摘要
第一部分 广西都安瑶族线粒体DNA控制区多态性研究
目的 为线粒体DNA(mitochondrial DNA, mtDNA)法医学应用提供群体遗传学数据,扩大mtDNA在个体识别中的应用范围。方法 以南方民族瑶族为研究对象,根据mtDNA控制区及周围区域的序列设计引物,用PCR产物直接测序对105份无关瑶族样本mtDNA控制区进行了测序,通过Sequencing Analysis 3.4和Seq/Ede软件分析比对,得到的序列结果,计算瑶族mtDNA单倍型的识别率,并应用MEGA 2软件对数据做进化距离分析,构建系统发育树。结果 对样本的mtDNA控制区序列进行了统计分析,共检出141个变异点,平均变异数10.5个,发现3处点异质性。整个序列个体识别率为0.9747,变异度为0.9841。除了HVⅠ、HVⅡ及HVⅢ外,发现瑶族mtDNA控制区还存在其它的相对高变区。瑶族mtDNA控制区序列与其他民族相比,均存在一定差异。系统发育树显示,瑶族大体出现5个聚类簇,每个聚类簇各有特点。结论 瑶族mtDNA控制区检出3个点异质性,并发现存在其他相对高变区。群体遗传学数据提示瑶族与蒙古人种有较近的亲缘关系。本研究为法医学及系统发育学研究提供了基础的群体遗传学数据。
Objective In order to obtain the data of sequence variation of Yao ethnic group mtDNA from Du'an of Guangxi and extend the application scope of mtDNA in idividual identification. Method 105 unrelated individuals of Yao ethnic group was selected as the investigated object. Direct sequencing of DNA amplified by PCR was used with the primers designed according to the sequence of control region and the neighbor region. Sequences were analyzed and compared base on Sequencing Analysis 3.4 and Seq/Ede software. DP of mtDNA in Yao ethnic group was calculated. MAGA2 software was also employed to analyze the genetic distance between samples and construct the phylogenentic tree. Result 141 variation site was found. The mean number of base pair with difference was 10.5. 3 sites of point heteroplasmy were detected. The genetic diversity of population samples and the discrimination power were 0.9841, 0.9747, respectively. The other hypervariable region existed except HVI, HVII and HVIII in Yao ethnic group. Compared with other ethnic groups, there were differences among them. The phylogenetic trees revealed the individuals of this ethnic group could
be divided into 5 clusters, each of which had its own characteristic. Conclusion 3 sites of point heteroplasmy were detected. Another hypervariable region was found except HVI, HVII and HVDl in Yao ethnic group. The genetic data supported Yao ethnic group was close to Mongoloid ethnic groups. The genetic data of mtDNA was valuable in the study of forensic science and phylogenetics.
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