Sichuan Province is located at the transitional junction regions of the Qinghai-Tibet Plateau and the low-altitude plains. It also serves as the corridor of Sino-Tibetan-speaking population migration and expansion since neolithic expansion of Proto-Tibeto-Burman populations from Middle/Upper Yellow River during Majiayao period (3300–2000 BC). However, the population structure and the corresponding genetic diversity of forensic-related markers in this region remain unclear. Thus, we genotyped 30 insertion-deletion (InDel) markers in 444 samples from four ethnic groups (Han, Tibetan, Hui and Yi) from Sichuan Province using the Investigator^® DIPplex kit to explore the characteristics of population genetics and forensic genetic focuses. All the loci were found to be in Hardy-Weinberg Equilibrium (HWE) after applying a Bonferroni correction and no pairwise loci showed prominent linkage disequilibrium. The combined matching probability (CMP) and the combined power of discrimination (CPD) are larger than 1.8089 × 10⁻¹¹ and 0.99999999995, respectively. Principal component analysis, multi-dimensional scaling plots and Neighbour-Joining tree among 65 worldwide populations indicated that Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations, and Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. The model-based genetic structure further supports the genetic affinity between the studied populations and linguistically close populations.Key PointsForensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification.Genetic similarities existed between the studied populations and ethnically, linguistically close populations.Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations.Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. Forensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification. Genetic similarities existed between the studied populations and ethnically, linguistically close populations. Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations. Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations.

Sichuan Province is located at the transitional junction regions of the Qinghai-Tibet Plateau and the low-altitude plains. It also serves as the corridor of Sino-Tibetan-speaking population migration and expansion since neolithic expansion of Proto-Tibeto-Burman populations from Middle/Upper Yellow River during Majiayao period (3300–2000 BC). However, the population structure and the corresponding genetic diversity of forensic-related markers in this region remain unclear. Thus, we genotyped 30 insertion-deletion (InDel) markers in 444 samples from four ethnic groups (Han, Tibetan, Hui and Yi) from Sichuan Province using the Investigator^® DIPplex kit to explore the characteristics of population genetics and forensic genetic focuses. All the loci were found to be in Hardy-Weinberg Equilibrium (HWE) after applying a Bonferroni correction and no pairwise loci showed prominent linkage disequilibrium. The combined matching probability (CMP) and the combined power of discrimination (CPD) are larger than 1.8089 × 10⁻¹¹ and 0.99999999995, respectively. Principal component analysis, multi-dimensional scaling plots and Neighbour-Joining tree among 65 worldwide populations indicated that Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations, and Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. The model-based genetic structure further supports the genetic affinity between the studied populations and linguistically close populations.Key PointsForensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification.Genetic similarities existed between the studied populations and ethnically, linguistically close populations.Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations.Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. Forensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification. Genetic similarities existed between the studied populations and ethnically, linguistically close populations. Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations. Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations.

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: 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.

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.

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.

With the characteristics of low mutation rate, length variation and short amplicon size, insertion/deletion polymorphisms (InDels) have the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). Herein, people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit. We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations. The accumulated powers of discrimination and powers of exclusion were 0.999 999 999 9646 and 0.9897 in the Hainan Han population and 0.999 999 999 9292 and 0.9861 in the Hainan Li population, respectively. Additionally, population comparisons among geographically, ethnically and linguistically diverse populations via cluster heatmap, multidimensional scaling, principal component analysis, phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han, She and Tujia populations, while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups; both populations had a high degree of genetic differentiation from most Turkic-speaking populations. Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative, which are suitable for human identification and population genetics.KEYPOINTSFour hundred and forty-five Chinese individuals from two ethnicities (Hainan Han and Hainan Li) were firstly analyzed by 30 autosomal InDels included in the Investigator DIPplex panel.Forensic parameters of the 30 InDels in the two populations showed high polymorphism and universality for human identification purposes.The Investigator DIPplex panel had a certain capacity of differentiating intercontinental populations and different language populations. Four hundred and forty-five Chinese individuals from two ethnicities (Hainan Han and Hainan Li) were firstly analyzed by 30 autosomal InDels included in the Investigator DIPplex panel. Forensic parameters of the 30 InDels in the two populations showed high polymorphism and universality for human identification purposes. The Investigator DIPplex panel had a certain capacity of differentiating intercontinental populations and different language populations.

With the characteristics of low mutation rate, length variation and short amplicon size, insertion/deletion polymorphisms (InDels) have the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). Herein, people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit. We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations. The accumulated powers of discrimination and powers of exclusion were 0.999 999 999 9646 and 0.9897 in the Hainan Han population and 0.999 999 999 9292 and 0.9861 in the Hainan Li population, respectively. Additionally, population comparisons among geographically, ethnically and linguistically diverse populations via cluster heatmap, multidimensional scaling, principal component analysis, phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han, She and Tujia populations, while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups; both populations had a high degree of genetic differentiation from most Turkic-speaking populations. Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative, which are suitable for human identification and population genetics.KEYPOINTSFour hundred and forty-five Chinese individuals from two ethnicities (Hainan Han and Hainan Li) were firstly analyzed by 30 autosomal InDels included in the Investigator DIPplex panel.Forensic parameters of the 30 InDels in the two populations showed high polymorphism and universality for human identification purposes.The Investigator DIPplex panel had a certain capacity of differentiating intercontinental populations and different language populations. Four hundred and forty-five Chinese individuals from two ethnicities (Hainan Han and Hainan Li) were firstly analyzed by 30 autosomal InDels included in the Investigator DIPplex panel. Forensic parameters of the 30 InDels in the two populations showed high polymorphism and universality for human identification purposes. The Investigator DIPplex panel had a certain capacity of differentiating intercontinental populations and different language 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: 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.