Dataset Information

Forensic features and genetic background exploration of a new 47-autosomal InDel panel in five representative Han populations residing in Northern China.

ABSTRACT:

Background

Insertion/deletion (InDel) analysis plays an indispensable role in human identification, population genetics, and biogeographic research. Profiles of individuals in forensic applications worldwide based on a set of autosomal InDel loci (A-InDels) in human genomes have been widely used over the past few years.

Methods

The new AGCU InDel 50 Kit contains 47 well-chosen A-InDels, ensuring high discriminatory power, and the 2 Y chromosome InDel loci (Y-InDels) are used for sex determination in case of allele dropout at Amelogenin. In this study, five Northern Han populations residing in different geographic areas of China were recruited and genotyped using the assay.

Results

After Bonferroni correction, all 47 A-InDels were in accordance with the lack of significant departures of Hardy-Weinberg equilibrium in all loci and investigated groups. The combined probability of discrimination and the probability of exclusion in the Han population range from 1-3.2240 × 10^-19 to 1-1.3030 × 10^-19 and 0.9997, respectively. A comprehensive population genetic relationship investigation between Han Chinese and 26 worldwide populations based on allele frequency correlation was carried out. Our results revealed no significant genetic differentiation in Chinese Han groups. Hierarchical clustering, phylogenetic relationship reconstructions, multidimensional scaling, principal component analysis, and structure analysis were performed, and the results indicated that, genetically, Han populations are closely related to East Asians.

Conclusion

Overall, this novel 47 A-InDel assay is a valuable tool that could potentially be used for forensic identification and parentage tests.

SUBMITTER: Song F

PROVIDER: S-EPMC7216812 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Abstract Sichuan Province is located at the transitional junction regions of the Qinghai-Tibet Plateau and the low-altitude plains. It also serves as the corridor of Sino-Tibetan-speaking population migration and expansion since neolithic expansion of Proto-Tibeto-Burman populations from Middle/Upper Yellow River during Majiayao period (3300–2000 BC). However, the population structure and the corresponding genetic diversity of forensic-related markers in this region remain unclear. Thus, we genotyped 30 insertion-deletion (InDel) markers in 444 samples from four ethnic groups (Han, Tibetan, Hui and Yi) from Sichuan Province using the Investigator® DIPplex kit to explore the characteristics of population genetics and forensic genetic focuses. All the loci were found to be in Hardy-Weinberg Equilibrium (HWE) after applying a Bonferroni correction and no pairwise loci showed prominent linkage disequilibrium. The combined matching probability (CMP) and the combined power of discrimination (CPD) are larger than 1.8089 × 10−11 and 0.99999999995, respectively. Principal component analysis, multi-dimensional scaling plots and Neighbour-Joining tree among 65 worldwide populations indicated that Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations, and Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. The model-based genetic structure further supports the genetic affinity between the studied populations and linguistically close populations. Key Points Forensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification. Genetic similarities existed between the studied populations and ethnically, linguistically close populations. Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations. Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations.