U.S. flag

An official website of the United States government, Department of Justice.

Analyses of a set of 128 ancestry informative SNPs (AISNPs) in a global set of 119 population samples

NCJ Number
Investigative Genetics Volume: 2 Issue: 1 Dated: 2011
Date Published

This article reports work on a panel of ancestry informative markers (AIMs) composed of 128 ancestry informative single-nucleotide polymorphisms (AISNPs) already proposed in the literature.


Using DNA to determine an individual's ancestry from among human populations is generally interesting and useful for many purposes, including admixture mapping, controlling for population structure in disease or trait association studies and forensic ancestry inference; however, to estimate ancestry, including possible admixture within an individual, as well as heterogeneity within a group of individuals, allele frequencies are necessary for what are believed to be the contributing populations. For this purpose, panels of ancestry informative markers (AIMs) have been developed. Compared to previous studies of AISNPs, the current project studied three times the number of individuals (4,871) in three times as many population samples (119). This panel was validated for many ancestry assignment and admixture studies, especially those that were the rationale for the original selection of the 128 SNPs: African Americans and Mexican Americans. At the same time, the limitations of the panel for distinguishing ancestry and quantifying admixture among Eurasian populations are noted. This project thus demonstrated the simultaneous importance of the specific set of population samples and their relative sample sizes in the use of the structure program to determine which groups cluster together and consequently influence the ability of a marker panel to infer ancestry. It demonstrated the strengths and weaknesses of this particular panel of AISNPs in a global context. (publisher abstract modified)

Date Published: January 1, 2011