Classification of European mtDNAs From an Analysis of Three European Populations

Genetics - Tập 144 Số 4 - Trang 1835-1850 - 1996
Antonio Torroni1,2, Kirsi Huoponen1, Paolo Francalacci3, M. Petrozzi2, Laura Morelli3, Rosaria Scozzari4,2, Domenica Obinu3, Marja‐Liisa Savontaus5, Douglas C. Wallace1
1Department of Genetics and Molecular Medicine, Emoly University School of Medicine, Atlanta, Georgia 30322
2Dipartimento di Genetica e Biologia Molecolare, Universita' di Roma “La Sapienza,” 00185 Rome, Italy
3Istituto di Antropologia, Universita' di Sassari, 07100 Sassari, Italy
4Centra di Genetica Evoluzionistica, C.N.R., Rome, Italy
5Department of Medical Genetics, University of Turku, 20520 Turku, Finland

Tóm tắt

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

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Genetics

Tập 144 Số 4

1835-1850

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