Phylogeographic differentiation of mitochondrial DNA in Han Chinese
Phylogeographic differentiation of mitochondrial DNA in Han Chinese
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DOI：
10.1086/338999
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发表时间：
2002-03-01
影响因子：
9.8
通讯作者：
Zhang, YP
中科院分区：
文献类型：
--
作者：
Yao, YG;Kong, QP;Zhang, YP
为了研究中国地区汉族人线粒体DNA的变异，我们对其控制区的两个高变区和编码区10171-10659位核苷酸的高变区进行了测序，并通过直接测序或限制性片段长度多态性试验鉴定了一些特异的编码区突变。这使我们能够定义新的单倍群(mtDNA系统发育的分支)，并在系统发育的基础上剖析汉族mtDNA池，这是任何细粒度的系统地理分析、解释古代mtDNA或未来完整的mtDNA测序工作的先决条件。研究中的一些单倍群在不同省份的频率有很大差异。与中部和北部省份相比，最南端的省份在地区汉族mtDNA池中表现出更明显的对比。在汉人身上观察到的线粒体DNA单倍群的这些地理分布特征使得旧石器时代最初的殖民从南到北是可能的，但这可能表明中国后来的迁徙事件主要是从北到南和从东到西进行的。将所有地区汉族mtDNA池合并到一个虚构的一般线粒体DNA池中，或者选择一个或两个地区汉族人口来代表所有汉族人，无论是出于史前考量，还是出于法医目的或医学疾病研究，都是不合适的。
To characterize the mitochondrial DNA (mtDNA) variation in Han Chinese from several provinces of China, we have sequenced the two hypervariable segments of the control region and the segment spanning nucleotide positions 10171-10659 of the coding region, and we have identified a number of specific coding-region mutations by direct sequencing or restriction-fragment-length-polymorphism tests. This allows us to define new haplogroups (clades of the mtDNA phylogeny) and to dissect the Han mtDNA pool on a phylogenetic basis, which is a prerequisite for any fine-grained phylogeographic analysis, the interpretation of ancient mtDNA, or future complete mtDNA sequencing efforts. Some of the haplogroups under study differ considerably in frequencies across different provinces. The southernmost provinces show more pronounced contrasts in their regional Han mtDNA pools than the central and northern provinces. These and other features of the geographical distribution of the mtDNA haplogroups observed in the Han Chinese make an initial Paleolithic colonization from south to north plausible but would suggest subsequent migration events in China that mainly proceeded from north to south and east to west. Lumping together all regional Han mtDNA pools into one fictive general mtDNA pool or choosing one or two regional Han populations to represent all Han Chinese is inappropriate for prehistoric considerations as well as for forensic purposes or medical disease studies.