Molecular Biology Reports

, Volume 46, Issue 1, pp 17–25 | Cite as

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

  • Tong Xie
  • Li Hu
  • Yu-Xin Guo
  • Yu-Chun Li
  • Feng ChenEmail author
  • Bo-Feng ZhuEmail author
Original Article


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.


mtDNA SNP Haplogroup Kazak 



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.

Compliance with ethical standards

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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Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.School of Forensic MedicineSouthern Medical UniversityGuangzhouPeople’s Republic of China
  2. 2.Department of Forensic MedicineNanjing Medical UniversityNanjingChina
  3. 3.Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of StomatologyXi’an Jiaotong UniversityXi’anPeople’s Republic of China
  4. 4.Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of StomatologyXi’an Jiaotong UniversityXi’anPeople’s Republic of China
  5. 5.College of Medicine & ForensicsXi’an Jiaotong University Health Science CenterXi’anPeople’s Republic of China
  6. 6.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of ZoologyChinese Academy of SciencesKunmingPeople’s Republic of China
  7. 7.Center for Excellence in Animal Evolution and GeneticsChinese Academy of SciencesKunmingChina
  8. 8.Kunming Key Laboratory of Healthy Aging Molecular Mechanism StudyKunmingChina
  9. 9.KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common DiseasesKunmingChina

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