Genetic analysis of 19 X chromosome STR loci for forensic purposes in four Chinese ethnic groups

Abstract

A new 19 X- short tandem repeat (STR) multiplex PCR system has recently been developed, though its applicability in forensic studies has not been thoroughly assessed. In this study, 932 unrelated individuals from four Chinese ethnic groups (Han, Tibet, Uighur and Hui) were successfully genotyped using this new multiplex PCR system. Our results showed significant linkage disequilibrium between markers DXS10103 and DXS10101 in all four ethnic groups; markers DXS10159 and DXS10162, DXS6809 and DXS6789, and HPRTB and DXS10101 in Tibetan populations; and markers DXS10074 and DXS10075 in Uighur populations. The combined powers of discrimination in males and females were calculated according to haplotype frequencies from allele distributions rather than haplotype counts in the relevant population and were high in four ethnic groups. The cumulative powers of discrimination of the tested X-STR loci were 1.000000000000000 and 0.999999999997940 in females and males, respectively. All 19 X-STR loci are highly polymorphic. The highest Reynolds genetic distances were observed for the Tibet-Uighur pairwise comparisons. This study represents an extensive report on X-STR marker variation in minor Chinese populations and a comprehensive analysis of the diversity of these 19 X STR markers in four Chinese ethnic groups.

Forensic characterization and genetic polymorphisms of 19 X-chromosomal STRs in 1344 Han Chinese individuals and comprehensive population relationship analyses among 20 Chinese groups

“…China, composed of 56 officially recognized ethnic groups and a population over 1,404 billion, harbors substantial genetic, linguistic, physical, cultural and diversity [ 30 , 31 ] (1.2 billion Hans, 10.5 million Huis, 10 million Uyghurs, 9.4 million Miaos, 8.7 million Yis, 6.2 million Tibetans, 1.4 million Lis, 1.4 million Kazakhs, 0.55 million Gelaos, 0.19 million Xibes, and others ( https://en.wikipedia.org/wiki/Han_Chinese ). Here, to implement X-STR typing into routine forensic practice and establish Chinese reference database as well as investigate genetic diversity and forensic characteristics of Han Chinese population, we newly generated 19 X-STRs data from 206 Guizhou Han subjects ( S1 Table ) and combined previously published 4868 genotypes [ 19 – 27 , 29 ], the dataset from 20 Chinese populations belonging to four language families: Sino-Tibetan includes Sinitic branch (Han [ 22 , 25 , 26 ] and Hui [ 25 ]) and Tibeto-Burman branch (Tibetan [ 20 , 25 , 27 ], Yi [ 19 ]); Tai-Kadai (Gelao, Li); Hmong-Mien (Miao [ 29 ]); Altaic comprises Turkic (Uyghur [ 20 , 21 , 25 ], Kazakh [ 23 ]), Tungusic (Xibe [ 24 ]). To characterize the genetic diversity of Han Chinese population, we then obtained 1344 genotypes of 19 X-chromosomal STRs in Han Chinese population from four different geographical administrations (Guizhou: 206, Sichuan [ 22 ]: 201, Hainan: 155, Guanzhong [ 26 ]: 474 and South China [ 25 ]: 308).…”

“…We used the Reynolds’s and Nei’s pairwise genetic distances, as well as Fst and corresponding p values to estimate the genetic differences and similarities using the PHYLIP version 3.5 packages [ 40 ] and Arlequin software (version 3.5.2) [ 32 ]. We first compared the genetic relationships of Guizhou Han and other four Han Chinese populations from different geographical regions [ 22 , 25 , 26 ] as well as other 15 Chinese previously published minorities [ 20 , 21 , 23 – 25 , 27 – 29 ]. And then we investigated the genetic relation between the Meta-Han and other 15 reference populations [ 19 – 27 , 29 ].…”

“…However, genetic variants of the X-STRs in Guizhou Han remains uninvestigated. To get a more complete picture of human X-chromosomal STRs of in China (especially for Han Chinese population), we genotyped 206 Guizhou Han individuals using AGCU X19 system and merged our newly-generated dataset with four publically available datasets of Han Chinese populations from different administrative divisions [ 22 , 25 , 26 ] (Dataset Ⅰ referred to as Meta-Han Chinese population consisting of 1344 individuals). We also merged our dataset with data from other 15 populations belonging to other language families (Dataset Ⅱ comprises 5074 Chinese individuals) [ 20 , 21 , 23 – 25 , 27 – 29 ] to investigate the genetic relationships between Han or Meta-Han Chinese population and other Chinese minority groups.…”

Peer Review #2 of "Genetic polymorphisms and forensic efficiency of 19 X-chromosomal STR loci for Xinjiang Mongolian population (v0.2)"

“…And Yang et al had indicated it could be used as a supplementary tool in kinship tests in China (Yang et al 2016). Further, genetic polymorphisms of this X-STR system have been investigated in a number of populations (Liu et al 2017;Meng et al 2017;Yang et al 2017;Zhang et al 2016). In the present study, we used this 19 X-STR multiplex PCR system to obtain genetic information from Western Mongols, including the allele frequencies and forensic parameters of these 19 X-STR loci, the haplotypic diversities of 7 X-STR linkage groups.…”

“…), Kazak(Liu et al 2017), Inner Mongolian(Tao et al 2018), Japanese(Uchigasaki et al 2013), Shanghai Han(Zhang et al 2012), Bhil(Shrivastava et al 2015), Malay(Samejima et al 2012), Taiwanese(Chen et al 2014), Ili Uygur(Guo et al 2016), Guanzhong Han(Zhang et al 2016), Tibetan(Yang et al 2017), Southern Han(Yang et al 2017), Hui(Yang et al 2017) and Korla Uygur(Yang et al 2017). For a better understanding, the geographical PeerJ reviewing PDF | (2017:09:20809:2:1:CHECK 4 Jun 2018)…”