García O, Fregel R, Larruga J M, Álvarez V, Yurrebaso I, Cabrera V M, González A M
Basque Country Forensic Genetics Laboratory, Erandio, Bizkaia, Spain.
Heredity (Edinb). 2011 Jan;106(1):37-45. doi: 10.1038/hdy.2010.47. Epub 2010 Apr 21.
It has been proposed that the distribution patterns and coalescence ages found in Europeans for mitochondrial DNA (mtDNA) haplogroups V, H1 and H3 are the result of a post-glacial expansion from a Franco-Cantabrian refuge that recolonized central and northern areas. In contrast, in this refined mtDNA study of the Cantabrian Cornice that contributes 413 partial and 9 complete new mtDNA sequences, including a large Basque sample and a sample of Asturians, no experimental evidence was found to support the human refuge-expansion theory. In fact, all measures of gene diversity point to the Cantabrian Cornice in general and the Basques in particular, as less polymorphic for V, H1 and H3 than other southern regions in Iberia or in Central Europe. Genetic distances show the Cantabrian Cornice is a very heterogeneous region with significant local differences. The analysis of several minor subhaplogroups, based on complete sequences, also suggests different focal expansions over a local and peninsular range that did not affect continental Europe. Furthermore, all detected clinal trends show stronger longitudinal than latitudinal profiles. In Northern Iberia, it seems that the highest diversity values for some haplogroups with Mesolithic coalescence ages are centred on the Mediterranean side, including Catalonia and South-eastern France.
有人提出，在欧洲人中发现的线粒体DNA（mtDNA）单倍群V、H1和H3的分布模式和聚合年龄，是来自法国-坎塔布连避难所的冰后期扩张的结果，该避难所重新殖民了中部和北部地区。相比之下，在这项对坎塔布连海岸进行的精细mtDNA研究中，该研究贡献了413个部分和9个完整的新mtDNA序列，包括大量巴斯克样本和阿斯图里亚斯样本，未发现实验证据支持人类避难所-扩张理论。事实上，所有基因多样性指标都表明，总体而言坎塔布连海岸，尤其是巴斯克地区，在V、H1和H 3单倍群上的多态性低于伊比利亚半岛其他南部地区或中欧地区。遗传距离显示，坎塔布连海岸是一个非常异质的地区，存在显著的局部差异。基于完整序列对几个次要亚单倍群的分析也表明，在局部和半岛范围内存在不同的集中扩张，这些扩张并未影响欧洲大陆。此外，所有检测到的渐变趋势显示，纵向分布比横向分布更为明显。在伊比利亚半岛北部，一些具有中石器时代聚合年龄的单倍群的最高多样性值似乎集中在地中海一侧，包括加泰罗尼亚和法国东南部。
