常染色体显性疾病中具有降低外显率时的风险估计。
Risk estimation in autosomal dominant disorders with reduced penetrance.
作者信息
Emery A E
出版信息
J Med Genet. 1986 Aug;23(4):316-8. doi: 10.1136/jmg.23.4.316.
The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P less than 1) and f' the relative fitness (0 less than f' less than 1) of affected individuals. In all cases the risks of recurrence will exceed 1 in 20 unless penetrance is high (greater than 0.90) and the relative fitness of affected persons is low (less than 0.6).
在一个家族中出现了一例具有降低外显率的常染色体显性疾病的孤立病例，这在遗传咨询中是一个难题。结果表明，在这种情况下，后续子代复发的风险由下式给出：（公式；见正文）其中P是外显率（0＜P＜1），f'是患病个体的相对适应性（0＜f'＜1）。在所有情况下，复发风险都将超过二十分之一，除非外显率很高（大于0.90）且患病个体的相对适应性很低（小于0.6）。
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