Abstract
Due to the unique inheritance pattern, X-chromosomal short tandem repeats (X-STRs) have several advantages in complex kinship cases, such as deficiency cases or grandparent-grandchild and half-sisters testing. In our study, 541 unrelated individuals gathered from Mongolian and Eastern Chinese Han populations were successfully genotyped using the Investigator Argus X-12 kit. We calculated allele/haplotype frequencies and other forensic parameters of the two populations and further explored their genetic distance with already published Chinese populations and six global populations. Our results showed that the 12 X-STR markers were highly informative in the two populations when compared with nine other Chinese populations: significant differences were found at several loci. Geographically neighboring populations or different ethnic groups within the same area appeared to have closer evolutionary relationships. We also analyzed population genetic structure by performing clustering with the STRUCTURE program and Principal Coordinate Analysis (PCoA), and we found that the Chinese and other populations enrolled in this study could be distinguished. Furthermore, Mongolian males were distinguishable from the other studied males by a moderate genetic distance. Our study also expanded the X-STR database, which could facilitate the appropriate application of the 12 X-STR markers in the forensic field in China.
Highlights
Short tandem repeats (STRs) are relatively mature genetic markers that were widely used in forensic applications
In the Mongolian samples, a total of 164 alleles were typed using the Argus X-12 kit and no statistically significant deviation from Hardy-Weinberg equilibrium (HWE) was observed except for the DXS10134 locus in female samples (p = 0.0027) even after applying the Bonferroni’s correction for multiple testing (p = 0.05/12). This deviation from HWE may be caused by the substructure of the chosen population, which could result in a bias of the samples
Our current study indicated that the Investigator Argus X-12 kit used in Mongolian and Eastern Chinese Han sample sets provided highly polymorphic data for discriminating individuals and testing kinship, which enriched the Chinese ethnic genetic information
Summary
Short tandem repeats (STRs) are relatively mature genetic markers that were widely used in forensic applications. Genotyping of X-chromosomal STR (X-STR) markers has developed into a valuable method used by many forensic researchers as a supplement to the information provided by autosomal STR (AS-STR), Y-chromosomal STR (Y-STR), and mitochondrial DNA, in deficiency and complex kinship cases[1,2]. These different approaches can complement each other with their characteristic genetic information.
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