Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts

Forensic Science International. Genetics
Kristiaan J van der GaagPeter de Knijff

Abstract

Since two decades, short tandem repeats (STRs) are the preferred markers for human identification, routinely analysed by fragment length analysis. Here we present a novel set of short hypervariable autosomal microhaplotypes (MH) that have four or more SNPs in a span of less than 70 nucleotides (nt). These MHs display a discriminating power approaching that of STRs and provide a powerful alternative for the analysis;1;is of forensic samples that are problematic when the STR fragment size range exceeds the integrity range of severely degraded DNA or when multiple donors contribute to an evidentiary stain and STR stutter artefacts complicate profile interpretation. MH typing was developed using the power of massively parallel sequencing (MPS) enabling new powerful, fast and efficient SNP-based approaches. MH candidates were obtained from queries in data of the 1000 Genomes, and Genome of the Netherlands (GoNL) projects. Wet-lab analysis of 276 globally dispersed samples and 97 samples of nine large CEPH families assisted locus selection and corroboration of informative value. We infer that MHs represent an alternative marker type with good discriminating power per locus (allowing the use of a limited number of loci), small amplico...Continue Reading

Citations

Jun 17, 2020·Royal Society Open Science·Aliye KureshiLagabaiyila Zha
Aug 28, 2020·Frontiers in Genetics·Daniel S Standage, Rebecca N Mitchell
Feb 14, 2019·International Journal of Legal Medicine·Lindsay BennettDaniele Podini
Oct 25, 2020·BMC Medical Genomics·Jaqueline Yu Ting WangHelder I Nakaya
Jan 28, 2021·International Journal of Legal Medicine·Riga WuHongyu Sun
Oct 17, 2021·International Journal of Legal Medicine·Xingchun ZhaoZichun Hua

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