Abstract
We analyzed the genetic polymorphisms of 54 mitochondrial DNA (mtDNA) variants in Chinese Xibe ethnic minority group. A total of 137 unrelated healthy volunteers from Chinese Xibe group were the objects of our study. Among the selected loci, there were 51 variable positions including transitions and transversions, and single nucleotide transitions were common (83.93%) versus transversions. These variations defined 64 different mtDNA haplotypes exclusive of (CA)n and 9 bp deletion variation. The haplotype diversity and discrimination power in Xibe population were 0.9800 ± 0.004 and 0.9699, respectively. Besides, we compared Xibe group with 18 other populations and reconstructed a phylogenetic tree using Neighbor-Joining method. The result revealed that Xibe group was a close to Xinjiang Han and Yanbian Korean groups. Our data also indicated that Xibe group has a close relationship with Daur and Ewenki groups, which is reflected by the history that Xibe was influenced by Daur and Ewenki groups during the development of these groups. In conclusion, the variants we studied are polymorphic and could be used as informative genetic markers for forensic and population genetic application.
Highlights
Genetic analysis of human mitochondrial DNA is an important and indispensable part in population genetic studies all over the world
The 54 selected mitochondrial DNA (mtDNA) variants were successfully detected in all samples of the Chinese Xibe ethnic minority group, and the allele frequencies were showed in Table 1 while other 6 variants (nt8697, 8701, 8793, 8794, (CA)n and 9 bp) were excluded for vaguely genotypic results or localized application ((CA)n and 9 bp)
At nt5178, nt7196 and nt13928 variants, the polymorphisms were caused by transversion
Summary
Genetic analysis of human mitochondrial DNA (mtDNA) is an important and indispensable part in population genetic studies all over the world. Frequencies of certain mtDNA sequence variations in a given population play an important role in the field of forensic genetics. Xibe as an ethnic minority group, is officially recognized by China. It had a population of 190,481 according to the latest China population census in 2010. The Xibe people in northeast (Jilin and Liaoning provinces) and northwest (Xinjiang Uygur Autonomous Region) China have obvious characteristics due to the different geographical locations. We collected the data of 54 mtDNA variants in Xibe ethnic group in order to study genetic polymorphisms in the field of forensic science and infer the genetic relationships between Xibe and other groups
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