Y Chromosomal STR haplotypes in Chinese Uyghur, Kazakh and Hui ethnic groups and genetic features of DYS448 null allele and DYS19 duplicated allele.

Y Chromosomal short-tandem repeats (Y-STRs) provide valuable information that can be used for forensic investigation and population studies. The Yfiler® Plus PCR Amplification Kit allows the multiplex amplification of 27 Y-STRs, including seven rapidly mutating markers. With the kit, 447 unrelated males of three minorities (161 Uyghurs, 130 Kazakhs and 156 Huis) from the Xinjiang Uighur Autonomous Region of China were analysed in this study. The gene diversity values of the 27 Y-STRs in the Uyghur, Kazakh and Hui groups ranged from 0.4770 to 0.9545, 0.3897 to 0.9375 and 0.4621 to 0.9725, respectively. One specific sequence pattern of null alleles at the DYS448 locus was confirmed. The individuals carrying the null alleles at the DYS448 locus belonged to haplogroups C2b and C2b1a1b1, while those carrying duplicated alleles at the DYS19 locus belonged to haplogroups C2b1a2 and G2a. A total of 155, 118 and 146 distinct haplotypes were obtained in these three groups, respectively, with overall haplotype diversities of 0.9998, 0.9993 and 0.9996, respectively. Compared with 17 Y-plex, 27 Y-plex demonstrated an increased power of discrimination, especially for the Kazakh group. Visualisation of pairwise genetic distances between 24 ethnic groups in China using multidimensional scaling (MDS) demonstrates the distribution of various groups, which is largely in keeping with ethno-geographic patterns.