论文部分内容阅读
[目的]研究四川省凉山地区藏、汉族线粒体DNA(mtDNA)的SNP遗传多态性。[方法]采用长聚合酶链反应的方法扩增出40例藏族和50例汉族人的完整mtDNA,测序后用Network软件进行单核苷酸多态性(SNР)分析。[结果]单倍群M和单倍群N在藏人和汉人中差异无统计学意义(χ2=1.076,P=0.3),但是单倍群M的亚群M9(χ2=5.029,P﹤0.05)和D(χ2=5.350,P﹤0.05)差异有统计学意义。发现在的线粒体不同区域,藏、汉族之间有显著性差异的21处多态位点,多为转换,少数为颠换,其中包含T3394C、G4491A、C5178A、G13135A均引起氨基酸发生变化。[结论]对藏、汉族mtDNA的全基因组进行SNР分析可揭示两个群体间的基因特征,为mtDNA数据库提供资料。
[Objective] The research aimed to study SNP genetic polymorphism of mitochondrial DNA (mtDNA) in Tibetan and Han nationality in Liangshan area of Sichuan Province. [Method] The complete mtDNA of 40 cases of Tibetan and 50 Han were amplified by polymerase chain reaction and sequenced. The single nucleotide polymorphisms (SNPs) were analyzed by Network software. [Results] The haplogroup M and haplogroup N had no significant difference between Tibetans and Han (χ2 = 1.076, P = 0.3), but the subgroup M9 of haplogroup M (χ2 = 5.029, P <0.05 ) And D (χ2 = 5.350, P <0.05), the difference was statistically significant. Among the 21 polymorphic loci found in different regions of mitochondria, Tibetans and Han nationality, most of them were transitional ones, and a few were transversion, including T3394C, G4491A, C5178A and G13135A, all of which caused amino acid changes. [Conclusion] The SNP analysis of the whole genome of mtDNA in Tibetan and Han population revealed the genetic characteristics of the two populations and provided data for mtDNA database.