Bideau A, Brunet G, Heyer E, Plauchu H, Robert J M
Département de Démographie et Génétique, Institut Européen des Génomutations, Lyon, France.
Ann Hum Biol. 1992 May-Jun;19(3):233-47. doi: 10.1080/03014469200002112.
An important concentration of patients with Rendu-Osler disease occurs in the Valserine valley of the French Jura. A study of marriages shows that, in spite of its somewhat remote location, the valley cannot be considered an isolate, but that, on the contrary, exogamy is widely practised. Only 17.8% of the genes of inhabitants during the present century can be traced to the original population, but persons affected with the disease belong to a subgroup of the population which has lived in the villages for more than 10 generations. All the patients in 85 sibships are related. The smallest number of originator couples who lived at the beginning of the eighteenth century amounts to 16, the unique originator may therefore have lived approximately four generations earlier. However, as other patients who lived at the periphery of the Valserine valley do not appear to be related to any patients living in the valley, and because there has been considerable immigration into the valley, a number of hypotheses to explain the distribution of the disease in the region remain possible.
患有遗传性出血性毛细血管扩张症（Rendu-Osler病）的患者主要集中在法国汝拉山脉的瓦尔塞林山谷。一项关于婚姻的研究表明，尽管该山谷位置较为偏远，但不能将其视为一个孤立的群体，相反，族外通婚现象十分普遍。在本世纪，当地居民只有17.8%的基因可以追溯到原始种群，但患有该病的人属于在这些村庄生活了十多代的一个亚群体。85个同胞关系中的所有患者都有亲属关系。生活在18世纪初的创始夫妇最少有16对，因此唯一的创始者可能生活在大约四代之前。然而，由于生活在瓦尔塞林山谷周边的其他患者似乎与山谷中的任何患者都没有关系，而且由于有大量人口迁入该山谷，所以仍有多种假说来解释该疾病在该地区的分布情况。
