June 03, 2007

mtDNA variation in France

I had posted before about the paucity of population genetic data from France, perhaps the most under-represented major European nation in human population genetic research. Thankfully, a new study goes some way to rectify this.

Ann Hum Biol. 2007 Jan-Feb;34(1):68-79.

An mtDNA perspective of french genetic variation.

Richard C, Pennarun E, Kivisild T, Tambets K, Tolk HV, Metspalu E, Reidla M, Chevalier S, Giraudet S, Lauc LB, Pericic M, Rudan P, Claustres M, Journel H, Dorval I, Muller C, Villems R, Chaventre A, Moisan JP.

Laboratoire d'Etude du Polymorphisme de l'ADN, Faculte de Medecine, Nantes, France.

BACKGROUND: The French has been insufficiently characterized so far for mitochondrial DNA (mtDNA) diversity. AIMS: The study aimed to enhance the information available for the French mtDNA pool and to explore the potential microgeographical differentiation of two French regions selected for their linguistic and historical idiosyncrasies. SUBJECTS AND METHODS: A total of 868 samples from 12 different locations in France were collected. They were sequenced for the hypervariable segment I (HVS-I) and typed for haplogroup defining markers from the coding region either by restriction fragment length polymorphism (RFLP) or by a new protocol based on the 5' nuclease allelic discrimination. The mtDNA gene pools of French Basques and Bretons were compared in terms of frequency and composition with relevant neighbouring populations. RESULTS: The French Basques' mtDNA pool shares some common features with that of the Spanish Basques, such as the high frequency of haplogroup H. However, the French Basques exhibit a number of distinct features, most notably expressed in the prevalence of haplogroups linked with the Neolithic diffusion in Europe. In Brittany, Finistere shows closer affinities with Britain and Scandinavia than the two other departments of Brittany. CONCLUSION: The mtDNA haplogroup composition of the French does not differ significantly from the surrounding European genetic landscape. At a finer grain, microgeographical differentiation can be revealed, as shown for the French Basque country and for Brittany.

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