Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt H G
Institut für Humangenetik, Universität, Göttingen, Germany.
Hum Genet. 1993 Mar;91(1):78-9. doi: 10.1007/BF00230228.
Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a "mild" allele and is, in this respect, dominant to the "severe" G551D.
两名患有囊性纤维化的成年姐妹均被证明在CFTR基因第11外显子内携带两种不同的变异，即无义突变G542X和错义突变G551D。两名患者均表现出相对良性的临床病程。在所描述的患者中，G542X作为一个“轻度”等位基因起作用，在这方面，相对于“重度”的G551D呈显性。
