Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus M L, Wallace D C
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Genetics. 1996 Dec;144(4):1835-50. doi: 10.1093/genetics/144.4.1835.
Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis. About 99% of the mtDNAs were subsumed within 10 mtDNA haplogroups (H, I, J, K, M, T, U, V, W, and X) suggesting that the identified haplogroups could encompass virtually all European mtDNAs. Because both hypervariable segments of the mtDNA control region were previously sequenced in the Tuscan samples, the mtDNA haplogroups and control region sequences could be compared. Using a combination of haplogroup-specific restriction site changes and control region nucleotide substitutions, the distribution of the haplogroups was surveyed through the published restriction site polymorphism and control region sequence data of Caucasoids. This supported the conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations. The classification of almost all European mtDNA variation in a number of well defined haplogroups could provide additional insights about the origin and relationships of Caucasoid populations and the process of human colonization of Europe, and is valuable for the definition of the role played by mtDNA backgrounds in the expression of pathological mtDNA mutations.
通过聚合酶链反应（PCR）扩增和限制性分析，对芬兰人、瑞典人和托斯卡纳人的线粒体DNA（mtDNA）序列变异进行了检测。约99%的mtDNA被归入10个mtDNA单倍群（H、I、J、K、M、T、U、V、W和X），这表明所识别的单倍群几乎可以涵盖所有欧洲人的mtDNA。由于之前已对托斯卡纳样本中的mtDNA控制区的两个高变区进行了测序，因此可以对mtDNA单倍群和控制区序列进行比较。利用单倍群特异性限制性位点变化和控制区核苷酸替换的组合，通过已发表的高加索人种限制性位点多态性和控制区序列数据，对单倍群的分布进行了调查。这支持了以下结论：在欧洲观察到的大多数单倍群是高加索人种特有的，并且其中至少一些在不同的高加索人种群体中以不同频率出现。将几乎所有欧洲mtDNA变异分类到一些明确的单倍群中，可为高加索人种群体的起源和关系以及人类在欧洲的殖民过程提供更多见解，并且对于定义mtDNA背景在病理性mtDNA突变表达中所起的作用很有价值。
