Haplotypic diversity and population genetic study of a population in Kashi region by 27 Y-chromosomal short tandem repeat loci.

Background: Y-chromosomal short tandem repeats (Y-STRs) have been certified to be the serviceable markers for some paternity cases in the last few years.

Methods: We presented the gene diversity, haplotypic diversity, and forensic statistical parameters of 340 unrelated Uighur males from Kashi region based on the 27 Y-STRs. Genomic DNA was extracted from bloodstain samples using the Chelex-100 method and amplified by Yfiler Plus PCR Amplification kit.

Results: Gene diversity values on the 27 Y-STRs ranged from 0.4749 (at DYS437 locus) to 0.9416 (at DYS385a,b loci). According to forensic parameters of the 27 Y-STR loci, 295 disparate haplotypes were acquired, 258 of which were unique. The haplotypic diversities and discrimination capacities at Yfiler plus 27 loci, Yfiler 17 loci, extended 11 loci, and minimal 9 loci were 0.9990 and 0.8676; 0.9961 and 0.6912; 0.9952 and 0.5941; and 0.9919 and 0.5676, respectively. Multidimensional scaling plot and neighbor-joining tree between the studied Uighur group and 17 reference populations were conducted, and the obtained results indicated the Kashi Uighur group had the closer genetic relationships with Uighur groups living in different regions.

Conclusion: To sum up, the present study may provide valuable population data and background information of Kashi Uighur group.