Forensic characteristics and population construction of two major minorities from southwest China revealed by a novel 37 Y-STR loci system

Abstract

Y-chromosome short tandem repeats (Y-STRs) have become important supplementary evidence in forensic science. Nowadays, the Y-chromosome STR haplotype reference database (YHRD) contains abundant Y-STR haplotype data from all over the world, while haplotype data of Guizhou Miao and Tujia are scarce. Hence, genetic polymorphisms of 37 Y-STRs were investigated in 446 unrelated males (206 Miao males and 246 Tujia males) residing in Guizhou Province. A total of 206 and 242 unique haplotypes with the highest diversity value of 0.9665 and 0.9470 were obtained. The heatmap, multidimensional scaling (MDS), the unweighted pair-group method with arithmetic means (UPGMA) tree and principal component analysis (PCA) based on the genetic distance (Rst) value within our studied populations and other 26 populations indicated that population structures follow the boundary of the continent. Guizhou Miao and Guizhou Tujia populations have intimate relationships with East Asian populations, especially the geographically close, similar history and the same language family populations.

Genetic history of esophageal cancer group in southwestern China revealed by Y‐chromosome STRs and genomic evolutionary connection analysis

“…The 23 reference populations were distributed around the high incidence of EC in China ( Fig. 1 ), including Han_Beijing (n = 114) [ 54 ], Han_Fujian (n = 117) [ 54 ], Han_Guangdong (n = 112) [ 54 ], Han_Guangxi (n = 104) [ 54 ], Han_Shandong (n = 85) [ 54 ], Han_Shanxi (n = 95) [ 54 ], Han_Zhejiang (n = 94) [ 54 ], Han_Jiangxi (n = 108) [ 54 ], Han_Heilongjiang (n = 89) [ 54 ], Han_Hunan (n = 98) [ 54 ], Han_Henan (n = 1411) [ 54 , 55 ], Han_Jilin (n = 88) [ 56 ], Han_Liaoning (n = 566) [ 56 ], Han_Hainan (n = 473) [ 57 ], Han_Shaanxi (n = 430) [ 58 ], Miao_Guizhou (n = 206) [ 59 ], Tujia_Guizhou (n = 246) [ 59 ], Hui_Gansu (n = 146) [ 60 ], Hui_Ningxia (n = 83) [ 60 ], Tibetan_Sichuan (n = 499) [ 61 ], Mongolian_Hohhot (n = 226) [ 62 ], Mongolian_Hulunbuir (n = 223) [ 62 ] and Mongolian_Ordos (n = 200) [ 62 ]. We calculated Φ PT and corresponding P values using AMOVA to provide a valid measure of population genetic differentiation.…”

“…A total of 15 reference populations were included for population genetic structure analysis, including Han_Beijing (n = 114) [ 54 ], Han_Guangxi (n = 104) [ 54 ], Han_Jiangxi (n = 108) [ 54 ], Han_Liaoning (n = 556) [ 56 ], Han_Hainan (n = 473) [ 57 ], Han_Shaanxi (n = 430) [ 58 ], Miao_Guizhou (n = 206) [ 59 ], Tujia_Guizhou (n = 246) [ 59 ], Hui_Gansu (n = 146) [ 60 ], Mongolian_Hohhot (n = 226) [ 62 ], Mongolian_Hulunbuir (n = 223) [ 67 ], and Mongolian_Ordos (n = 200) [ 67 ]. Our analysis showed that the frequency of the DYS393*12 allele was 0.44 in the EC high-risk population in Henan, while the rest of the EC population and the EC high-risk population possessed the high-frequency alleles DYS389I*12 and DYS393*12 (frequencies ≥0.5).…”

Comprehensive analyses of genetic diversities and population structure of the Guizhou Dong group based on 44 Y-markers

“…Population genetic analyses of Guizhou Dong and 16 reference populations are conducted by the following methods. Firstly, analysis of molecular variance (AMOVA) is used to estimate genetic distances ( R ST ) between the Guizhou Dong group and other populations (Guizhou Bouyei ( Luo et al, 2019 ), Yunnan Dai, Hunan Dong ( Shu et al, 2015 ), Guizhou Han ( Sun et al, 2019 ; Zhou et al, 2016 ), Yunnan Han ( Kwak et al, 2005 ; Yanmei et al, 2010 ; Yin et al, 2022 , 2020 ), Yunnan Hui ( Xie et al, 2019 ), Guizhou Miao ( Tang et al, 2020 ; Luo et al, 2021 ), Hulunbuir Mongolian ( Wang et al, 2019 ), Sichuan Qiang, Qinghai Salar ( Zhu et al, 2007 ), Qinghai Tibetan ( Zhu et al, 2008 ; Cao et al, 2018 ), Guizhou Tujia, Guizhou Yi ( Song et al, 2021 ), Yunnan Yi ( Zhu et al, 2006 ; Fan et al, 2019 ), Gansu Yugur and Guangxi Zhuang ( Wang et al, 2022 ; Guo et al, 2017b ) by the online tool YHRD. Next, the phylogenetic tree of these populations is constructed by the MEGA v7.0 software ( Kumar, Stecher & Tamura, 2016 ) with the method of Neighbor-Joining based on their pairwise R ST values.…”