摘要
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
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第4期246-248,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
重大项目基金