Construction and forensic application of 20 highly polymorphic microhaplotypes.

Aliye Kureshi,Shule Sun,Dan Wen,Lagabaiyila Zha,Jienan Li,Zedeng Yang

doi:10.1098/rsos.191937

Aliye Kureshi, Shule Sun + Show 4 more

Open Access

https://doi.org/10.1098/rsos.191937

Copy DOI

Abstract

Microhaplotype markers have become an important research focus in forensic genetics. However, many reported microhaplotype markers have limited polymorphisms. In this study, we developed a set of highly polymorphic microhaplotype markers based on tri-allelic single-nucleotide polymorphisms. Eleven newly discovered microhaplotypes along with nine previously identified in our laboratory were studied. The microhaplotype genotypes of unrelated individuals and familial samples were generated on the MiSeq PE300 platform. These 20 loci have an average greater than 3.5 effective number of alleles. Over the whole set, the cumulative power of discrimination was 1–3.3 × 10−18, the cumulative power of exclusion was 1–1.928 × 10−7 and the theoretical probability of detecting a mixture was 1–1.427 × 10−6. Differentiation comparisons of 26 populations from the 1000 Genomes Project distinguished among East Asian, South Asian, African and European populations. Overall, these markers enrich the current microhaplotype marker databases and can be applied for individual identification, paternity testing and biogeographic ancestry distinction.

Highlights

Single-nucleotide polymorphisms (SNPs) are the most abundant variations in the human genome [1]
After excluding loci according to the screening criteria and sequencing quality control threshold, 20 microhaplotypes were successfully sequenced on the MiSeq power of exclusion (PE) 300 platform
We developed a set of highly polymorphic microhaplotypes and evaluated their use for forensic analyses

Summary

Introduction

Single-nucleotide polymorphisms (SNPs) are the most abundant variations in the human genome [1]. There are millions of SNPs in each individual, making them significant in forensic research, especially for the identification of individuals [2]. The amplicons of SNPs are smaller than commonly used short tandem repeats (STRs), and this may be helpful when analysing degraded samples. SNPs tend to be specific to certain populations, making them royalsocietypublishing.org/journal/rsos R.

Methods

Results

Conclusion