Inner and inter population structure construction of Chinese Jiangsu Han population based on Y23 STR system

Abstract

In this study, we analyzed the genetic polymorphisms of 23 Y-STR loci from PowerPlex® Y23 system in 916 unrelated healthy male individuals from Chinese Jiangsu Han, and observed 912 different haplotypes including 908 unique haplotypes and 4 duplicate haplotypes. The haplotype diversity reached 0.99999 and the discrimination capacity and match probability were 0.9956 and 0.0011, respectively. The gene diversity values ranged from 0.3942 at DYS438 to 0.9607 at DYS385a/b. Population differentiation within 10 Jiangsu Han subpopulations were evaluated by RST values and visualized in Neighbor-Joining trees and Multi-Dimensional Scaling plots as well as population relationships between the Jiangsu Han population and other 18 Eastern Asian populations. Such results indicated that the 23 Y-STR loci were highly polymorphic in Jiangsu Han population and played crucial roles in forensic application as well as population genetics. For the first time, we reported the genetic diversity of male lineages in Jiangsu Han population at a high-resolution level of 23 Y-STR set and consequently contributed to familial searching, offender tracking, and anthropology analysis of Jiangsu Han population.

Genetic diversities and phylogenetic analyses of three Chinese main ethnic groups in southwest China: A Y-Chromosomal STR study

“…Calculation of Rst values between our studied subjects and seven meta-populations 19 , 23 , 35 – 43 (combination on the basis of national or local boundaries) further reveal the partial population substructure between large-scale geographic divisions. As shown in Supplementary Table S11 , the pairwise Rst values range from 0.0020 to 0.2257 for Zunyi Han, from 0.0171 to 0.3375 for Qiandongnan Miao, from 0.0016 to 0.2888 for Qiannan Bouyei.…”

“…3589 Y-STR haplotypes consisting of 23 markers from 11 Chinese populations 19 , 23 , 35 , 43 are used to investigate the degree of differentiation between our studied three subjects and other 8 Han Chinese populations (including Minnan Han, Beijing Han, Jiangsu Han, Xuanwei Han, Shanghai Han, Hunan Han, China Han and Southern Han) via analysis of molecular variance (AMOVA), Multidimensional scaling plots (MDS) and phylogenetic relationship reconstruction. Supplementary Table S7 lists the Rst values among 11 groups and shows that the largest genetic distance is observed between Qiandongnan Miao and Shanghai Han (Rst = 0.0777).…”

“…To further explore the genetic background between the newly studied populations and 58 reference populations from all overall Asian 19 , 23 , 35 – 43 , we included 27 mainland Chinese populations, three Indian populations, four Japanese populations, two Korean populations, one Mongolian population, three Singaporean population, nine Taiwanese populations, and nine Thai populations in the comprehensive population comparisons. In pairwise population comparisons with our studied subjects, the Rst values span from −0.0003 (Xuanwei Han) to 0.4026 (Taiwan Tsou) in Zunyi Han, from 0.0079 (Northern Thai) to 0.4683 (Taiwan Tsou) in Qiandongnan Miao, from −0.0054 (Thailand Shan) to 0.4485 (Taiwan Tsou) in Qiannan Bouyei (Supplementary Table S10 ).…”

“…Thus, we conducted a more comprehensive population genetic comparisons based on more Y-STRs (23) to dissect the genetic relationships of worldwide populations and Chinese nationwide populations. In this study, we conducted the population comparisons to investigate the detailed genetic background of our focuses (Zunyi Hans, Qiandongnan Miaos and Qiannan Bouyeis) as well as explore the genetic relationships among 30 mainland Chinese populations (Han Chinese and minority populations) 19 , 23 , 35 – 43 , 58 Asian populations 19 , 23 , 35 – 43 and 89 worldwide populations 19 , 23 , 35 – 44 . Our results demonstrated that Qiannan Bouyei has a close genetic affinity with Guangxi Zhuang, as well as Zunyi Han with Hunan Han, and Qiandongnan Miao with Guizhou Shui.…”

Genetic Reconstruction and Forensic Analysis of Chinese Shandong and Yunnan Han Populations by Co-Analyzing Y Chromosomal STRs and SNPs

“…We found 10 copy number variations (CNVs): DYS518 (37/38), DYS390 (23/24), DYS437 (15/16), DYS389 I (12/13), DYS576 (19/21), DYS456 (15/16 and 17/18), DYS385 (13/19/20), and DYF387S1 (34/35/36) in other 10 samples. After searching in the YHRD database and other referenced publications [ 29 , 34 , 35 , 36 , 37 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 ], DYS570 (19.2), DYS481 (23.2), DYF387S1 (35.3/35.3, 36.3/40, 35.3/37.3, 37.3/39 and 36.3/38.3), DYS385 (12.1,13.1), DYS576 (19,21), and DYS456 (15,16) were reported for the first time. All samples with variants are co-listed with their Y haplogroup affiliations in Table S2 .…”