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Background Haplotype/allele frequency data of Y-chromosomal STR loci in ethnically diverse populations are essential for forensics, anthropology and genealogy. However, genetic structure and forensic characterisation of the Chinese Han population residing in Yan'an, in the Northern Shaanxi Province, remain unclear. Aim To assess forensic efficiency for 38 Y-Chromosomal STR loci in Yan'an Han population and reveal the population genetic relationships between Yan'an Han and other populations at a nationwide and worldwide level. Subjects and methods 719 healthy unrelated males were genotyped using the Yfiler™ Platinum system. Haplotype/allele frequencies and forensic parameters were calculated. Multi-dimensional scaling plots (MDS) and neighbor-joining (N-J) tree were used to explore the population structure based on the pairwise gene distances (Rst). Results A total of 707 haplotypes were identified, among which 697 unique haplotypes were observed (98.59%). The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.9999 and 0.9833, respectively. Comprehensive population comparisons showed Yan'an Han is genetically closer to linguistically similar populations in China, and more related to East Asian populations around the world. Conclusion The present results give a unique insight into the Yan'an Han population via the set of 38 Y-STRs, which can be used for forensic practice and human genetics research.

Background: Insertions and deletions (Indels) have been used in routine forensic studies, archaeology, and population genetics. They have certain advantages, such as absence of stutter, small amplicon lengths, and low mutation rates. The genetic variations and forensic features of Indels in the Wuzhong Hui population are, as yet, unclear.Aim: To investigate the genetic polymorphisms of 30 Indels in Wuzhong Hui people and explore their genetic relationship with 48 reference populations from all over the world.Subjects and methods: We genotyped 30 Indels included in the Investigator DIPplex Kit in 156 Wuzhong Hui individuals. The genetic polymorphisms and population genetic relationships were analysed and explored via pairwise Fst, principal component analysis, multidimensional scaling plots, phylogenetic tree, and structure.Results: The combined power of discrimination (CPD) and the combined probability of exclusion (CPE) were 0.9999999999899 and 0.9880, respectively. Population genetic diversity and affinity were associated with geographic origin and linguistic affiliation.Conclusions: The 30 Indels can be utilised as an important tool in forensic personal identification and as a supplementary method in paternity testing in Wuzhong Hui. The Wuzhong Hui people have a close genetic relationship with populations of geographical proximity and Sinitic-speaking populations, while they are different from other continental populations and Turkic-speaking populations.

Background: The Uyghur is the fifth largest group in China and also the largest ethnic minority in Xinjiang.Aim: To explore the genetic variations of 27 forensic genetic markers included in the newly developed SureID® PanGlobal Human DNA Identification System and analyse the genetic relationship between Xinjiang Uyghur and their neighbours.Subjects and methods: We genotyped 27 markers in 2,189 unrelated Uyghur individuals from the Hotan Prefecture in Southwest Xinjiang. Comprehensive population genetic studies among Chinese populations and worldwide populations were conducted via various statistics.Results: The combined power of discrimination (CPD) and the combined power of exclusion (CPE) of the new-generation autosomal STR amplification system in the Hotan Uyghur are 9,9999-E01 and 9,9999-E01, respectively. Population genetic studies indicate that the Hotan Uyghur show a close genetic relationship with geographically different Uyghurs and Kazakhs, while significant genetic differentiation exists between the Hotan Uyghur and some ethnicities from other non-Turkic-speaking populations. The results of population comparisons among the 52 worldwide populations demonstrate that geographically approached intercontinental populations have close genetic relationships.Conclusions: 24 autosomal STRs are highly polymorphic and informative in the Uyghur and this system is suitable for forensic personal identification and paternity testing. Our findings not only reveal that Chinese Uyghur is a homogenous population based on forensic genetic markers, but also indicate that population genetic affinity is closely related to the adjacent populations with common ethnic origin.

Background: Guizhou province is located in southwest China with abundant genetic, linguistic and cultural diversity. The Bouyei is one of the 18 officially recognised minority groups in Guizhou, accounting for about 97% of the total Bouyei population in China. However, the genetic history and forensic characterisation of the Bouyei people is largely unknown due to a lack of genetic data. Aim: We aim to investigate genetic polymorphisms and forensic characterisation of the Guizhou Bouyei population, as well as the relationships between the Bouyei and other East Asian populations. Subjects and methods: We genotyped 19 X-STRs in 188 males and 165 females of Guizhou Bouyei using the AGCU X19 STR Kit. We estimated allele frequencies, forensic parameters and genetic distances between the Bouyei and other East Asian populations. We presented the genetic distances in a phylogenetic tree, an MDS plot and a PCA plot. Results: In Guizhou Bouyei individuals, we observed 216 alleles with corresponding frequencies ranging from 0.0019 to 0.6757. All of the six combined powers of PDm, PDf, MEC Krüger, MEC Kishida, MEC Desmarais and MEC Desmarais in allele diversity and haplotype diversity are larger than 0.99999995. We found genetic affinities among the Bouyei people and their geographical neighbouring populations in Guizhou, such as the Sui, Miao and Han. Conclusions: The highly polymorphic and informative forensic parameters of the 19 X-STRs in Bouyei people show the powerful potential of those markers in forensic identification and parentage tests. The genetic relationships of the Bouyei with other East Asian populations correspond well with geographic affiliations as well as linguistic classifications.

Background: Short tandem repeats (STRs) have gained considerable attention in family search (Y-chromosomal STRs), complex paternity identification (X-chromosomal STRs), routine forensic personal identification (autosomal STRs) and population genetics.Aim: To explore the forensic characteristics of 23 autosomal STRs included in the Huaxia Platinum system in the South Pakistan Hazara population and investigate the genetic similarities and differences between Hazara and 54 worldwide reference populations.Subjects and methods: Variation of the 23 autosomal STRs included in the Huaxia Platinum system was first investigated and reported in a sample of 261 Quetta Hazara in Balochistan Province, Southwest Pakistan.Results: The combined power of discrimination is 0.999999999999999999999999999 and combined power of exclusion is 0.99999999989596 in Quetta Hazara. Comprehensive population comparisons between Hazara and another 13 Eurasian populations based on genotype data, as well as between Hazara and 54 worldwide populations based on the allele frequency distribution, were conducted. Multidimensional scaling plots, principal component analysis, and neighbour-joining phylogenetic trees consistently demonstrated that Pakistan Hazara harbours close affinities with neighbouring Turkic-speaking populations. Model-based genetic structure analysis further suggests that Quetta Hazara derives about half its ancestry directly from the East Asians.Conclusion: Twenty-five forensic-related markers included in the Huaxia Platinum system can be used for forensic practice in the Central Asia Hazara population. Quetta Hazara has a close genetic relationship with the Turkic-speaking populations of Uyghur and Kazakh. Further whole-genome sequencing of Hazara needs to be conducted to validate the observed genetic structure and reconstruct the fine-scale population history of Hazara.

Kyrgyz people, a Turkic-speaking ethnic group native to Central Asia, are considered as one mixed population from different historical tribes through the processes of conquest, intermarriage, assimilation and migration. The aim of this study was to infer the forensic statistical parameters and genetic structure of Chinese Kyrgyz and explore the patterns of their genetic relationships with adjacent and worldwide reference populations. We genotyped 25 forensic-related markers (amelogenin, Y-indel of rs2032678 and 23 Autosomal Short Tandem Repeats, A-STRs) in 491 Chinese Kyrgyzs. Allele frequency and forensic parameters were calculated using the STRAF software. Pairwise genetic distances were estimated using Phylip and subsequently dissected via principal component analysis, multidimensional scaling plots and phylogenetic relationship reconstruction. Investigations of allele frequency and forensic parameters indicated that all studied A-STRs are informative in the Chinese Kyrgyz population and can be used as a powerful tool in forensic individual identification and parentage testing. Results from genetic relationship analyses demonstrated that Akto Kyrgyz people harbour a genetically close relationship with Turkic-speaking Uyghur and Kazakh. Genetic structure analysis based on the raw genotype data among Eurasian populations further suggested that genetic ancestries and population substructures in Asia are largely associated with language and geography.

Allele frequency data and forensic statistical parameters were determined for 20 autosomal short tandem repeat (STR) loci of the PowerPlex 21 System in 214 unrelated healthy individuals of a Uyghur ethnic minority group living in Xinjiang province, northwest China. A total of 232 alleles were observed with the corresponding allele frequencies ranging from 0.0023 to 0.5304. All loci were consistent with Hardy–Weinberg equilibrium (HWE) after the Bonferroni correction (p > 0.0025). The combined probability of exclusion, power of discrimination, probability of matching value were 0.999999999, 0.9999999999999999999999995, and 4.78246 × 10−25, respectively. Our results revealed that the 20 STRs were highly polymorphic and informative, and could be suitable for forensic application, especially parentage test and personal identification. The further population comparison between the Uyghur and other 26 reference populations revealed that the loci of D13S317, TH01 and D6S1043 showed high ethnical specific...