Friedman J M
Obstet Gynecol. 1981 Jun;57(6):745-9.
Autosomal dominant genetic diseases may result from the transmission of a trait by a carrier parent or from gene mutation in one of the gametes from which the child develops. The mean age of fathers of affected persons has been found to be greater than expected for several autosomal dominant diseases due to new mutations. To assess the clinical importance of this observation, the relative and absolute frequencies of offspring with autosomal dominant diseases due to mutation in the sperm from fathers of various ages have been calculated. The relative frequency of new autosomal dominant mutations in children increases logarithmically with paternal age during the usual years of fatherhood. The absolute frequency of autosomal dominant disease due to new mutations among the offspring of fathers who are 40 years of age or older is estimated to be at least 0.3 to 0.5%. This risk is many times greater than that for children of young fathers and is similar in magnitude to the risk of Down syndrome among the offspring of 35- to 40-year-old mothers. Thus, it is good public health policy to recommend that both men and women complete their family a before age 40, if possible.
常染色体显性遗传病可能源于携带性状的亲代的遗传，或者源于孩子发育所源自的一个配子中的基因突变。由于新的突变，已发现几种常染色体显性疾病患者的父亲平均年龄高于预期。为评估这一观察结果的临床重要性，已计算了不同年龄父亲精子中发生突变导致常染色体显性疾病的后代的相对频率和绝对频率。在正常生育年龄期间，儿童中新发常染色体显性突变的相对频率随父亲年龄呈对数增加。40岁及以上父亲的后代中，因新突变导致的常染色体显性疾病的绝对频率估计至少为0.3%至0.5%。这一风险比年轻父亲的孩子所面临的风险高很多倍，且在数量上与35至40岁母亲的后代患唐氏综合征的风险相似。因此，如果可能的话，建议男性和女性都在40岁之前完成生育，这是一项良好的公共卫生政策。
