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目的 通过分析线粒体基因组序列 ,进一步了解中国人线粒体基因多态性特点。方法在 4个中国汉族个体的线粒体基因组全长 16 5 6 9bp进行分段PCR和荧光测序的基础上 ,针对发现的7个未报道的新单碱基变异 ,以识别变异的限制性内切酶和通过引物变动人工增加识别位点的方法 ,对这些变异进行 10 0个正常人对照的PCR 限制酶切分析。结果 发现 5个未经MITOMAP收录或发表的线粒体基因序列变化 :C2 98T、C6 38G、C32 0 6T、A6 32 3G和C6 32 6T ,均属多态性位点 ,基因频率分别为 :17.6 5 %、32 .0 4%、6 2 .77%、33.33%和 32 .2 6 %。结论 5个新发现的多态性位点 ,1个位于线粒体基因组调控区 (C2 98T) ,2个位于编码蛋白MTCO1区 (A6 32 3G、C6 32 6T) ,另外两个分别位于编码 12S和16S的rRNA区 (C6 38G和C32 0 6T) ,为在中国人中首先报道的多态性
Objective To further understand the characteristics of mitochondrial gene polymorphism in China by analyzing mitochondrial genome sequences. Methods Based on the segmented PCR and fluorescent sequencing of 16 5 6 9 bp of the mitochondrial genome of 4 Chinese Han individuals, 7 unreported new single-base mutations were identified and the mutated restriction enzymes And PCR-restriction analysis of 10 0 normal human controls for these variations were performed by manually increasing the number of recognition sites by primer changes. The results showed that the sequences of five mitochondrial DNA sequences without MITOMAP were polymorphic: C2 98T, C6 38G, C32 0 6T, A6 32 3G and C6 32 6T, with the frequencies of 17.6% , 32.04%, 62.77%, 33.33% and 32.26% respectively. CONCLUSIONS: Five newly discovered polymorphic sites, one in the mitochondrial genome regulatory region (C2 98T), two in the MTCO1 coding region (A6 32 3G, C6 32 6T) and the other two in the coding regions 12S and 16S The rRNA region (C6 38G and C32 0 6T) is the first reported polymorphism in Chinese