Microhaplotypes in forensic genetics

Abstract

Microhaplotype loci (microhaps, MHs) are a novel type of molecular marker of less than 300 nucleotides, defined by two or more closely linked SNPs associated in multiple allelic combinations. The value of these markers is enhanced by massively parallel sequencing (MPS), which allows the sequencing of both parental haplotypes at each of the many multiplexed loci. This review describes the features of these multi-SNP markers and documents their value in forensic genetics, focusing on individualization, biogeographic ancestry inference, and mixture deconvolution. Foreseeable applications also include missing person identification, relationship testing, and medical diagnostic applications. The technique is not restricted to humans.

Keywords: Biogeographic ancestry inference; Clinical application; Human identification; Massively parallel sequencing; Microhaplotypes; Missing person and relationship identification; Mixture deconvolution; Non-human DNA; Probabilistic genotyping; Single nucleotide polymorphisms.