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Family-Based Linkage Analysis

Genetic association studies may be either family based, or population based (26,27). Family based studies can use transmission disequilibrium tests (TDT), a test that detects association in the presence of linkage. Population-based tests use analysis of variance (ANOVA) among multiple subgroups. The TDT was first proposed by Spielman and Ewens (28). The basic premise of the TDT is that certain alleles at a locus are disproportionately transmitted Irom parents to an affected offspring therefore the basic sampling unit for the TDT is a nuclear family with at least one affected offspring... [Pg.26]

With a clinically proven diagnosis in at least one affected family member, a linkage analysis principally allows to predict the disease status at any time in a person at risk without clinical evidence of the disease. Figure 3.1 illustrates the principles of indirect genotype analysis. Because linkage studies are based on indirect conclusion without knowledge about the responsible mutation itself, this method has major limitations. The most important ones are ... [Pg.68]

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Linkage analysis

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