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Open Access Highly Accessed Research article

Genetic diversities of cytochrome B in Xinjiang Uyghur unveiled its origin and migration history

Abdurahman Ablimit1, Wenbei Qin1, Wenjuan Shan1, Weiwei Wu2, Fengjun Ling3, Kaitelynn H Ling4, Changjie Zhao45, Fuchun Zhang1, Zhenghai Ma1* and Xiufen Zheng1467*

Author Affiliations

1 Life science and technology, Xinjiang University, Xinjiang Key Laboratory of Biological Resources and Genetic Engineering, Urumqi 830046, China

2 DNA Laboratory, Institute of Forensic Science of Zhejiang, Hangzhong, China

3 Beijing Entry-Exit Inspection and Quarantine Bureau, Beijing, China

4 Department of Pathology, University of Western Ontario, London, Ontario N6A 5A5, Canada

5 Central University of Finance & Economics, Beijing, China

6 Lawson Health Research Institute, London, Canada

7 University of Western Ontario, Lawson Health Research Institute, London, Canada

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BMC Genetics 2013, 14:100  doi:10.1186/1471-2156-14-100

Published: 9 October 2013



Uyghurs are one of the many populations of Central Eurasia that is considered to be genetically related to Eastern and Western Eurasian populations. However, there are some different opinions on the relative importance of the degree of Eastern and Western Eurasian genetic influence. In addition, the genetic diversity of the Uyghur in different geographic locations has not been clearly studied.


In this study, we are the first to report on the DNA polymorphism of cytochrome B in the Uyghur population located in Xinjiang in northwest China. We observed a total of 102 mutant sites in the 240 samples that were studied. The average number of mutated nucleotides in the samples was 5.126. A total of 93 different haplotypes were observed. The gene diversity and discrimination power were 0.9480 and 0.9440, respectively. There were founder and bottleneck haplotypes observed in Xinjiang Uyghurs. Xinjiang Uyghurs are more genetically related to Chinese population in genetics than to Caucasians. Moreover, there was genetic diversity between Uyghurs from the southern and northern regions. There was significance in genetic distance between the southern Xinjiang Uyghurs and Chinese population, but not between the northern Xinjiang Uyghurs and Chinese. The European vs. East Asian contribution to the ten regional Uyghur groups varies among the groups and the European contribution to the Uyghur increases from north to south geographically.


This study is the first report on DNA polymorphisms of cytochrome B in the Uyghur population. The study also further confirms that there are significant genetic differences among the Uyghurs in different geographical locations.

Mitochondrial DNA; Cytochrome B; Uyghur; Genetic diversity