Brehm António, Pereira Luísa, Kivisild Toomas, Amorim António
Human Genetics Laboratory, Centre of Macaronesian Studies, University of Madeira, Campus of Penteada, 9000 Funchal, Portugal.
Hum Genet. 2003 Dec;114(1):77-86. doi: 10.1007/s00439-003-1024-3. Epub 2003 Sep 25.
We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of slaves across the Atlantic. One hundred and fifty-five mtDNAs sampled from the Madeira and 179 from the Açores archipelagos were analysed for the hypervariable segment I (HVS-I), and for haplogroup-diagnostic coding-region RFLPs. The different settlement histories of both groups of islands are well reflected in their present day mtDNA pool. Although both archipelagos show identical diversity values, they are clearly different in their haplogroup content. Madeira displays a stronger sub-Saharan imprint, with haplogroups L1-L3 constituting about 13% of the lineages. Also, the relative frequencies of L sub-clusters in Madeira and mainland Portugal suggests that, at least in part, African presence in Madeira can be attributed to a direct gene flow from West Africa and not via Portugal. A comparison of the genetic composition of these two archipelagos with the Canary Islands, specially taking into account that their European source population was essentially from the Iberian Peninsula, testifies the stronger impact of the North African U6 cluster in the Canaries. This group is present in Madeira at a moderate frequency, but very reduced in the Açores. Nevertheless the recorded introduction of Canary native Guanches, who are characterized by the presence of particular sub-clade U6b1, has left no detectable imprints in the present day population of Madeira.
我们研究了马德拉群岛和亚速尔群岛这两个北大西洋群岛的母系遗传组成，葡萄牙人于15世纪在这两个群岛定居。这两个群岛，尤其是马德拉群岛，都参与了葡萄牙建立的复杂商业网络，其中包括跨大西洋的奴隶贸易。对从马德拉群岛采集的155个线粒体DNA（mtDNA）和从亚速尔群岛采集的179个线粒体DNA进行了高变区I（HVS-I）以及单倍群诊断编码区限制性片段长度多态性（RFLP）分析。两组岛屿不同的定居历史在它们现今的mtDNA库中得到了很好的体现。尽管两个群岛显示出相同的多样性值，但它们的单倍群含量明显不同。马德拉群岛呈现出更强的撒哈拉以南印记，单倍群L1-L3约占谱系的13%。此外，马德拉群岛和葡萄牙大陆L亚簇的相对频率表明，马德拉群岛上非洲人的存在至少部分可归因于来自西非的直接基因流动，而非经由葡萄牙。将这两个群岛的遗传组成与加那利群岛进行比较，特别是考虑到它们的欧洲源人群基本上来自伊比利亚半岛，这证明了北非U6簇在加那利群岛的影响更大。该群体在马德拉群岛以中等频率存在，但在亚速尔群岛中非常稀少。然而，有记录表明加那利群岛的原住民关契斯人具有特定的U6b1亚分支，但其在马德拉群岛现今的人口中并未留下可检测到的印记。
