Melendez M G, Williams D M, Baty B, Cartwright G E
South Med J. 1980 May;73(5):607-10. doi: 10.1097/00007611-198005000-00017.
We have identified 11 individuals with Wilson's disease, members of five sibships within a larger family which was traced through seven generations. Of 206 other family members evaluated for Wilson's disease, none had abnormally low serum ceruloplasmin or copper levels and none had Wilson's disease. There were two documented instances of consanguinity, associated with two of the five affected sibships and four of the 11 affected individuals. The patterns of occurrence of Wilson's disease within the family is consistent with the hypothesis that the disorder is transmitted as an autosomal recessive characteristic. It is likely that the apparently high frequency of disease within the family can be explained solely by the founder effect.
我们已确定了11名患有威尔逊氏病的个体，他们来自一个大家庭中的五个同胞组，该大家庭已追溯到七代。在接受威尔逊氏病评估的其他206名家庭成员中，没有一人血清铜蓝蛋白或铜水平异常降低，也没有一人患有威尔逊氏病。有两例近亲结婚的记录，分别与五个患病同胞组中的两个以及11名患病个体中的四名有关。该疾病在家族中的发生模式与该疾病作为常染色体隐性特征遗传的假设一致。很可能家族中明显较高的疾病发生率仅可由奠基者效应来解释。
