年长父亲发生显性突变的风险：来自成骨不全症的证据。
Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta.
作者信息
Carothers A D, McAllion S J, Paterson C R
出版信息
J Med Genet. 1986 Jun;23(3):227-30. doi: 10.1136/jmg.23.3.227.
Abstract
The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paternal age. No significant increase in maternal or paternal age was found in cases having OI either of a dominant type with an affected parent or of a type (Sillence type III) usually regarded as recessive. We conclude that, as in certain other dominant conditions, the risk of mutant OI increases with paternal age. However, the rate of increase of risk with paternal age appears to be considerably lower than, for example, in achondroplasia. The overall risk of fresh dominant mutation in older fathers may therefore be lower than has previously been suggested.
摘要
80例疑似显性成骨不全（OI）突变病例的父亲出生时的平均年龄显著高于人群对照组，在调整母亲年龄后依然如此。母亲的平均年龄也有所增加（不显著），在调整父亲年龄后这一增加消失。在有显性OI且父母一方患病的病例或通常被认为是隐性的类型（Sillence III型）的OI病例中，未发现母亲或父亲年龄有显著增加。我们得出结论，与某些其他显性疾病一样，突变型OI的风险随父亲年龄增加而增加。然而，风险随父亲年龄增加的速率似乎远低于，例如软骨发育不全。因此，年长父亲产生新的显性突变的总体风险可能低于此前的推测。
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