Genetic investigation and phylogenetic analysis of three Chinese ethnic groups using 16 X chromosome STR loci

Abstract

Background: The value of using X-chromosomal short tandem repeats (X-STRs) as genetic markers in human genetics has been widely recognised. However, the 16 X-STRs in the Goldeneye^® DNA ID System 17X kit have not been thoroughly applied.

Aim: To investigate the genetic polymorphisms of 16 X-STRs in three main ethnic minorities (Tibetan, Mongolian and Kazakh) in China and to reveal the phylogenetic relationships of different populations.

Subjects and methods: A total of 245 Tibetan, 168 Mongolian and 105 Kazakh individuals were genotyped using this 17X kit. The allelic frequencies and other parameters were calculated. An additional eight Chinese populations and nine global populations were included in genetic comparisons based on 16 or 8 overlapped X-STRs.

Results: A total of 147 alleles were observed from 16 X-STRs with allelic frequencies ranging from 0.0024 to 0.7952 in the three studied groups. Based on 16 X-STRs, Tibetans, Kazakhs and Mongolians showed more similarity to each other and were genetically distinct from the Shanghai Han group; based on 8 X-STRs, only the genetic relationships between different nations could be clarified.

Conclusions: Our study presents an extensive report on a novel X-STR assay in three Chinese ethnic groups and a comprehensive genetic comparison between different populations based on these X-STRs.

KEYWORDS:

• X-chromosomal STR
• genetic polymorphism
• ethnic groups
• phylogenetic analysis

Acknowledgements

The authors wish to thank all the donors involved in this study.

Author contributions

Ruiyang Tao wrote the main manuscript and analysed the results, Jingyi Zhang and Ruocheng Xia collected and prepared the samples, Zihao Yang, Xiaochun Zhang and Qi Yang conducted the experiments, Shouyu Wang helped to revise the manuscript, Suhua Zhang and Chengtao Li designed the study. All authors reviewed the manuscript.

Disclosure statement

The authors declare that they have no competing interests.

Additional information

Funding

This work was supported by grants from the National Natural Science Foundation of China (Nos. 81625013, 81930056 and 81772028), the Shanghai Science and Technology Innovation Fund (19DZ2201400), the Shanghai Outstanding Academic Leaders Plan (2017485), and the Shanghai Talent Development Funding (2017115).