Genetic polymorphism analysis of mitochondrial DNA from Chinese Xinjiang Kazak ethnic group by a novel mitochondrial DNA genotyping panel
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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.
KeywordsmtDNA 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.
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.
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.
- 3.Holland MM, Parsons TJ (1999) Mitochondrial DNA sequence analysis—validation and use for forensic casework. Forensic Sci Rev 11(1):21–50Google Scholar
- 4.Wittig H, Augustin C, Baasner A, Bulnheim U, Dimo-Simonin N, Edelmann J, Hering S, Jung S, Lutz S, Michael M, Parson W, Poetsch M, Schneider PM, Weichhold G, Krause D (2000) Mitochondrial DNA in the Central European population. Human identification with the help of the forensic mt-DNA D-loop-base database. Forensic Sci Int 113(1–3):113–118CrossRefGoogle Scholar
- 5.Holland MM, Cave CA, Holland CA, Bille TW (2003) Development of a quality, high throughput DNA analysis procedure for skeletal samples to assist with the identification of victims from the World Trade Center attacks. Croatian Med J 44(3):264–272Google Scholar
- 6.Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F, Taha A, Shaari NK, Raja JM, Ismail P, Zainuddin Z, Goodwin W, Bulbeck D, Bandelt HJ, Oppenheimer S, Torroni A, Richards M (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308(5724):1034–1036. https://doi.org/10.1126/science.1109792 CrossRefGoogle Scholar
- 13.Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, Osipova LP, Andreenkov OV, Tabikhanova LE, Gubina MA, Labuda D, Schurr TG (2008) Genetic variation in the enigmatic Altaian Kazakhs of south-central russia: insights into turkic population history. Am J Phys Anthropol 136(3):278–293. https://doi.org/10.1002/ajpa.20802 CrossRefGoogle Scholar
- 17.Nei M, Tajima F (1981) DNA polymorphism detectable by restriction endonucleases. Genetics 97(1):145–163Google Scholar
- 22.King JL, Larue BL, Novroski NM, Stoljarova M, Seo SB, Zeng XP, Warshauer DH, Davis CP, Parson W, Sajantila A, Budowle B (2014) High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSEq. Forensic Sci Int 12:128–135. https://doi.org/10.1016/j.fsigen.2014.06.001 CrossRefGoogle Scholar
- 23.Bodner M, Iuvaro A, Strobl C, Nagl S, Huber G, Pelotti S, Pettener D, Luiselli D, Parson W (2015) Helena, the hidden beauty: resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample. Forensic Sci Int 15:21–26. https://doi.org/10.1016/j.fsigen.2014.09.012 CrossRefGoogle Scholar
- 28.Alves-Silva J, Santos MS, Pena SD, Prado VF (1999) Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians. Hum Biol 71(2):245–259Google Scholar
- 29.Barthold VV (1962) Four studies on the history of Central Asia, vol 3. Brill Publishers, LeidenGoogle Scholar
- 30.Millward JA (2007) Eurasian crossroads: a history of Xinjiang. Columbia University Press, New YorkGoogle Scholar
- 31.Perdue PC (2005) China marches west: the qing conquest of Central Eurasia. Harvard University Press, CambridgeGoogle Scholar
- 32.Lattimore O (1950) Pivot of Asia; Sinkiang and the inner Asian frontiers of China and Russia. Little, Brown and Company, BostonGoogle Scholar
- 34.Conquest R (1987) The harvest of sorrow: soviet collectivization and the terror-famine. Oxford University Press, OxfordGoogle Scholar
- 35.The Annals of the American Academy of Political and Social Science, vol 277 (2010). vol 276–278. American Academy of Political and Social ScienceGoogle Scholar
- 36.The Annals of the American Academy of Political and Social Science, Volume 277 (2012) A group of Kazakhs, originally numbering over 20000 people when expelled from Sinkiang by Sheng Shih-ts’ai in 1936, was reduced, after repeated massacres by their Chinese coreligionists under Ma Pu-fang, to a scattered 135 people. American Academy of Political and Social ScienceGoogle Scholar