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Am J Hum Genet. 1998 May;62(5):1137-52. doi: 10.1086/301822.
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本文引用的文献

1
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.芬兰患有Leber遗传性视神经视网膜病变的家族中的线粒体DNA单倍型分析。
Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9.
2
The myth of bumpy hunter-gatherer mismatch distributions.狩猎采集者分布不均衡的错误观念。
Am J Hum Genet. 1997 Oct;61(4):980-3. doi: 10.1086/514878.
3
Mitochondrial footprints of human expansions in Africa.人类在非洲扩张的线粒体印记。
Am J Hum Genet. 1997 Sep;61(3):691-704. doi: 10.1086/515503.
4
Sequence variation of mitochondrial DNA control region in Koreans.韩国人线粒体DNA控制区的序列变异
Forensic Sci Int. 1997 Jun 6;87(2):99-116. doi: 10.1016/s0379-0738(97)02114-2.
5
Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis.通过Y染色体DNA分析揭示的亚洲人和北欧人的遗传关系。
Am J Hum Genet. 1997 May;60(5):1174-83.
6
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.单倍型和系统发育分析表明,一种欧洲特有的线粒体DNA背景通过增加原发性突变11778和14484的外显率,在Leber遗传性视神经病变的表达中发挥作用。
Am J Hum Genet. 1997 May;60(5):1107-21.
7
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.携带线粒体DNA谱系上11778或14484突变的白种人Leber遗传性视神经病变患者的聚类分析
Am J Hum Genet. 1997 Feb;60(2):381-7.
8
mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool.现代奥吉布瓦人的线粒体DNA和Y染色体特异性多态性:对其基因库起源的启示
Am J Hum Genet. 1997 Jan;60(1):241-4.
9
Classification of European mtDNAs from an analysis of three European populations.通过对三个欧洲人群的分析对欧洲线粒体DNA进行分类。
Genetics. 1996 Dec;144(4):1835-50. doi: 10.1093/genetics/144.4.1835.
10
High mitochondrial sequence diversity in linguistic isolates of the Alps.阿尔卑斯山语言孤立群体中的高线粒体序列多样性。
Am J Hum Genet. 1996 Dec;59(6):1363-75.

线粒体DNA分析揭示了旧石器时代晚期一个从欧洲西南部向东北部的主要人口扩张。

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe.

作者信息

Torroni A, Bandelt H J, D'Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus M L, Bonné-Tamir B, Scozzari R

机构信息

Dipartimento di Genetica e Biologia Molecolare, Universitá di Roma "La Sapienza," Rome, Italy.

出版信息

Am J Hum Genet. 1998 May;62(5):1137-52. doi: 10.1086/301822.

DOI:10.1086/301822
PMID:9545392
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1377079/
Abstract

mtDNA sequence variation was studied in 419 individuals from nine Eurasian populations, by high-resolution RFLP analysis, and it was followed by sequencing of the control region of a subset of these mtDNAs and a detailed survey of previously published data from numerous other European populations. This analysis revealed that a major Paleolithic population expansion from the "Atlantic zone" (southwestern Europe) occurred 10,000-15,000 years ago, after the Last Glacial Maximum. As an mtDNA marker for this expansion we identified haplogroup V, an autochthonous European haplogroup, which most likely originated in the northern Iberian peninsula or southwestern France at about the time of the Younger Dryas. Its sister haplogroup, H, which is distributed throughout the entire range of Caucasoid populations and which originated in the Near East approximately 25,000-30,000 years ago, also took part in this expansion, thus rendering it by far the most frequent (40%-60%) haplogroup in western Europe. Subsequent migrations after the Younger Dryas eventually carried those "Atlantic" mtDNAs into central and northern Europe. This scenario, already implied by archaeological records, is given overwhelming support from both the distribution of the autochthonous European Y chromosome type 15, as detected by the probes 49a/f, and the synthetic maps of nuclear data.

摘要

通过高分辨率限制性片段长度多态性(RFLP)分析,对来自9个欧亚人群的419名个体的线粒体DNA(mtDNA)序列变异进行了研究,随后对这些mtDNA中的一部分进行了控制区测序,并详细调查了许多其他欧洲人群先前发表的数据。该分析表明,末次盛冰期之后,约10,000 - 15,000年前,发生了一次从“大西洋区域”(欧洲西南部)开始的重大旧石器时代人口扩张。作为这次扩张的mtDNA标记,我们确定了单倍群V,这是一个欧洲本土单倍群,最有可能起源于末次冰消期较晚阶段的伊比利亚半岛北部或法国西南部。它的姐妹单倍群H,分布于整个高加索人群范围,约在25,000 - 30,000年前起源于近东地区,也参与了这次扩张,因此使其成为西欧目前最常见(40% - 60%)的单倍群。末次冰消期较晚阶段之后的后续迁徙最终将那些“大西洋”mtDNA带到了中欧和北欧。考古记录已暗示了这种情况,探针49a/f检测到的欧洲本土Y染色体类型15的分布以及核数据的综合图谱都提供了压倒性的支持。