Figure 2. Population genetic mapping.

Figure 2

Population genetic mapping. This figure illustrates the principles behind this mapping approach, as applied to an AR disease. A common ancestor, or founder, has introduced a disease mutation into the population. This mutation is represented by the black box on the rectangle representing the chromosomal region in which the mutation occurred. The shaded areas flanking the mutation represent the version of the surrounding chromosomal sequence that was present on the chromosome when it was introduced by the founder, i.e., the ancestral disease-associated haplotype. As the mutation is passed down through the generations, recombination events occur, shrinking the size of this haplotype. The white areas represent those areas that no longer share the ancestral haplotype, due to recombination. Many generations after introduction of the disease mutation into the population, those affected individuals in the population who have inherited the mutation introduced by the common ancestor still share the ancestral haplotype surrounding the disease mutation.

From: Genetics, Mutations, and Polymorphisms

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