Lima M, Mayer F, Coutinho P, Abade A
Department of Biology, University of the Azores, São Miguel, Portugal.
Hum Biol. 1997 Jun;69(3):383-91.
Machado-Joseph disease (MJD) is an autosomal, dominantly inherited neurodegenerative disorder of adult onset. The prevalence of MJD reaches its highest values in the islands of the Azores. A research program was undertaken to study the origin and spread of the mutant gene in the Azorean populations. Here, we present the first results of such a study. The Azorean MJD patients are grouped in 34 families and are distributed on 4 of the 9 Azore islands. Values of prevalence, carrier rate, and number of individuals at risk are reported. The genealogies of the patients were reconstructed to identify the founders. An analysis of the geographic distribution of the birthplaces of the patients compared with the birthplaces of the founders revealed the existence of areas that are clusters for both, thus defining crucial sites for the origin of the disease. Preliminary results on the number of links between the affected families show that 64.7% of them have at least one link with another MJD family. So far, a single source for the introduction of the mutant gene in the Azores has not been identified.
马查多-约瑟夫病（MJD）是一种常染色体显性遗传的成人起病的神经退行性疾病。MJD的患病率在亚速尔群岛达到最高值。开展了一项研究计划，以研究突变基因在亚速尔群岛人群中的起源和传播。在此，我们展示这项研究的首批结果。亚速尔群岛的MJD患者被分为34个家族，分布在9个亚速尔群岛中的4个岛屿上。报告了患病率、携带者率和高危个体数量的值。重建了患者的家谱以确定奠基者。将患者出生地的地理分布与奠基者的出生地进行比较分析，发现存在两者均为聚集区的区域，从而确定了该疾病起源的关键地点。关于受影响家族之间联系数量的初步结果表明，其中64.7%与另一个MJD家族至少有一个联系。到目前为止，尚未确定亚速尔群岛中引入突变基因的单一来源。
