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Single nucleotide polymorphisms of mitochondrial DNA HVS‐I and HVS‐II in Chinese Bai ethnic group
Author(s) -
Chen Feng,
Yin CaiYong,
Qian XiaoQin,
Fan HanTing,
Deng YaJun,
Zhang YuDang,
Meng HaoTian,
Shen ChunMei,
Yang ChunHua,
Jin Rui,
Zhu BoFeng,
Xu Peng
Publication year - 2015
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201400493
Subject(s) - mitochondrial dna , hypervariable region , haplotype , genetics , biology , nucleotide diversity , genetic diversity , ethnic group , human mitochondrial genetics , population , phylogenetic tree , evolutionary biology , gene , genotype , demography , sociology , anthropology
For forensic and population genetic purposes, a total of 125 unrelated volunteers’ blood samples were collected from Chinese Bai ethnic minority group to analyze sequence variation of two hypervariable segments (HVS‐I and HVS‐II) in the mitochondrial DNA control region. Comparing the HVS‐I and HVS‐II sequences of the 125 Chinese Bais to the Anderson reference sequence, we found 86 polymorphic loci in HVS‐I and 40 in HVS‐II in mitochondrial DNA sequences of the Chinese Bai ethnic minority group, which defined 93 and 53 different haplotypes, respectively. Haplotype diversity and the mean pairwise differences were 0.992 ± 0.003 and 6.553 in HVS‐I, and 0.877 ± 0.027 and 2.407 in HVS‐II, respectively. We defined four macrohaplogroups R, M, N and D with the proportions ranging from 9.6% to 40.0%. With the analysis of the hypervariable domain from nucleotide 16 180–16 193 in HVS‐I, our study revealed new haplotypes of sequence variations. In addition, the Fst metric, phylogenetic tree, and principal component analysis demonstrated a close genetic relationship between the Bai group and Chinese Han populations from South China, Changsha, and Guangdong. The results support that the Bai group is a multiorigin ethnic minority that has merged with the Chinese Han population.

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