外显率未明的常染色体显性疾病的风险咨询
Risk counselling in autosomal dominant disorders with undetermined penetrance.
作者信息
Pauli R M, Motulsky A G
出版信息
J Med Genet. 1981 Oct;18(5):340-3. doi: 10.1136/jmg.18.5.340.
Abstract
A method is presented for estimating the probability of an affected child being born to a clinically unaffected subject who is at risk for having inherited a rare gene for an autosomal dominant disorder of unknown penetrance. The maximal risk is 8.6% for children of persons at 50% risk for having inherited the mutant gene regardless of the true penetrance of the disorder in question. Applications of this maximal risk figure, which should be of benefit in various counselling situations, are summarised.
摘要
本文提出了一种方法，用于估计临床上未受影响但有遗传罕见基因风险的个体生育患病子女的概率，该罕见基因与一种外显率未知的常染色体显性疾病相关。对于有50%概率遗传了突变基因的个体，无论所讨论疾病的实际外显率如何，其子女的最大风险为8.6%。本文总结了这一最大风险数字在各种咨询情况下的应用，这些应用应会有所帮助。
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