A Highly Polymorphic Panel Consisting of Microhaplotypes and Compound Markers with the NGS and Its Forensic Efficiency Evaluations in Chinese Two Groups.

Xiaoye Jin,Yuxin Guo,Yanfang Liu,Xingru Zhang,Bofeng Zhu,Wei Cui,Chong Chen,Chunmei Shen

doi:10.3390/genes11091027

Xiaoye Jin, Yuxin Guo + Show 6 more

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https://doi.org/10.3390/genes11091027

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Abstract

Novel genetic markers like microhaplotypes and compound markers show promising potential in forensic research. Based on previously reported single nucleotide polymorphism (SNP) and insertion/deletion (InDel) polymorphism loci, 29 genetic markers including 22 microhaplotypes and seven compound markers were identified. Genetic distributions of the 29 loci in five continental populations, Kazak and Mongolian groups in China were investigated. We found that the expected heterozygosity values of these 29 loci were >0.4 in these populations, indicating these loci were relatively high polymorphisms. Population genetic analyses of five continental populations showed that five loci displayed relatively high genetic variations among these continental populations and could be useful markers for ancestry analysis. In summary, the 29 loci displayed relatively high genetic diversities in continental populations and Chinese two groups and could be informative loci for forensic research.

Highlights

In forensic research, human identification and paternity testing are two important research items.Since short tandem repeats (STRs) are highly polymorphic and widely distributed in the human genome, they are universally employed in forensic practice [1,2]
29 microhaplotypes and compound markers were identified from previously reported single nucleotide polymorphism (SNP) [18,19,20,21,22,23] and InDel loci [24,25]
We named each locus based on the nomenclature criteria proposed by Kidd et al [40]. These 29 loci consisted of 69 SNP/InDel loci, and their chromosomal location information is presented in Supplementary Table S2

Summary

Introduction

In forensic research, human identification and paternity testing are two important research items.Since short tandem repeats (STRs) are highly polymorphic and widely distributed in the human genome, they are universally employed in forensic practice [1,2]. There are some deficiencies of STRs in the application. Their relatively longer amplicon lengths make the detection difficult in degraded DNA samples, which may lead to the loss of some alleles with long amplicon lengths [3], and the high mutation rate of STRs may bring about difficulty in paternity analyses [4]. Genes 2020, 11, 1027 some favorable characteristics like a relatively low mutation rate and small amplicon size, and they have been paid considerable attention by forensic geneticists [5,6,7,8,9]. SNPs and InDels commonly demonstrate di-allelic variations, which lead to low polymorphisms.

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