Insertion/deletion polymorphism (InDel), as the third genetic marker, has been given a lot of attention by forensic geneticists since it has the advantages of extensive distributions in the human genome, small amplicon, and low mutation rate. However, the extant InDel panels were only viewed as supplemental tools for kinship analyses. In addition, these panels were not conductive to mixture deconvolution because InDels in these panels mainly displayed two alleles. The purpose of this study is to investigate genetic distributions of a novel panel of InDels and STRs in the Guizhou Han population; assess the forensic application value of the panel; and conduct population genetic analyses of the Guizhou Han and other reference populations based on the overlapping loci. The bloodstain samples of 209 Guizhou Han were gathered and genotyped by the novel panel. Allelic frequencies and forensic parameters of two miniSTRs and 59 InDels in the panel were estimated. In addition, we assessed phylogenetic relationships among the Guizhou Han and other reference populations by principal component analysis, D_A genetic distance, and neighbor-joining tree. A total of 139 alleles of 61 loci could be observed in the Guizhou Han population. Polymorphic information content values of 59 InDels were greater than 0.3 in the Guizhou Han population. The cumulative power of discrimination and probability of exclusion of two miniSTRs and 59 InDels in the Guizhou Han population were 0.999999999999999999999999997984 and 0.9999986, respectively. Principal component analysis of 14 populations showed that the Guizhou Han population located closer to Hunan Han and Southern Han Chinese (CHS) populations. Similar results were also discerned from D_A genetic distances and the neighbor-joining tree. To sum up, the novel panel could be employed for forensic personal identification and paternity testing in the Guizhou Han population as a promising independent tool. Besides, the principal component analysis and phylogenetic tree of the Guizhou Han and other compared populations revealed that the Guizhou Han population possesses close genetic affinities with Hunan Han, CHS, and Han Chinese in Beijing (CHB) populations.

Insertion/deletion polymorphism (InDel), as the third genetic marker, has been given a lot of attention by forensic geneticists since it has the advantages of extensive distributions in the human genome, small amplicon, and low mutation rate. However, the extant InDel panels were only viewed as supplemental tools for kinship analyses. In addition, these panels were not conductive to mixture deconvolution because InDels in these panels mainly displayed two alleles. The purpose of this study is to investigate genetic distributions of a novel panel of InDels and STRs in the Guizhou Han population; assess the forensic application value of the panel; and conduct population genetic analyses of the Guizhou Han and other reference populations based on the overlapping loci. The bloodstain samples of 209 Guizhou Han were gathered and genotyped by the novel panel. Allelic frequencies and forensic parameters of two miniSTRs and 59 InDels in the panel were estimated. In addition, we assessed phylogenetic relationships among the Guizhou Han and other reference populations by principal component analysis, D_A genetic distance, and neighbor-joining tree. A total of 139 alleles of 61 loci could be observed in the Guizhou Han population. Polymorphic information content values of 59 InDels were greater than 0.3 in the Guizhou Han population. The cumulative power of discrimination and probability of exclusion of two miniSTRs and 59 InDels in the Guizhou Han population were 0.999999999999999999999999997984 and 0.9999986, respectively. Principal component analysis of 14 populations showed that the Guizhou Han population located closer to Hunan Han and Southern Han Chinese (CHS) populations. Similar results were also discerned from D_A genetic distances and the neighbor-joining tree. To sum up, the novel panel could be employed for forensic personal identification and paternity testing in the Guizhou Han population as a promising independent tool. Besides, the principal component analysis and phylogenetic tree of the Guizhou Han and other compared populations revealed that the Guizhou Han population possesses close genetic affinities with Hunan Han, CHS, and Han Chinese in Beijing (CHB) populations.

Sui people are officially recognised people living in southwest China, but there has been a lack of genetic research, especially based on mitochondrial DNA data. To study the sequences and haplogroups of the mitochondrial DNA control region in a typical Sui population, with the aim of helping to promote the establishment of a forensic DNA analysis reference database in East Asia. We analysed 201 Sui individuals and observed the sequences of the mitochondrial DNA control region. We calculated and explained the haplotype frequencies, haplogroup distribution and pairwise Fst values between the Sui and 47 other populations in the world, in order to explore genetic polymorphisms and population relationships. 161 haplotypes were found in the Sui population, with frequencies of 0.0049–0.0199. All samples were assigned to 80 different haplogroups. The haplotype diversity and random matching probability were 0.999938 and 0.024729, respectively. The pairwise Fst values and correlation p-values of 48 populations showed that the Sui population was most closely related to the Miao population in Guizhou and the Han population in Henan, and closer to the Punjab population and Pukhtunkhwa population in Pakistan, and was significantly different from the other 43 groups. Compared with the other 43 groups, it is relatively isolated. Our results show that the study of mitochondrial DNA based on the analysis of matrilineal genetic structure of the Sui population can help to promote the establishment of a forensic DNA reference database in East Asia and provide reference for future anthropological research.

X-chromosomes show a specific genetic mode, which makes genetic markers on the X-chromosome play crucial roles in forensic research and human evolution. Dong group, one of 55 minority groups in China, live in Guizhou, Guangxi, and Hunan provinces. Even though some genetic data of Y chromosomal short tandem repeats (STRs) and autosomal insertion/deletion polymorphism (InDels) in Dong groups have been reported, there is little research about X-STRs in the Dong group. Purposes of this study are to investigate allelic distributions and forensic statistical parameters of 19 X-STRs in the Guizhou Dong group, and explore the genetic composition of the Guizhou Dong group and its phylogenetic relationships with other reference populations. Five hundred and seven Dongs (272 males and 235 females) living in Guizhou province were typed using the AGCU X19 STR kit. Allelic frequencies and forensic parameters of 19 X-STRs in the Guizhou Dong group were calculated. Population genetic analyses of Guizhou Dong and another 17 reference populations were conducted using D_A genetic distances, phylogenetic tree, principal component analysis, and multidimensional scaling. A total of 230 alleles of 19 X-STRs were identified in all Dongs. The frequencies of 19 loci ranged from 0.0013 to 0.6838. The values for cumulative power of discrimination in males (PDM), cumulative power of discrimination in females (PDF), and four different kinds of mean exclusion chance (MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_du) for the 19 X-STRs in all individuals were 0.999999999999761, 0.9999999999999999999993951, 0.999999964841617, 0.999999999997261, 0.999999999997297, and 0.999999993623172, respectively. Besides, genetic polymorphisms of seven linkage clusters ranged from 0.9381 to 0.9963. In addition, these seven groups showed high polymorphism information content (PIC), PDM, PDF, MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_duo. Population genetic analyses of Guizhou Dong and another 17 reference populations showed that the Guizhou Dong group had close genetic relationships with surrounding Tai–Kadai-speaking, Hmong-Mien-speaking, and Han groups. Nineteen X-STRs displayed high genetic diversities and could be employed for forensic personal identification and paternity analysis in the Guizhou Dong group. Close genetic affinities between Guizhou Dong and surrounding populations were observed based on the 19 X-STRs in 17 reference populations.

Dong people in Southwest China are officially recognised as an ethnic group, but there has been a lack of population genetic research on this group, especially based on mitochondrial DNA data. To study the sequences and haplogroups of the mitochondrial DNA control region in a typical Dong population, and to provide help for the construction of a forensic mitochondrial DNA analysis reference database in East Asia. The sequences of the mitochondrial DNA control region were analysed in 200 individuals of Dong in Guizhou. The haplotype frequencies, haplogroup distribution and paired Fst values of Guizhou Dong and 51 other populations in the world were calculated and explained to explore the genetic polymorphism and population relationships. A total of 180 haplotypes were detected, with frequencies of 0.005–0.02. All haplotypes were assigned to 97 different haplogroups. The haplotype diversity and random matching probability were 0.998643 and 0.00635, respectively. The paired Fst values and correlation p values of 52 populations showed that the Guizhou Dong had the closest genetic relationship with the Henan Han and the Guizhou Miao in China, and were closest to the Punjab population in Pakistan and the Kashmiri population when compared with the world populations. Our study was based on the matrilineal genetic structure of Guizhou Dong to study mitochondrial DNA, which was helpful to promote the establishment of the forensic DNA reference database in East Asia and provide reference for anthropological research.

Dong people in Southwest China are officially recognised as an ethnic group, but there has been a lack of population genetic research on this group, especially based on mitochondrial DNA data. To study the sequences and haplogroups of the mitochondrial DNA control region in a typical Dong population, and to provide help for the construction of a forensic mitochondrial DNA analysis reference database in East Asia. The sequences of the mitochondrial DNA control region were analysed in 200 individuals of Dong in Guizhou. The haplotype frequencies, haplogroup distribution and paired Fst values of Guizhou Dong and 51 other populations in the world were calculated and explained to explore the genetic polymorphism and population relationships. A total of 180 haplotypes were detected, with frequencies of 0.005–0.02. All haplotypes were assigned to 97 different haplogroups. The haplotype diversity and random matching probability were 0.998643 and 0.00635, respectively. The paired Fst values and correlation p values of 52 populations showed that the Guizhou Dong had the closest genetic relationship with the Henan Han and the Guizhou Miao in China, and were closest to the Punjab population in Pakistan and the Kashmiri population when compared with the world populations. Our study was based on the matrilineal genetic structure of Guizhou Dong to study mitochondrial DNA, which was helpful to promote the establishment of the forensic DNA reference database in East Asia and provide reference for anthropological research.

X-chromosomes show a specific genetic mode, which makes genetic markers on the X-chromosome play crucial roles in forensic research and human evolution. Dong group, one of 55 minority groups in China, live in Guizhou, Guangxi, and Hunan provinces. Even though some genetic data of Y chromosomal short tandem repeats (STRs) and autosomal insertion/deletion polymorphism (InDels) in Dong groups have been reported, there is little research about X-STRs in the Dong group. Purposes of this study are to investigate allelic distributions and forensic statistical parameters of 19 X-STRs in the Guizhou Dong group, and explore the genetic composition of the Guizhou Dong group and its phylogenetic relationships with other reference populations. Five hundred and seven Dongs (272 males and 235 females) living in Guizhou province were typed using the AGCU X19 STR kit. Allelic frequencies and forensic parameters of 19 X-STRs in the Guizhou Dong group were calculated. Population genetic analyses of Guizhou Dong and another 17 reference populations were conducted using D_A genetic distances, phylogenetic tree, principal component analysis, and multidimensional scaling. A total of 230 alleles of 19 X-STRs were identified in all Dongs. The frequencies of 19 loci ranged from 0.0013 to 0.6838. The values for cumulative power of discrimination in males (PDM), cumulative power of discrimination in females (PDF), and four different kinds of mean exclusion chance (MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_du) for the 19 X-STRs in all individuals were 0.999999999999761, 0.9999999999999999999993951, 0.999999964841617, 0.999999999997261, 0.999999999997297, and 0.999999993623172, respectively. Besides, genetic polymorphisms of seven linkage clusters ranged from 0.9381 to 0.9963. In addition, these seven groups showed high polymorphism information content (PIC), PDM, PDF, MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_duo. Population genetic analyses of Guizhou Dong and another 17 reference populations showed that the Guizhou Dong group had close genetic relationships with surrounding Tai–Kadai-speaking, Hmong-Mien-speaking, and Han groups. Nineteen X-STRs displayed high genetic diversities and could be employed for forensic personal identification and paternity analysis in the Guizhou Dong group. Close genetic affinities between Guizhou Dong and surrounding populations were observed based on the 19 X-STRs in 17 reference populations.

Sui people are officially recognised people living in southwest China, but there has been a lack of genetic research, especially based on mitochondrial DNA data. To study the sequences and haplogroups of the mitochondrial DNA control region in a typical Sui population, with the aim of helping to promote the establishment of a forensic DNA analysis reference database in East Asia. We analysed 201 Sui individuals and observed the sequences of the mitochondrial DNA control region. We calculated and explained the haplotype frequencies, haplogroup distribution and pairwise Fst values between the Sui and 47 other populations in the world, in order to explore genetic polymorphisms and population relationships. 161 haplotypes were found in the Sui population, with frequencies of 0.0049–0.0199. All samples were assigned to 80 different haplogroups. The haplotype diversity and random matching probability were 0.999938 and 0.024729, respectively. The pairwise Fst values and correlation p-values of 48 populations showed that the Sui population was most closely related to the Miao population in Guizhou and the Han population in Henan, and closer to the Punjab population and Pukhtunkhwa population in Pakistan, and was significantly different from the other 43 groups. Compared with the other 43 groups, it is relatively isolated. Our results show that the study of mitochondrial DNA based on the analysis of matrilineal genetic structure of the Sui population can help to promote the establishment of a forensic DNA reference database in East Asia and provide reference for future anthropological research.

Y-chromosomal short tandem repeats (Y-STRs) are widely used in paternity identification, pedigree investigation, and human population genetic history. To investigate the Y-STR polymorphisms in a typical Miao population, and explore the genetic differentiation between the Miao population and reference groups. We detected 36 Y-STRs genotyping in 455 unrelated Miao individuals from Guizhou province, and analysed genetic differentiation between the Miao population and 76 reference groups. A total of 369 alleles were obtained, and the allele frequencies ranged from 0.0022 to 0.9802. In addition, the haplotype diversity, random match probability, and discrimination capacity values were 0.99997, 0.0022, and 0.9934, respectively. Moreover, the genetic relationships between Guizhou Miao and 76 ethnic populations showed that the population stratification was almost consistent with geographic distribution and language-family. The 36 Y-STR loci in this study have good polymorphism distributions in the Guizhou Miao population, and therefore would be a useful tool in forensic identification and male parentage testing and even pedigree investigation.

Y-chromosomal short tandem repeats (Y-STRs) are widely used in paternity identification, pedigree investigation, and human population genetic history. To investigate the Y-STR polymorphisms in a typical Miao population, and explore the genetic differentiation between the Miao population and reference groups. We detected 36 Y-STRs genotyping in 455 unrelated Miao individuals from Guizhou province, and analysed genetic differentiation between the Miao population and 76 reference groups. A total of 369 alleles were obtained, and the allele frequencies ranged from 0.0022 to 0.9802. In addition, the haplotype diversity, random match probability, and discrimination capacity values were 0.99997, 0.0022, and 0.9934, respectively. Moreover, the genetic relationships between Guizhou Miao and 76 ethnic populations showed that the population stratification was almost consistent with geographic distribution and language-family. The 36 Y-STR loci in this study have good polymorphism distributions in the Guizhou Miao population, and therefore would be a useful tool in forensic identification and male parentage testing and even pedigree investigation.