Ancestry-informative marker

AIMS can be used to identify five European "clusters"

An ancestry-informative marker (AIM) is a set of polymorphisms for a locus, generally from humans, which exhibits substantially different frequencies between populations from different geographical regions.

By using a number of AIMs one can estimate the geographical origins of the ancestors of an individual and ascertain what proportion of ancestry is derived from each geographical region. By using a suite of these markers more or less evenly spaced across the genome, they can be used in a cost-effective way to discover novel genes underlying complex diseases in a technique called admixture mapping or mapping by admixture linkage disequilibrium.

There are an estimated 15 million SNP (Single-nucleotide polymorphism) sites (out of roughly 3 billion base pairs, or about 0.4%) from among which AIMs may potentially be selected.[1]

As one example, the Duffy Null allele (FY*0) has a frequency of almost 100% of Sub-Saharan Africans, but occurs very infrequently in populations outside of this region. A person having this allele is thus more likely to have Sub-Saharan African ancestors.

Collections of AIMs have been developed that can estimate the geographical origins of ancestors from within Europe.[2]


See also

References

  1. ↑ Elizabeth Pennisi, Human Genetic Variation, Science 21 December 2007: Vol. 318. no. 5858, pp. 1842 - 1843 doi:10.1126/science.318.5858.1842
  2. ↑ Bauchet M, McEvoy B, Pearson L, Quillen E, Sarkisian T, Hovhannesyan K, Deka R, Bradley D, Shriver M. 2007. Measuring European population stratification with microarray genotype data. American Journal of Human Genetics 80(5): 948-956. doi:10.1086/513477
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