中国北方汉族人mtDNA D环多态性研究

A study on polymorphism of mitochondrial DNA D loop in the Han nationality in China

目的探讨中国汉族人群ｍｔＤＮＡＤ环遗传多态性及平均核苷酸歧异频率。方法应用聚合酶链反应技术扩增ｍｔＤＮＡＤ环４６５ｂｐ高变区ＤＮＡ片段，分别进行６种限制性内切酶１０个位点的限制性片段长度多态性分析，部分标本进行聚合酶链反应产物直接自动测序分析。结果６种限制性内切酶１０个位点的限制性片段长度多态性分析结果共产生１４种限制性类型，根据Ｎｅｉ公式计算出汉族人ｍｔＤＮＡＤ环平均核苷酸歧异频率为０．０２９１。结论Ｄ环区较ｍｔＤＮＡ平均核苷酸岐异频率明显增高。

Objective To investigate the polymorphism of mitochondrial DNA D loop in the Han nationality in China and the mean nucleic acid substitute frequency on each site. Methods A 465bplong DNA fragment in mtDNA D loop was amplified by PCR technique and the polymorphism was analyzed by RFLP using 6 restriction enzymes(on 10 sites). Some samples were analyzed by direct sequencing of PCR products. Results RFLP analyses with 6 restriction enzymes on the 10 sites generated 14 restriction types. The calculated mean nucleic acid substitute frequency (based on Nei formula) on each site of mtDNA D loop in the Han nationality in China was 0.029. Conclusion The mean nucleic acid substitute frequency on each site in the D loop region was 10 times as high as that in mtDNA