U.S. flag

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

Ancestry Inference of 96 Population Samples Using Microhaplotypes

NCJ Number
International Journal of Legal Medicine Volume: 132 Issue: 3 Dated: 2018 Pages: 703-711
Date Published
9 pages

As part of the discovery phase of this article's authors' project, this article reports that data on 130 microhaplotype loci with estimates of haplotype frequency data on 83 populations have been published.


Microhaplotypes have become a new type of forensic marker with a great ability to identify and deconvolute mixtures because massively parallel sequencing (MPS) allows the alleles (haplotypes) of the multi-SNP loci to be determined directly for an individual. As originally defined, a microhaplotype locus is a short segment of DNA with two or more SNPs defining three or more haplotypes. The length is short enough, less than about 300 bp, that the read length of current MPS technology can produce a phase-known sequence of each chromosome of an individual. To provide a better picture of global allele frequency variation, the authors have now tested 13 more populations for 65 of the microhaplotype loci from among those with higher levels of inter-population gene frequency variation, including 8 loci not previously published. These loci provide clear distinctions among 6 biogeographic regions and provide some information distinguishing up to 10 clusters of populations. (publisher abstract modified)

Date Published: January 1, 2018