云南怒族线粒体DNA D-环高变区Ⅱ遗传多态性研究

Study on polymorphism of mitochondrial DNA D-loop HVRⅡ region from Yunnan Nu ethnic population

目的观察中国云南怒族群体线粒体DNA D-环高变区Ⅱ(HVRⅡ)单核苷酸多态性(single nucleotide polymorphism,SNP)的群体遗传特点,为法医学鉴定提供线粒体DNA序列多态性的基础数据。方法应用ABI3730型遗传分析仪,PCR产物直接测序法,对65名中国云南怒族无关个体血液中利用chelex-100法提取的线粒体DNA D-环高变区Ⅱ进行序列分析。结果在线粒体DNA高变区Ⅱ(HVRⅡ)73～366之间与Anderson序列比较,云南怒族65名无关个体共发现有59个单倍型,401个突变点。SNP基因差异度为0.995 7,核苷酸多态性为0.117 4。结论云南怒族线粒体DNA D-环区HVRⅡSNP具有高度多态性,是对怒族群体的个体识别、亲权鉴定以及民族起源分子研究有用的遗传标记。

Objective To investigate the mitochondrial DNA D-loop region HVR Ⅱ single nucleotide polymorphism （SNP） of Nu ethnic population from Yunnan Province of China and to provide basic database of mtDNA sequence polymorphism for forensic identification purpose. Methods Genomic DNA from the whole blood of 65 unrelated individuals from Nu ethnic population living in Yunnan Province of China was extracted by standard chelex-100. The sequence polymorphism was analyzed by PCR-based assay with ABI 3730 Analyzer to detect the number of relatively common point mutations. Results We compared the mtDNA HVR Ⅱ 73-366 with the Anderson sequence; 59 SNP loci were observed among them with 401 point mutations identified in mtDNA of 65 individual Nu ethnic population. The genetic diversity was estimated to be 0. 9957, and the random match probability was calculated to be 0. 1174. Conclusion The result suggests that mtDNA HVRⅡ SNP database of Nu ethnic population can be an useful tool for forensic individual identification, paternity test and national origin research.