Ballinger S W, Schurr T G, Torroni A, Gan Y Y, Hodge J A, Hassan K, Chen K H, Wallace D C
Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322.
Genetics. 1992 Jan;130(1):139-52. doi: 10.1093/genetics/130.1.139.
Human mitochondrial DNAs (mtDNAs) from 153 independent samples encompassing seven Asian populations were surveyed for sequence variation using the polymerase chain reaction (PCR), restriction endonuclease analysis and oligonucleotide hybridization. All Asian populations were found to share two ancient AluI/DdeI polymorphisms at nps 10394 and 10397 and to be genetically similar indicating that they share a common ancestry. The greatest mtDNA diversity and the highest frequency of mtDNAs with HpaI/HincII morph 1 were observed in the Vietnamese suggesting a Southern Mongoloid origin of Asians. Remnants of the founding populations of Papua New Guinea (PNG) were found in Malaysia, and a marked frequency cline for the COII/tRNA(Lys) intergenic deletion was observed along coastal Asia. Phylogenetic analysis indicates that both insertion and deletion mutations in the COII/tRNA(Lys) region have occurred more than once.
利用聚合酶链反应（PCR）、限制性内切酶分析和寡核苷酸杂交技术，对来自包括七个亚洲人群的153个独立样本的人类线粒体DNA（mtDNA）进行了序列变异调查。发现所有亚洲人群在核苷酸位置10394和10397处共享两个古老的AluI/DdeI多态性，并且在基因上相似，表明他们有共同的祖先。在越南人当中观察到最大的mtDNA多样性以及具有HpaI/HincII形态1的mtDNA的最高频率，这表明亚洲人起源于南方蒙古人种。在马来西亚发现了巴布亚新几内亚（PNG）奠基人群体的遗迹，并且在亚洲沿海地区观察到COII/tRNA（Lys）基因间缺失的明显频率渐变群。系统发育分析表明，COII/tRNA（Lys）区域的插入和缺失突变都不止发生过一次。
