Abstract
BackgroundFor better application in human forensic cases and population genetics research, it is imperative to investigate the genetic characteristics of Guanzhong Han population using enhanced Y‐chromosomal short tandem repeats (Y‐STR) detecting system with higher discriminating power than previous ones.MethodsIn this study, 38 Y‐STRs were profiled in 430 unrelated Chinese Han male individuals from Guanzhong region of Shaanxi Province, Northwest China, using the Yfiler™ Platinum PCR Amplification Kit. Haplotype frequencies and forensic parameters were calculated. Comprehensive population comparisons with geographically/ethnically different populations in China and other worldwide countries were performed.ResultsA total of 422 different haplotypes were observed with the overall haplotype diversity (HD), discriminatory power (DC) and haplotype match probability (HMP) were 0.9999, 0.9814, and 0.0024, respectively. Guanzhong Han showed genetically affinity with Han ethnicity from Shanxi and Henan provinces, while far distant from Tibetan populations.ConclusionThis study offered a unique insight into Guanzhong Han population, the 38 Y‐STRs included in the the Yfiler™ Platinum system are highly polymorphic and informative and can be used for forensic practice and human genetic research.
Highlights
For better application in human forensic cases and population genetics research, it is imperative to investigate the genetic characteristics of Guanzhong Han population using enhanced Y-chromosomal short tandem repeats (Y-STR) detecting system with higher discriminating power than previous ones
Allele and haplotype frequencies were determined by direct counting. genetic diversity (GD), haplotype diversity (HD) and haplotype match probability (HMP) were calculated using the following formulas: GD = n (1 − Σpiai2)/(n − 1), HD = n (1 − Σpihi2)/(n − 1), HMP = Σpihi2, where n represents the number of tested samples, and piai/pihi means the relative frequency of the ith genotypes/haplotypes, respectively (Nei, 1981)
The results revealed that the percentage of detected unique haplotypes had remarkably raised from 74.56% (MHT) to 98.34% (38 STRs), and the 38 Y-STR loci showed the highest haplotype diversity value (HD = 0.9999) and superior discrimination power (DC = 0.9814), which means a maximized distinction of unrelated males can be achieved by 38 Y-STRs among all above Y-STR kits
Summary
A basin located in the central part of Shaanxi Province, eastern Northwest China, consists of Xi'an, Xianyang, Baoji, Weinan, Tongchuan and Yangling (Figure 1). The YfilerTM Platinum PCR Amplification Kit (Thermo Fisher Scientific) is a newly developed commercially available Y-STR multiple detecting system, which could simultaneously amplify up to 41 forensically related Y chromosomal markers, including 38 Y-STRs plus 3 Y-InDels, with a six-dye typing system over a read region of 60–565 bp. A study focusing on Guanzhong Han population analysis of Y-chromosomal genetic diversity for 38 STR loci was conducted by the YfilerTM Platinum system. We determined the haplotype diversity and forensic parameters of the 38 STR loci (DYS576, DYS389I, DYS635, DYS389II, DYS627, DYS549, DYS645, DYS460, DYS458, DYS19, YGATAH4, DYS448, DYS391, DYS557, DYS593, DYS522, DYS456, DYS390, DYS438, DYS392, DYS518, DYS444, DYS596, DYS570, DYS437, DYS449, DYS643, DYS393, DYS439, DYS481, DYS533, DYS447, DYS385, DYF387S1, and DYS527) and 3 Y-InDels (rs771783753, rs759551978, and rs199815934) of the studied population. Population phylogenetic relationships exploration with geographically/ethnically distinct Chinese and world populations was performed
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