Pakistan harbors 18 major ethnic groups and Hazara is one of the distinct but smaller groups comprising 0.090% of the total population of Pakistan. Hazara individuals have typical Mongolian facial features and they claim to be descendants of Genghis Khan's army in the first quarter of the thirteenth century AD. Previous study based on limited number of Y STRs with limited number of samples showed that Hazaras are descendants of Mongols. In this study, we genotyped 198 unrelated males (153 Hazara, 15 Baluchi and 30 Mongols) living in Quetta, Baluchistan, Pakistan and Inner Mongolia, China respectively, for a total of 26 (n=153) to 29 (n=92) Y-chromosomal STR loci. 140 unique haplotypes were developed for Hazara population using the PowerPlex Y23 loci. The Y-STR locus showed a genetic diversity ranging from 0.2384 to 0.7918, and an overall discrimination capacity (DC) of 91.5%. The Hazara population samples were profiled for three additional Y-STRs (DYS388, DYS449 and DYS460), which increased the number of unique haplotypes to 144 while the DC increased to 94.11% in Hazara Population of Pakistan. Interestingly null alleles were observed at DYS448 with a specific mutation patterns in 25 individuals of Hazara population. The Hazaras showed significant differences from other local populations of Pakistan as well as neighboring populations, but had considerable genetic affinities to Kazakhs and Mongols. There was a lack of data for Hazara population of Pakistan and our results thus contribute to understanding the potential forensic usefulness of the 26 Y-STRs studied and also shed light on the population history of Pakistani Hazara population.

The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors 47 ethnic groups including the Manchu (MCH: 0.11%), Mongols (MGL: 0.81%), Kyrgyz (KGZ: 0.86%) and Uzbek (UZK: 0.066%). To establish DNA databases for these populations, allele frequency distributions for 15 autosomal short tandem repeat (STR) loci were determined using the AmpFlSTR Identifiler PCR amplification kit. There was no evidence of departures from Hardy–Weinberg equilibrium (HWE) in any of the four populations and minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The probabilities of identity for the different populations ranged from 1 in 1.51 × 1017 (MCH) to 1 in 9.94 × 1018 (MGL), the combined powers of discrimination ranged from 0.99999999999999999824 (UZK) to 0.9999999999999999848 (MCH) and the combined probabilities of paternal exclusion ranged from 0.9999979323 (UZK) to 0.9999994839 (MCH). Genetic distances, a phylogenetic tree and principal component analysis (PCA) revealed that the MCH, KGZ and UZK are genetically closer to the Han population of Liaoning and the Mongol population of Mongolia while the MGL are closer to Han, Japanese, Korean, Malaysian, Hong Kong Han and Russians living in China.

Forensic statistical parameters based on allelic frequencies of commonly used short tandem repeats were estimated for the Han population of Jiangsu province from P.R. China. The 6-dye GlobalFiler™ PCR amplification kit incorporates 21 autosomal STRs, providing reliable DNA typing results with enhanced the power of discrimination. Here, we analyzed the GlobalFiler™ STR loci in 516 unrelated individuals from Jiangsu Han population. A total of 256 alleles were observed ranging between 5 and 35.2 repeat units, and SE33 showed the greatest power of discrimination (34 alleles) in Jiangsu Han population. Most of the loci were found to be in the Hardy-Weinberg equilibrium after the Bonferroni correction with the exception of D3S1358. The combined power of exclusion (CPE) was 0.999999996353609, and the combined match probability (CMP) was 3.64 × 10. Phylogenetic parameters including pairwise genetic distances showed that Han population living in Jiangsu had closest genetic relationship with other East Asian populations. The present study provides precise reference database for forensic applications and population genetic studies.

Mongol-like-horsemen-turned-merchants from Manchuria are known as Manchus, originally their homeland was centered around what is nowadays the city of Shenyang in northeast China. Previously, worldwide analysis of Y-chromosomal haplotype diversity for 23 STR loci and Y-STR databases with PowerPlex® Y23 System (Promega Corporation Madison, USA) kit were created with collaborative efforts, but Manchu population data was missing. In current study, PowerPlex® Y23 System loci were examined in 328 unrelated Manchu male individuals from Xiuyan and Huanren Manchu autonomous counties in Liaoning province, to calculate the forensic parameters of the 23 STR loci. A total of 323 different haplotypes were observed on these 23 Y-STR loci. The gene diversities ranged from 0.3820 (DYS391) to 0.9696 (DYS385a, b). The overall haplotype diversity was 0.9999 +/-0.0002 at PowerPlex® Y23 System. Rst pairwise analyses, multidimensional scaling plot and linear discriminatory analysis showed the genetic structure of Manchu population was significantly different from some of Chinese populations like Tibetan andUyghur. Results of our study showed that PowerPlex® Y23 System marker set provided substantially stronger discriminatory power in Manchu population of China.

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