Blumen S C, Nisipeanu P, Sadeh M, Asherov A, Blumen N, Wirguin Y, Khilkevich O, Carasso R L, Korczyn A D
Department of Neurology, Hillel Yafe Medical Center, Hadera, Israel.
Neuromuscul Disord. 1997 Oct;7 Suppl 1:S38-40. doi: 10.1016/s0960-8966(97)00080-1.
Oculopharyngeal muscular dystrophy (OPMD) is considered frequent among French Canadians. Our previous observations suggested it is common also among the Jews originating from Bukhara in Uzbekistan, many of whom are now living in Israel. One hundred and seventeen OPMD patients were identified in a population of 70,000 people of Bukharian descent, resulting in a calculated minimal prevalence of 1:600. In all but three families age dependent autosomal dominant inheritance was documented. There is some evidence for genetic anticipation. Three young, severely ill, patients from two different families may be homozygotes, their parents being both affected. Bukhara Jews present the second largest known cluster and the prevalence is the highest in the world. The existence of very large families, intermarriage among carriers and probably homozygote offspring may be useful for genetic studies. A 'founder effect' may explain the high prevalence of OPMD in this population.
眼咽型肌营养不良症（OPMD）在法裔加拿大人中较为常见。我们之前的观察表明，在来自乌兹别克斯坦布哈拉的犹太人中也很常见，他们中的许多人现在生活在以色列。在7万布哈拉后裔人群中，共识别出117例OPMD患者，由此计算出的最低患病率为1:600。除三个家系外，均记录到年龄依赖性常染色体显性遗传。有一些遗传早现的证据。来自两个不同家系的三名年轻重症患者可能是纯合子，他们的父母均患病。布哈拉犹太人是已知的第二大患病群体，其患病率为世界最高。存在非常大的家系、携带者之间的通婚以及可能的纯合子后代，这对遗传学研究可能有用。“奠基者效应”可能解释了该人群中OPMD的高患病率。
