Rufeng Bai

Haplotype diversity of 17 Y-STR loci in a Chinese Han population sample from Shanxi Province, Northern China

The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region.

Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province, Central China

We analyzed haplotypes for 24 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and 7 additional STRs (DYS388, DYS444, DYS447, DYS449, DYS522 and DYS527a/b) in 1100 unrelated Chinese Han individuals from Henan Province using AGCU Y24 STR kit systems. The calculated average gene diversity (GD) values ranged from 0.4105 to 0.9647 for the DYS388 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 72.91% with 802 observed haplotypes using 17 Yfiler loci, by the addition of 7 Y-STRs to the Yfiler system, the DC was increased to 79.09% while showing 870 observed haplotypes. Among the additional 7 Y-STRs, DYS449, DYS527a/b, DYS444 and DYS522 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Han origin populations and showed significant differences from other Non-Han populations. In the present study, we report 24 Y-STR population data in Henan Han population, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity.

Haplotype diversity of 22 Y-chromosomal STRs in a southeast China population sample (Chaoshan area)

In this study, 22 Y-specific STR loci (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS461, DYS481, DYS504, DYS505, DYS508, DYS533, DYS576, DYS588, DYS607, DYS634, and DYS643) were analyzed in 216 unrelated male individuals from southeast China (Chaoshan area) by three multiplex PCR systems. The haplotype diversity using the classical set of Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, and DYS385; PowerPlexY Systems) was 0.9908. For the same population sample, the haplotype diversity using the new sets of 11 novel Y-STRs (DYS461, DYS481, DYS504, DYS505, DYS508, DYS533, DYS576, DYS588, DYS607, DYS634, and DYS643; multiplex I and II) was 0.9917. By combining the allelic states of the 22 Y-STR loci we could construct highly informative haplotypes that allowed the discrimination of 99.1% (214 out of 216) of the samples tested and the overall haplotype diversity of 0.9999. These results, including the haplotype data at 22 Y-STR loci in the present study, provide useful information for forensic practice in the Chaoshan population in southeast China.

Y-chromosomal STRs haplotypes in Chinese Manchu ethnic group

Haplotype frequencies for 11 Y-chromosomal short tandem repeats (STRs) included in the PowerPlex Y Systems (Promega) were determined in a sample of 275 unrelated healthy male individuals of Chinese Manchu ethnic group living in Liaoning (northeast of China). A total of 238 haplotypes were identified, of which 215 were unique, 14 were found in two individuals, 6 were shared in three individuals, 1 was shared in four individuals, and 2 were shared in five individuals. The observed haplotype diversity value and discrimination capacity were 0.9985 and 0.8654, respectively.

Y-chromosomal STRs haplotypes in Chinese Hui ethnic group samples

Haplotype frequencies for 11 Y-chromosomal short tandem repeats (STRs) included in the PowerPlex Y Systems (Promega) were determined in a sample of 204 unrelated healthy male individuals of Chinese Hui ethnic group living in Liaoning (northeast of China). A total of 187 haplotypes were identified, of which 174 were unique, 11 was found in two individuals, 1 were shared in three individuals and 1 was shared in five individuals. The observed haplotype diversity value and discrimination capacity were 0.9990 and 0.9167, respectively.

Polymorphism of 17 Y-STR loci in Shanxi Han population and genetic relationship with 13 populations

To investigate the genetic polymorphisms of 17 Y-chromosomal short tandem repeats (Y-STR) loci in Shanxi Han population and to explore their forensic application values and genetic relationship with neighboring populations, 17 Y-STR in 222 unrelated healthy Shanxi Han individuals were amplified with Y-filerTM System, and the PCR products were detected with 3130 Genetic Aanalyzer. The allele frequencies and haplotype diversity were calculated. Y-STR data of another 13 populations were collected from publications. Cluster analysis and phylogenic trees were applied to show the genetic distance among the populations. As a result, a total of 219 haplotypes were identified, and the observed haplotypes diversity value was 0.9999. The gene diversity values (GD) for each locus ranged from 0.3894 (DYS391) to 0.9755 (DYS385a/b). Comparing with 13 populations, the genetic distance between Shanxi and Jihei Han populations was the smallest (0.0001), while the genetic distance between Shanxi and Taiwan population was the largest (0.0152). The phylogenetic tree was similar to the results of clustering analysis. Multiplex detection of the 17 Y-STR loci revealed a highly polymorphic genetic distribution, which would be very powerful for establishing a Y-STR database, for population genetics and forensic practice.

Haplotype data for 27 Y-chromosomal STR loci in the Chaoshan Han population, South China

We analyzed haplotypes for 27 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci and ten additional STRs(DYS449, DYS460, DYS481, DYS533, DYS518, DYS570, DYS576, DYS627, and DYF387S1a/b) in 778 unrelated individuals from Chinese Chaoshan Han using the STRtyper-27 Y systems. We reported the genetic diversity of male lineages in Chaoshan Han population at a high-resolution level of 27 Y-STR set and consequently contributed to familial searching, offender tracking, and anthropology analysis of Chaoshan Han population.

Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing: Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing

To study the genetic diversities of 30 insertion-deletion (InDel) polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were investigated to determine the distributions of allele frequencies by using Investigator DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis software. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the loci. The power of discrimination (DP) varies between 0.2690 (HLD118) and 0.6330 (HLD45), and the combined discrimination power (TDP) for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases (CPE(trio)) and 0.94579456 in duo cases (CPE(duo)). The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.