Ancestry-informative marker

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 sites (out of roughly 3 billion base pairs, or about 0.4%)   from among which AIMs may potentially be selected.

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 gene 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.

Charles Rotimi, of Howard University's National Human Genome Center, is among those who have highlighted the methodological flaws in such research &mdash; that "the nature or appearance of human genetic clustering (grouping) is a function of how populations are sampled, of how criteria for boundaries between clusters are set, and of the level of resolution used" all bias the results &mdash; and concluded that people should be very cautious about relating genetic lineages or clusters to their own sense of identity. (see also Race)