Xing Zou

Genetic polymorphism investigation of the Chinese Yi minority using PowerPlex® Y23 STR amplification system

Twenty-three Y-STR loci (DYS576, DYS389I, DYS389 II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS393, DYS458 DYS456, DYS643, Y-GATA-H4, and DYS385a/b) included in the next-generation PowerPlex® Y23 System were first investigated in 311 unrelated, healthy male individuals from the Yi minority population residing in the Liangshan Yi Autonomous Prefecture, Sichuan, China. A total of 179 alleles and 297 haplotypes were discovered in the Yi group. In total, 285 haplotypes among them were unique, and the remaining 12 haplotypes were observed in two or three individuals. Haplotype discrimination capacity and haplotype diversity were 0.9550 and 0.9989, respectively. Genetic diversity ranged from 0.4550 (DYS437) to 0.9556 (DYS385a/b). Population comparisons between the Yi minority group and 10 Asian meta-populations comprising 58 individual populations were performed. Both multidimensional scaling plots and phylogenetic analyses demonstrated that the genetic structure of the Chinese Yi ethnicity was extremely different compared to Taiwan indigenous inhabitants among 10 Asian meta-populations. Additionally, the genetic structure resemblance of the Yi group was obtained from a geographically close population (Xuanwei Han) or similar language family groups (Thai populations). Besides, our study has demonstrated that the PowerPlex® Y23 System has high polymorphism in a Chinese Yi ethnic population and high discriminatory power for forensic purposes. Population data of the 23 Y-STR obtained from a Yi ethnic population has enriched the Chinese ethnic genetic information.

Forensic characteristics and phylogenetic analyses of the Chinese Yi population via 19 X-chromosomal STR loci

The demographic characteristics and genetic polymorphism data of 56 Chinese nationalities or 31 administrative divisions in Chinese mainland have repeatedly been the genetic research hotspots. While most genetic studies focused on some particular Chinese populations based on autosomal or Y-chromosomal genetic markers, the forensic characteristics and phylogenetic analyses of the seventh largest Chinese population (Yi ethnicity) on the X-chromosomal genetic markers are scarce. Here, allele frequencies and forensic statistical parameters for 19 X-chromosomal short tandem repeat loci (DXS7424-DXS101, DXS6789-DXS6809, DXS7423-DXS10134, DXS10103-HPRTB-DXS10101, DXS10159-DXS10162-DXS10164, DXS10148-DXS10135-DXS8378, and DXS7132-DXS10079-DXS10074-DXS10075) of 331 Chinese Yi individuals were obtained. All 19 X-chromosomal short tandem repeat (STR) loci in females were consistent with the Hardy-Weinberg equilibrium test. A total of 214 alleles were identified with the corresponding allele frequencies spanned from 0.0019 to 0.6106. The combined PE, PDF, and PDM were 0.9999999214, 0.9999999999999999999993, and 0.9999999999998, respectively. The high combined MECKrüger, MECKishida, MECDesmarais, and MECDesmarais Duo were achieved as 0.9999999617638, 0.9999999999971, 0.9999999999971, and 0.9999999931538, respectively. The findings suggested that the panel of 19 X-STR loci is highly polymorphic and informative in the Yi ethnic population and can be considered to be a powerful tool in forensic complex kinship identification. Population differentiation analyses among 12 populations indicated that significant differences in genetic structure were observed in between the Yi ethnicity and the Chinese Uyghur as well as Kazakh, and genetic homogeneity existed in similar ethno-origin or geographic origin populations.

Phylogenetic analysis among 27 Chinese populations and genetic polymorphisms of 20 autosomal STR loci in a Chinese Uyghur ethnic minority group

Abstract 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 specificity. Phylogenetic analysis based on 19 shared loci demonstrated that the Uyghur had a close genetic relationship with the Kazakh, but a distinct genetic distance with other Chinese populations from different ethnicity and regions.

Genetic polymorphisms for 19 X-STR loci of Sichuan Han ethnicity and its comparison with Chinese populations

X-chromosomal short tandem repeats (X-STRs) can be serviced as a complementary tool in forensic deficiency cases and other complicated kinship identification. To investigate the genetic variation of the western Chinese Han population, genetic polymorphisms of 19 X-STR loci (DXS8378, DXS7423, DXS10148, DXS10159, DXS10134, DXS7424, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103, DXS10101, HPRTB, DXS6809, DXS10075, DXS10074 and DXS10135) included in the AGCU X19 PCR amplification kit were obtained from 201 Chinese Han individuals (108 females and 93 males) residing in Sichuan province, western China. A total of 211 alleles were found from the 19 X-STR loci, and 4-22 alleles were found for each locus with the corresponding allele frequencies spanned from 0.0034 to 0.6395. The combined PDF and PDM were 0.9999999999999999999992 and 0.9999999999997, respectively. The combined MECKrüger, MECKishida, MECDesmarais as well as MECDesmarais Duo were 0.999999958110254, 0.999999999996533, 0.999999999996695 and 0.999999992428394, respectively. The number of haplotypes observed in the seven linkage groups varied from 27 to 97 for 108 male individuals with the corresponding haplotype diversities spanned from 0.9424 (DXS7424-DXS101) to 0.9979 (DXS7132-DXS10079-DXS10075-DXS10074). The above-mentioned results indicated that the 19 X-STR loci and the seven linkage groups are highly polymorphic and informative in the Sichuan Han population. Results from population comparisons and phylogenetic analyses demonstrated that genetic heterogeneity widely existed between the Sichuan Han population and Xinjiang minority ethnic groups (Uyghur and Kazakh) and genetic affinity was identified in populations which possessed the same ethno-origin or close geographic origin.

X-chromosomal STR-based genetic structure of Sichuan Tibetan minority ethnicity group and its relationships to various groups

The X-chromosomal short tandem repeats (STRs) with more informative than autosomal STRs in some complicated biological relationships identification due to its specific mode of genetic transmission can be used as a complementary tool in forensic case practices. In this study, we presented the population genetic data of 19 X-STRs, consisting of DXS10174, DXS10075, DXS10079, DXS101, DXS10101, DXS10103, DXS10134, DXS10135, DXS10148, DXS10159, DXS10162, DXS10164, DXS6789, DXS6809, DXS7132, DXS7423, DXS7424, DXS8378, and HPRTB loci, in a sample of 235 individuals of Tibetan nationality from Sichuan province, Southwest China. All 19 X-STR loci were consistent with Hardy-Weinberg equilibrium. The results showed that the combined power of discrimination in females and males are 0.999999999999999999997 and 0.9999999999997, respectively. In addition, the mean paternity exclusion chances based on the formula of MECKrüger, MECKishida, and MECDesmarais as well as MECDesmarais Duo are 0.99999991, 0.9999999999924, 0.9999999999929, and 0.999999985, respectively. In summary, our findings suggested that the AGCU X19 kit can be considered to serve as a high polymorphic information tool for forensic identification and kinship testing in the Sichuan Tibetan population. Furthermore, population genetic structure investigation between Sichuan Tibetan population and other 19 populations using PCA, MDS, and phylogenetic tree illustrated that significant genetic difference was observed between the Sichuan Tibetan and Malay, as well as the Xinjiang Uyghur population.

Genetic polymorphisms for 19 autosomal STR loci of Chongqing Han ethnicity and phylogenetic structure exploration among 28 Chinese populations

The allele frequencies and forensic statistical parameters of 19 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, THOl, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA, D6S1043, Penta D, Penta E, and D12S391) included in the Goldeneye™ DNA ID system 20A kit were obtained in 671 Chinese Han individuals residing in Chongqing, Southwest China. All 19 STR loci were identified in agreement with the Hardy-Weinberg equilibrium. A total of 238 alleles were observed with corresponding allele frequencies that varied from 0.0007 to 0.5119. The combined power of discrimination and the combined probability of exclusion for 19 STR loci in the Chongqing Han population were 0.99999999999999999999998954 and 0.99999998387, respectively. The findings indicated that the 19 autosomal STR loci were highly polymorphic in the Chongqing Han population and can be used as a powerful tool in personal identification and parentage testing. Our genetic study enriched the Chinese local forensic reference database. Population comparisons and phylogenetic analyses revealed that genetic heterogeneity widely existed among the Chongqing Han, Xinjiang Uyghur, and Kazakh populations as well as demonstrated that genetic similarity was tightly associated with those of close geographic origin or of the same ethnic origin.

Genetic diversity and phylogenetic characteristics of Chinese Tibetan and Yi minority ethnic groups revealed by non-CODIS STR markers

Non-CODIS STRs, with high polymorphism and allele frequency difference among ethnically and geographically different populations, play a crucial role in population genetics, molecular anthropology, and human forensics. In this work, 332 unrelated individuals from Sichuan Province (237 Tibetan individuals and 95 Yi individuals) are firstly genotyped with 21 non-CODIS autosomal STRs, and phylogenetic relationships with 26 previously investigated populations (9,444 individuals) are subsequently explored. In the Sichuan Tibetan and Yi, the combined power of discrimination (CPD) values are 0.9999999999999999999 and 0.9999999999999999993, and the combined power of exclusion (CPE) values are 0. 999997 and 0.999999, respectively. Analysis of molecular variance (AMOVA), principal component analysis (PCA), multidimensional scaling plots (MDS) and phylogenetic analysis demonstrated that Sichuan Tibetan has a close genetic relationship with Tibet Tibetan, and Sichuan Yi has a genetic affinity with Yunnan Bai group. Furthermore, significant genetic differences have widely existed between Chinese minorities (most prominently for Tibetan and Kazakh) and Han groups, but no population stratifications rather a homogenous group among Han populations distributed in Northern and Southern China are observed. Aforementioned results suggested that these 21 STRs are highly polymorphic and informative in the Sichuan Tibetan and Yi, which are suitable for population genetics and forensic applications.

Genetic variation and forensic characterization of highland Tibetan ethnicity reveled by autosomal STR markers

Understanding the origin and genetic background of Chinese high-altitude Tibetans play a pivotal role in medical genetics, archeology, anthropology, and forensics. In this study, to investigate the forensic characterization and genetic diversity of Chinese Tibetan, allele frequencies and corresponding forensic statistical parameters of 15 autosomal STRs included in the AmpFℓSTR® Sinofiler™ kit were obtained from 1220 Tibetan individuals residing in Lhasa country, Tibet Autonomous Region. We identified 191 alleles with corresponding allele frequencies varied from 0.0004 to 0.3984. The combined probability of discrimination and the combined probability of exclusion are 0.9999999999999999997 and 0.9999996, respectively. Our study provided the valuable dataset for forensic individual identification and parentage testing in the high-altitude Tibetan population. In addition, comprehensive population comparisons among 30 Chinese populations via PCA, AMOVA, MDS, and N-J tree demonstrated that the genetic components of Tibet Tibetan have received gene introgression from surrounding lowland populations (Such as Gansu Hui and Yunnan Bai) and Tibetan keeps the close genetic relationship with geographic neighboring populations.

Genetic variations and forensic characteristics of Han Chinese population residing in the Pearl River Delta revealed by 23 autosomal STRs

Pearl River Delta, known as the Chinese “South Gate”, locates adjacent to Hong Kong and Macao, and across the sea from the Southeast Asian region. Herein, 4325 unrelated Han Chinese individuals residing in the Pearl River Delta region were recruited and genotyped with 23 autosomal STRs (the expanded CODIS core loci plus D6S1043, Penta D and Penta E). No evidence of deviation from Hardy–Weinberg equilibrium after Bonferroni correction was observed. The combined match probability and combined power of exclusion were 1.7829 × 10−28 and 0.9999999996, respectively. Next, population comparisons among ethnically, linguistically, and geographically diverse populations (11 Chinese populations based on genotypes of same 23 autosomal STRs, 46 Chinese nationwide populations based on allele frequency distributions of 19 autosomal STRs and 51 worldwide populations on the basis of 20 autosomal STRs) were performed via Structure, MDS, PCA and neighbor-joining tree. Genetic heterogeneities among Chinese nationalities along ethno-linguistic boundaries (Turkic-speaking, Tibeto-Burman-speaking, and Chinese-speaking populations) and geographic divisions (North-Han and South-Han) have been illustrated by first two autosomal microsatellite datasets. The results from worldwide population genetic relationship exploration based on 20 autosomal STRs demonstrated that genetic affinity has existed within ethnical and geographical close populations.

Genetic structure and polymorphisms of Gelao ethnicity residing in southwest china revealed by X-chromosomal genetic markers

X-chromosome short tandem repeat markers (X-STRs), due to their special inheritance models, physical location on a single chromosome and the absence of recombination in male meiosis, play an important role in forensic and population genetics. While a series of genetic analyses focusing on the genetic diversity and forensic characteristics of X-STRs are well studied for ethnically/linguistically diverse and demographically large Chinese populations, genetic evidence from Gelao ethnicity is still sparse. Here, we genotyped the first batch of 19 X-STRs in 513 Chinese Gelao individuals (265 females and 248 males), and reported genetic polymorphisms, forensic characteristics based on the single locus and seven linkage groups. DXS10135 with the highest PIC (0.9106) and LG1 (DXS10148-DXS10135-DXS8378) with the largest HD (0.9970) are polymorphic and informative. The CPDs in Gelao males and females are respectively larger than 0.999999999997095 and 0.99999999999999999999918, and the combined MECs are larger than 0.999999975715109. Subsequently, we investigated the population relationships among 14 Chinese populations based on 19 X-STRs and among 23 populations based on 11 overlapped X-STRs. Our results revealed genetic differentiations among Tibeto-Burman, Altaic and other Chinese homogenous populations, and demonstrated that Guizhou Gelao has the genetically closer relationships with Han Chinese and geographically close Guizhou Miao.