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Classification of European mtDNAs from an analysis of three European populations

Torroni, Antonio and Huoponen, Kirsi and Francalacci, Paolo and Petrozzi, Maurizio and Morelli, Laura Cornelia Clotilde and Scozzari, Rosaria and Obinu, Domenica Anna and Savontaus, Marja-Liisa and Wallace, Douglas C. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics, Vol. 144 (4), p. 1835-1850. eISSN 1943-2361. Article.

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Abstract

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.

Item Type:Article
ID Code:3964
Status:Published
Refereed:Yes
Uncontrolled Keywords:Mithochondrial DNA, DNA classification, European population
Subjects:Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Zoologia e genetica evoluzionistica
Publisher:Genetics Society of America
eISSN:1943-2361
Deposited On:26 May 2010 12:32

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