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Genetic polymorphism analysis of mitochondrial DNA from Chinese Xinjiang Kazak ethnic group by a novel mitochondrial DNA genotyping panel

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Abstract

Genetic polymorphism analysis of 60 mitochondrial DNA (mtDNA) loci in Chinese Xinjiang Kazak group was conducted in this study. Blood samples from 141 unrelated healthy volunteers were randomly collected from Chinese Kazak ethnic group in Ili, Xinjiang Uygur Autonomous region. Among these mtDNA loci, single nucleotide transition was the most commonly observed variant (87.93%). A total of 25 haplogroups and 79 haplotypes were found in Kazak group, and Haplogroup D4 was the most common haplogroup (21.28%). Among the entire 79 haplotypes, 53 of them were observed for only once, 14 for twice. The haplotype diversity was 0.978 ± 0.005, and the nucleotide diversity was 0.17449. The detection of (CA)n and 9-bp deletion polymorphisms could improve the discrimination power of the mtDNA genetic marker. Moreover, Xinjiang Kazak group was compared with other previously reported groups to infer its genetic background. The present results revealed that Xinjiang Kazak ethnic group was genetically closer related to Xinjiang Uygur, Xinjiang Uzbek and Xinjiang Han populations. Meanwhile, our results also indicated the potential closer genetic relationships among Xinjiang Kazak group with Altaian Kazak as well as Xinjiang Xibe group. In conclusion, this novel mtDNA panel could be effectively utilized for forensic applications. Additionally, to further reveal the genetic background of Chinese Kazak group, more relevant populations and genetic markers should be incorporated in our future study.

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Acknowledgements

This project was supported by the National Natural Science Foundation of China (NSFC, No. 81772031), GDUPS (2017). The authors sincerely thank all the volunteers for providing blood samples and Southern Medical University for providing the research platform.

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Author notes

  1. Tong Xie and Li Hu have contributed equally to this work as first author.

  2. Feng Chen and Bo-Feng Zhu have contributed equally to this work as the corresponding author.

Authors and Affiliations

  1. School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, People’s Republic of China

    Tong Xie & Bo-Feng Zhu

  2. Department of Forensic Medicine, Nanjing Medical University, Nanjing, 210029, Jiangsu, China

    Li Hu & Feng Chen

  3. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi’an Jiaotong University, Xi’an, Shaanxi, People’s Republic of China

    Yu-Xin Guo & Bo-Feng Zhu

  4. Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi’an Jiaotong University, Xi’an, Shaanxi, People’s Republic of China

    Yu-Xin Guo & Bo-Feng Zhu

  5. College of Medicine & Forensics, Xi’an Jiaotong University Health Science Center, Xi’an, 710061, Shaanxi, People’s Republic of China

    Yu-Xin Guo & Bo-Feng Zhu

  6. State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, People’s Republic of China

    Yu-Chun Li

  7. Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China

    Yu-Chun Li

  8. Kunming Key Laboratory of Healthy Aging Molecular Mechanism Study, Kunming, 650223, China

    Yu-Chun Li

  9. KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, 650223, China

    Yu-Chun Li

Authors
  1. Tong Xie
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  2. Li Hu
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  3. Yu-Xin Guo
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  4. Yu-Chun Li
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  5. Feng Chen
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  6. Bo-Feng Zhu
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Corresponding authors

Correspondence to Feng Chen or Bo-Feng Zhu.

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Conflict of interest

The authors have declared no conflicts of interest.

Ethical approval

Blood samples were obtained respectively according to standard procedures. The study was conducted in accordance with the human and ethical research principles of Southern Medical University and Xi’an Jiaotong University, China.

Informed consent

All volunteers gave their written informed consents before inclusion.

Research involving human and animals participants

This study involved the 141 healthy volunteers of Kazak ethnic group in Ili, Xinjiang Uygur Autonomous region.

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Xie, T., Hu, L., Guo, YX. et al. Genetic polymorphism analysis of mitochondrial DNA from Chinese Xinjiang Kazak ethnic group by a novel mitochondrial DNA genotyping panel. Mol Biol Rep 46, 17–25 (2019). https://doi.org/10.1007/s11033-018-4375-5

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  • DOI: https://doi.org/10.1007/s11033-018-4375-5

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