基于二代测序技术的浙江畲族线粒体DNA多态性

Mitochondrial DNA Polymorphism in Zhejiang She Population Based on Next Generation Sequencing

目的研究线粒体DNA(mitochondrial DNA,mtDNA)全基因组在浙江畲族的遗传多态性,探究畲族的母系遗传结构。方法对浙江畲族231名无关个体进行mtDNA全基因组测序,统计变异位点信息及单倍型多样性(haplotype diversity,HD)、个体识别率(discrimination power,DP)、随机匹配概率(random match probabilities,RMP)等群体遗传学参数。对浙江畲族样本mtDNA进行单倍群划分,并与中国其他9个群体进行母系遗传关系比较。结果在231例浙江畲族样本中共检测到8507个变异位点(702种),可划分为94个单倍群。HD、DP和RMP分别为0.9986、0.9942和0.0058。浙江畲族与南方汉族群体之间的遗传分化程度最小(Fst=0.00689),主成分分析及中介网络分析表明浙江畲族虽与广西瑶族、云南傣族、南方汉族遗传距离较近,但亦具有相对独特的遗传特征。结论mtDNA全基因组在浙江畲族中具有良好的遗传多态性,浙江畲族的遗传组分较为复杂多元,与广西瑶族、云南傣族、南方汉族的母系遗传关系较近,同时也保留了其独特的母系遗传成分。

Objective To study the genetic polymorphism of whole mitochondrial DNA(mtDNA)genomes in She population in Zhejiang and to explore the maternal genetic structure of the She population.Methods Whole mtDNA genomes of 231 unrelated individuals from She population in Zhejiang Province were sequenced.The number of mutations and population genetics parameters such as,the haplotype diversity(HD),discrimination power(DP),and random match probabilities(RMP)were analyzed.The mtDNA haplogroups of Zhejiang She population were classified,and the maternal genetic relationships between She and nine other Chinese populations were estimated.Results In 231 Zhejiang She samples,8507 mutations(702 types)were observed and the samples were classified into 94 haplogroups.The HD,DP and RMP values were 0.9986,0.9942 and 0.0058,respectively.The lowest genetic differentiation degree(Fst=0.00689)was detected between Zhejiang She population and southern Han population.Principal component analysis(PCA)and median-joining network analysis showed that the genetic distance of Zhejiang She population with Guangxi Yao,Yunnan Dai and Southern Han populations was relatively close,but the population still had some unique genetic characteristics.Conclu⁃sion The whole mtDNA genomes are highly polymorphic in Zhejiang She population.The Zhejiang She population contains complex and diverse genetic components and has a relatively close maternal genetic relationship with Guangxi Yao,Yunnan Dai and Southern Han populations.Meanwhile,Zhejiang She population has kept its unique maternal genetic components.