Abstract

The mitochondrial DNA (mtDNA) control region sequences for the hypervariable regions I (HVI) and II (HVII) of 309 Thai citizens were investigated using Sanger-type sequencing to generate an mtDNA reference dataset for forensic casework, and the haplogroup distribution within geographically proximal Asian populations was analyzed. The population sample set contained 264 distinct haplotypes and showed high haplotype diversity, low matching probability, and high powers of discrimination, at 0.9985, 0.4744%, and 0.9953, respectively, compared with previous reports. Subhaplogroup F1a showed the highest frequency in the Thai population, similar to Southeast Asian populations. The haplotype frequencies in the northern, northeastern, and southern populations of Thailand illustrate the relevance of social, religious, and historical factors in the biogeographical origin of the admixed Thai population as a whole. The HVI and HVII reference datasets will be useful for forensic casework applications, with improved genetic information content and discriminatory power compared to currently available techniques.

Highlights

  • National Primate Research Center of Thailand, Chulalongkorn University (NPRCT-CU), School of Biomolecular Science and Engineering, Vidyasirimedhi Institute of Science and Prapatsorn Areesirisuk and Kornsorn Srikulnath are joint first authors

  • The power of mitochondrial DNA (mtDNA) typing to discriminate between individuals based on maternal inheritance is limited, with a lack of recombination, but mtDNA is frequently applied in routine forensic applications [7,11]

  • The first two dimensions of the principal component analysis (PCA) of the single-nucleotide polymorphisms (SNPs) data accounted for Diversity 2021, 13, x FOR PEER REVIEW

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Summary

Introduction

The mitochondrial DNA (mtDNA) control region sequences for the hypervariable regions I (HVI) and II (HVII) of 309 Thai citizens were investigated using Sanger-type sequencing to generate an mtDNA reference dataset for forensic casework, and the haplogroup distribution within geographically proximal Asian populations was analyzed. The analysis of human mitochondrial DNA (mtDNA) has been conducted globally in recent years, following the standard forensic casework guidelines using Sanger-type sequencing (STS) [1,2,3,4,5]. MtDNA typing has focused on the 342 bp (16,024–16,385) hypervariable region I (HVI), and the 268 bp (73–340) HVII, with reference to the human mtDNA genome sequence (GenBank accession number: NC_012920.1) [3,12,13,14,15]. I, which are found occasionally during excavations [19]. mtDNA techniques have been adopted as the global standard forensic protocols by the International Society for Forensic

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