The 81st Annual Meeting of the American Association of Physical Anthropologists (2012)


Anthropological usefulness of forensically useful ancestry (AIM) and phenotype informative markers (PIM)

MOSES S. SCHANFIELD1,2, KATHERINE BUTLER2, MICHELLE PECK2, JESSICA HART2 and DANIELE PODINI2.

1Anthropolgy, George Washington University, 2Forensic Science, George Washington University

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As part of a study of 96 SNPS (53 PIM, 43 AIMs) funded by NIJ to identify eye, hair and skin color and geographic origin the question arose as the anthropological usefulness of these markers.

SNPs were tested in a series of multiplexes using SnapShot® technology on 276 samples with phenotype and ancestry data, 175 individuals with self-identified ancestry, 2783 samples from ALFRED and 1,206 HapMap samples. Complete data was available for African, European, Indian, East Asian, Native American and US Hispanic populations for the AIMs, while Africa, East Asia, European, Indian and Hispanic data was available for PIMs. Though 53 PIM SNPs were tested 2 were monomorphic. Data sets were reduced using Principle Components Analysis and hierarchically clustered using Wards method on a Squared Euclidean distance matrix. Because kits would use a restricted set of SNPs, PCA and cluster analysis were repeated with a subset of 23 AIM and 15 SNPs, with variables chosen by their highest factor loadings.

Results using AIM SNPs yielded and 43 SNP tree that was accurate for Africa, Europe and India but had some problems with East Asia, Native Americans and Hispanics, while the 23 AIM SNP tree accurately classified all populations. In contrast the 51 and 15 SNP PIM trees cluster all non-European populations as separate from Europeans.

Based on the results of this study PIM SNPs present a totally different view of modern human differentiation and may be useful in asking different questions than those traditionally posed regarding human populations.

This research was supported by National Institute of Justice Forensic DNA Research and Development Grant 2009-DN-BX-K178

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