Danes B S, Hodson M E, Batten J
Clin Genet. 1977 Feb;11(2):83-90. doi: 10.1111/j.1399-0004.1977.tb01284.x.
Although the majority of patients with cystic fibrosis (CF) show a typical clinical course, a minority with the same clinical phenotype at the time of initial diagnosis have an atypical (mild) course. Skin fibroblast cultures were established from 49 members of the family of one such atypical CF adult patient, previously identified (Danes et al. 1976) as CF Class II (ametachromatic and no metabolic cooperation with CF Class I fibroblasts), the offspring of Class I (metachromatic, metabolic cooperation with normal fibroblasts)/Class II mating. The culture phenotype for Class I was traced on the maternal side and for Class II on the paternal side through consecutive generations and the culture phenotype of each class segregated. This family study added experimental evidence to support the hypothesis that the atypical (mild) clinical features and course of this adult CF patient were due to two different CF genes combining to produce a genetic compound expressing a mild form of CF.
尽管大多数囊性纤维化（CF）患者表现出典型的临床病程，但少数在初始诊断时具有相同临床表型的患者却有非典型（轻度）病程。从一名此类非典型CF成年患者的家族中的49名成员建立了皮肤成纤维细胞培养物，该患者先前被鉴定（丹麦人等，1976年）为CF II类（异染性且与CF I类成纤维细胞无代谢合作），是I类（异染性，与正常成纤维细胞有代谢合作）/II类交配的后代。通过连续几代追踪，I类的培养表型来自母系，II类的培养表型来自父系，并且每一类的培养表型都发生了分离。这项家族研究增加了实验证据，以支持这样的假设，即该成年CF患者的非典型（轻度）临床特征和病程是由于两个不同的CF基因结合产生了一种表达轻度CF形式的遗传复合物。
