A Brief Introduction to Microhaplotypes and their Uses

Abstract

Microhaplotypes are genetic markers that are short DNA sequences, typically consisting of two or more single nucleotide polymorphisms (SNPs) sufficiently close molecularly (<300 basepairs) that their alleles are inherited together from parent to child. Microhaplotypes can be considered a special class of haplotypes, “micro” because they extend for only a few dozens of basepairs, not thousands of basepairs. The advantage of microhaplotypes is that, with massively parallel sequencing of a small segment, the phase is known. Microhaps have been shown to be highly informative in demonstrating uniqueness of DNA profiles and in determining the biogeographic ancestry of an individual. Tests of biologic relationships, such as paternity tests, can be done with microhaplotypes. Deconvolution of DNA mixtures is an area in which microhaplotypes appear to be especially promising. This brief introductory review presents the scientific background for the development of microhaplotypes as a new type of genetic marker and examples of some of the recent applications.