Gedschold J, Steinbicker V, Szibor R
Z Erkr Atmungsorgane. 1977;148(3):301-6.
It is now obvious that mucoviscidosis possesses an autosomatic recessive heredity. It is not yet clear whether the cause will be found in only one or in several mutant genes. A definite assertion on the genetics of mucoviscidosis can not be done until a practicable test for heterozygotes is available allowing representative investigations. As long as this is not so a repeat risk of at least 25% should be taken as a basis for adequately counselling parents of patients with mucoviscidosis.
现在很明显,囊性纤维化具有常染色体隐性遗传特征。目前尚不清楚病因是仅存在于一个还是几个突变基因中。在有可行的杂合子检测方法并能进行代表性研究之前,无法对囊性纤维化的遗传学做出明确论断。只要情况并非如此,就应以至少25%的再发风险为基础,为囊性纤维化患者的父母提供充分的咨询服务。