先天性白内障遗传方式的研究

A Study on Inheritance Mode of Congenital Cataract

本文报道3个先天性白内障大家系,共209人,其中有80人患病,最大家系6代132人中38人患病,绝大多数患者的双亲中有一个为患者,只有一对夫妇均为患者,其子女的患病率明显增高(7.5%)。绝大多数患者的同胞中患病率约50%,且男女患病的机会无明显差异。这3个家系中代代都有患者,明显地呈垂直方式传递。上述特征完全符合常染色体显性遗传的特点。

We investigated three families with congenital cataract. Among the total 209 members of these familles 80 were affected. In the six generations of the largest family 38 of 132 members were affected. In most cases, one of the parents of the patients suffered from this disease. The parents(only one case) were both affected. Prevalence rate of their children was significantly increased(75%). Prevalence rate was about 50% among siblings of most patients and there was no significant difference between the male and the female in prevalence rate. Affected members were found in every generation of the three families. From all these characteristics autosomal dominant inheritance was unambiguously established.