Elsevier

Legal Medicine

Volume 29, November 2017, Pages 6-12
Legal Medicine

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

https://doi.org/10.1016/j.legalmed.2017.09.001Get rights and content

Highlights

  • 201 of Han Chinese population samples were typed by AGCU X19 multiplex PCR amplification kit.

  • AGCU X19 multiplex PCR amplification kit was informative and polymorphic in the Sichuan Han population.

  • Our results demonstrated that AGCU X19 can be used a powerful tool in complicated forensic kinship identification.

  • Population comparisons revealed that genetic heterogeneity was identified between the Sichuan Han population and Xinjiang minority ethnic groups (Uyghur and Kazakh).

Abstract

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.

Introduction

Short tandem repeat loci located on the X-chromosome (X-STR) have been evidenced to possess a wide range of forensic utilizations, especially in complicated kinship identification [1]. Because of its characteristic inheritance along with gender, X-STR played a complementary role in forensic analysis using autosomal, Y-chromosomal or mitochondrial genetic markers [2]. Recently, more and more X-STR loci were detected and developed as X-chromosomal STR amplification kit which can be applied in forensic science and population genetic study. The commercially available forensic X-chromosomal typing kit of the AGCU X19 can type 19 X-STR loci comprising seven linkage groups (DXS8378-DXS10148-DXS10135 [3], DXS10159-DXS10164-DXS10162 [4], DXS7132-DXS10079-DXS10075-DXS10074 [5], DXS6789-DXS6809 [6], DXS7424-DXS101 [7], DXS10103-DXS10101-HPRTB [5] and DXS7423-DXS10134 [8]) in one multiplex amplification [9].

Population data on the 19 X-STR loci and population relationship characteristics revealed by X-STR were relatively lack in the Chinese populations consisted of 56 ethnic groups. The Chinese Han ethnic group, with a population more than 1.240 billion, was widely distributed in different administrative divisions in the mainland of the People's Republic of China. The aims of our study were to investigate genetic polymorphisms of the aforementioned X-STR loci in the Sichuan Han population and explore the genetic relationships between the Sichuan Han population and other 11 reference Chinese populations.

Section snippets

Population

In the present study, a total of 201 blood samples (93 females and 108 males) of the Chinese Han population were obtained from Sichuan Province, western China (Fig. 1). Our study protocol was approved by the medical ethics committee of Sichuan University and informed contents of all subjects who have lived in Sichuan at least three generations were obtained before sample collection.

Extraction

Peripheral blood (400 μL) was collected in EDTA tubes by syringe needle. Human genomic DNA was extracted using the

Forensic characteristics

Tables S1 and S2 listed the genotypes of 108 male and 93 female individuals residing in Sichuan Province. As indicated in Table 1, no departure from the Hardy-Weinberg Equilibrium testing was detected in female individuals after Bonferroni adjustment (p < 0.0026). Pairwise linkage disequilibrium testing was performed in both female population (Table S3) and male population (Table S4). After Bonferroni correction, only the male data showed the deviation from linkage equilibrium between the

Conclusions

In summary, genetic polymorphisms of 19 X-STR loci included in AGCU X19 PCR amplification kit in the Chinese Western Han population were investigated. All X-STR loci and linkage groups are informative and highly polymorphic in the Sichuan Han population, which can be used as a complementary tool in the forensic applications, especially in deficiency cases and other complicated kinship identification. In addition, the results from population comparisons and phylogenetic analyses demonstrated that

Conflict of interests

None.

Acknowledges

This study was supported by the Sichuan Science and Technology Support Program (2014SZ0012).

References (24)

  • R. Szibor et al.

    Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing

    Int. J. Legal Med.

    (2005 Nov)
  • M. Samejima et al.

    Population genetic study of six closely linked groups of X-STRs in a Japanese population

    Int. J. Legal Med.

    (2011)
  • Cited by (27)

    • Genetic polymorphisms of 16 X-STR loci analyzed in the Han population of Yunnan Province, Southwest China

      2022, Legal Medicine
      Citation Excerpt :

      We further sought to explore the genetic differences between the Yunnan Han population and Han and minority groups in other regions based on previously reported data. Hence, the Yunnan Han population was compared with the Henan Han [12], Shanghai Han [13], Guizhou Han [14], Sichuan Han [15], Hunan Han [16], Xinjiang Kazakh [17], Xinjiang Uyghur [18], Xinjiang Mongolian [19], Inner Mongolia Mongolian [20], Guangxi Mulao [21], Guangxi Zhuang [21], Guizhou Sui [22], Guizhou Bouyei [23], Guizhou Miao [24], Sichuan Tibetan [25], Sichuan Yi [26], Qinghai Tibetan [20], Zhejiang She [27], Yunnan Bai [28], Yunnan Miao [29] and Hani [30] populations based on the allele frequencies of 7 overlapping loci. Nei’s genetic distance was calculated, and the results are listed in supplementary Table S6.

    • Forensic genetic polymorphisms of 16 X-STR loci in the Yunnan Miao population and their relationship to other Chinese groups

      2021, Legal Medicine
      Citation Excerpt :

      Therefore, these 16 X-STR loci exhibited high or medium polymorphism and can be used as genetic markers in human identity testing and paternity testing in the Miao minority population in Yunnan, China. To better understand the genetic background of the Yunnan Miao population, the allele frequencies of X-STR loci in the Yunnan Miao population were compared to the available data of twenty other groups, including Yunnan Bai [11], Yunnan Hani [unpublished data], Zhejiang She [12], Guizhou Miao [13], Sichuan Yi [14], Guangxi Zhuang [15], Guangxi Mulao [15], Guizhou Bouyei [16], Xinjiang Kazakh [17], Xinjiang Uyghur [18], ShangHai Han [19], Hunan Han [20], Sichuan Han [21], Guizhou Han [22], Henan Han [23], Xinjiang Mongolian [24], Guizhou Sui [25], Sichuan Tibetan [26], Qinghai Tibetan [27] and Inner Mongolia Mongolian populations [27], based on the allele frequencies of seven overlapping-STR loci (DXS8378, HPRTB, DXS7132, DXS7424, DXS10134, DXS10159 and DXS6789). The calculated Nei’s genetic distances between populations ranged from 0.004837 to 0.138254, and detailed information is listed in supplementary Table S7.

    • Population genetics, diversity, forensic characteristics of four Chinese populations inferred from X-chromosomal short tandem repeats

      2020, Legal Medicine
      Citation Excerpt :

      Besides, the combined MECs were greater than 0.9999999776074 (Desmarais_duos), 0.9999999997082 (Desmarais), 0.9999999996053 (Kishida) and 0.9999999659581 (Krüger). To investigate the genetic relationships and population structure among 23 included Chinese populations [4,11,12,14–20], 53.942% genetic variation could be extracted by the first three components (PC1: 25.304%, PC2: 18.817% and PC3: 9.821%). Two-dimensional plots according to the combinations of genetic variations of PC1 and PC2 (Fig. 1A) and PC2 and PC3 (Fig. 1B) separated 23 populations into three main clusters, which is in accordance with the Chinese linguistic classification.

    View all citing articles on Scopus
    View full text