/paper-40/5/i/solution

Genetic linkage analysis asks whether a genetic marker and a disease genetic locus cosegregate within families more often than would be expected under independent assortment. It uses pedigrees and Mendelian segregation to estimate the recombination fraction , with evidence for linkage arising when the data favor . Even when founders are in linkage equilibrium, linked loci can show familial cosegregation.
Genetic association analysis instead asks whether observed allele or genotype frequencies differ with disease status in a sampled population, often comparing cases with controls. It can detect a causal variant or a correlated genetic marker through linkage disequilibrium; population structure and selection can also create association. Linkage is about familial transmission; association is about population dependence. Neither an association alone nor a low family recombination estimate establishes that the marker itself causes disease.

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