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目的探讨广西仫佬族人群线粒体DNA高变Ⅰ区的多态性特征,了解仫佬族群体的母系遗传结构。方法收集91例仫佬族无关男性个体的外周血样本,目标序列用引物L15947和R16488进行PCR扩增,用ABI3730测序仪正反向测序;计算多态性位点、核苷酸多态性、平均配对差异数目等多态性指标,以及仫佬族与各民族之间的遗传距离,ME法构建遗传进化树。结果与修正后的剑桥标准序列(rCRS)比对,91例样本的线粒体高变Ⅰ区序列共界定了74种单倍型,核苷酸多态性为0.0188±0.010,平均核苷酸差异为6.618±3.154;遗传距离显示仫佬族与南方各少数民族及南方汉族的亲缘关系较近,与北方汉族的亲缘关系较远,进化树中仫佬族与南方少数民族聚为一类。结论仫佬族在母系遗传上属于典型的南方侗傣族群,可能经历过群体扩张或选择效应;高变Ⅰ区序列具有较高的多态性,可用于法医个体识别、民族起源等方面的研究。
Objective To investigate the polymorphism of mitochondrial DNA hypervariable region Ⅰ in Gelao population of Guangxi and to understand the maternal genetic structure of Gelao population. Methods Totally 91 peripheral blood samples from Mulao unrelated males were collected. The target sequence was amplified by PCR using primers L15947 and R16488, sequenced by forward and reverse ABI3730 sequencer, and the polymorphism sites, nucleotide polymorphisms, Average number of paired differences and other polymorphic indicators, as well as the Gelao nationality and the genetic distance between each ethnic group, ME method to construct the phylogenetic tree. The results were compared with the modified rCRS, 74 haplotypes were identified in 91 samples, and the nucleotide polymorphism was 0.0188 ± 0.010. The average nucleotide difference was 6.618 ± 3.154. The genetic distance showed that the Mulao people had close genetic relationship with all ethnic minorities in South China and the Han ethnicity in the South, and they were distantly related to Han people in northern China. Mulam and the southern ethnic minorities in the phylogenetic tree were clustered together. Conclusion The Mulao people belong to the typical Dong Dai nationality in the maternal line and may have experienced the effect of population expansion or selection. The hypervariable region Ⅰ sequence has high polymorphism and can be used for the study of forensic individual identification and ethnic origin .