Richard Chrystelle, Pennarun Erwan, Kivisild Toomas, Tambets Kristiina, Tolk Helle-Viivi, Metspalu Ene, Reidla Maere, Chevalier Sylviana, Giraudet Stéphanie, Lauc Lovorka Barać, Pericić Marijana, Rudan Pavao, Claustres Mireille, Journel Hubert, Dorval Ian, Müller Claude, Villems Richard, Chaventré André, Moisan Jean-Paul
Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, Nantes, France.
Ann Hum Biol. 2007 Jan-Feb;34(1):68-79. doi: 10.1080/03014460601076098.
The French has been insufficiently characterized so far for mitochondrial DNA (mtDNA) diversity.
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.
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.
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, Finistère shows closer affinities with Britain and Scandinavia than the two other departments of Brittany.
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.
到目前为止，法国人群体中线粒体DNA（mtDNA）多样性的特征尚不充分。
本研究旨在增加有关法国mtDNA库的可用信息，并探索因语言和历史特性而选定的法国两个地区潜在的微观地理分化情况。
从法国12个不同地点共收集了868份样本。对其高变区I（HVS-I）进行测序，并通过限制性片段长度多态性（RFLP）或基于5'核酸酶等位基因鉴别法的新方案对编码区的单倍群定义标记进行分型。将法国巴斯克人和布列塔尼人的mtDNA基因库在频率和组成方面与相关邻近人群进行比较。
法国巴斯克人的mtDNA库与西班牙巴斯克人的mtDNA库有一些共同特征，例如单倍群H的高频率。然而，法国巴斯克人表现出一些独特特征，最显著的是与欧洲新石器时代扩散相关的单倍群的流行。在布列塔尼，菲尼斯泰尔省与英国和斯堪的纳维亚半岛的亲缘关系比布列塔尼的其他两个省份更为密切。
法国人的mtDNA单倍群组成与周边欧洲遗传格局没有显著差异。在更精细的层面上，可以揭示微观地理分化，如法国巴斯克地区和布列塔尼地区所示。
