摘要
人类线粒体DNA(mtDNA)COⅡ /tRNAlys区有两个 9-bp(CCCCCTCTA)的串联重复序列 ,此重复序列中一个重复单位的缺失 ,在亚太地区人群中很普遍。对 2 1 0名山东荣成人的mtDNACOⅡ /tRNAlys区的 9-bp缺失情况进行了检测 ,并从中随机选取 95个样本 ,利用PCR-RFLP法对另外 5个区进行了多态性分析 ,以确定其单倍型。结果表明 ,荣成人 9-bp缺失频率为 1 2 4% ,相对于已检测的中国其他群体 ,此缺失频率处于中等水平。同时多态性分析也表明在 95个被检测对象中存在 2 7种不同的单倍型。此外还发现了两个未报道过的新酶切位点 。
The loss of one copy of two 9 bp repeats in mtDNA non coding region V is often found in Asia and Pacific populations. Two hundred and ten samples from Rongcheng county, Shandong province were detected with the deletion frequency of 12.4%. A distribution map of frequencies of mtDNA 9 bp deletion among Asian and Pacific population was made with reference to other published data. Further discussion was made for the hypotheses of affinity and original model of those populations. PCR RFLP was conducted to obtain the mtDNA polymorphism information in five other mtDNA regions except the 9 bp deletion in 95 samples. Twenty seven different mtDNA haplotypes were found, and the relationships among these haplotypes have been analyzed by using MEGA2.0 and PHYLIP 3.57. Two new RFLP sites caused by point mutation were also found, which have not been reported in Chinese populations.
基金
中国科学院生物科学与生物技术发展局特别支持项目
