Abstract

In the present study, we assessed the genetic diversities of the Chinese Kazak ethnic group on the basis of 30 well-chosen autosomal insertion and deletion loci and explored the genetic relationships between Kazak and 23 reference groups. We detected the level of the expected heterozygosity ranging from 0.3605 at HLD39 locus to 0.5000 at HLD136 locus and the observed heterozygosity ranging from 0.3548 at HLD39 locus to 0.5283 at HLD136 locus. The combined power of discrimination and the combined power of exclusion for all 30 loci in the studied Kazak group were 0.999999999999128 and 0.9945, respectively. The dataset generated in this study indicated the panel of 30 InDels was highly efficient in forensic individual identifcation but may not have enough power in paternity cases. The results of the interpopulation differentiations, PCA plots, phylogenetic trees and STRUCTURE analyses showed a close genetic affiliation between the Kazak and Uigur group.

Highlights

  • In the last few years, a novel polymorphic marker, insertion and deletion polymorphisms (InDels), gained increased concern and attention in the field of medical and forensic genetics

  • Allele frequencies and forensic efficiency parameters of 30 InDels in Kazak group were shown in Figure 1 and Supplementary Table 1

  • Having applied the Bonferroni correction, Hardy-Weinberg equilibrium (HWE) test showed no significant deviation from the expected value (p>0.0017), with the lowest p value at HLD97 locus (0.0455)

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Summary

Introduction

In the last few years, a novel polymorphic marker, insertion and deletion polymorphisms (InDels), gained increased concern and attention in the field of medical and forensic genetics. InDels could be readily analyzed by capillary electrophoresis which is relatively common in the forensic DNA laboratories [1]. InDels have small amplicons and relatively low mutation rates, which makes them more applicable for degraded or ancient DNA www.impactjournals.com/oncotarget analyses [2, 3]. Besides the purpose of forensic caseworks, ancestry informative InDels can be good candidates for biogeographic ancestry analyses since the allele frequencies of InDels are significantly different between different groups or populations [4]. In order to further clarify the genetic background and origin of the Kazak ethnic minority, we collected bloodstain samples from Kazak group in Xinjiang Uygur Autonomous Region and obtained population data using the kit mentioned above. We calculated the statistical parameters of the 30 autosomal InDel loci and evaluated the population genetic differentiations between Kazak and 23 previously published populations

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