Wilschanski M, Zielenski J, Markiewicz D, Tsui L C, Corey M, Levison H, Durie P R
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
J Pediatr. 1995 Nov;127(5):705-10. doi: 10.1016/s0022-3476(95)70157-5.
To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population.
There was no difference in sweat chloride value value between classes of CFTR mutations that produce no protein (class I), fail to reach the apical membrane because of defective processing (class II), or produce protein that fails to respond to cyclic adenosine monophosphate (class III). Those mutations that produce a cyclic adenosine monophosphate-responsive channel with reduced conductance (class IV) were associated with a significantly lower, intermediate sweat chloride value. However, patients with the mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) had sweat chloride concentrations similar to those in classes I to III.
Studies of differences in chloride conductance between functional classes of CFTR mutations provide insight into phenotypic expression of the disease.
根据囊性纤维化跨膜传导调节因子（CFTR）基因突变类型比较上皮氯化物传导的差异。
我们在一大群囊性纤维化（CF）患者中，使用首次诊断时的汗液氯化物浓度评估CFTR基因突变功能类型与氯化物传导之间的关系。
不产生蛋白质的CFTR基因突变类型（I类）、因加工缺陷而无法到达顶端膜的类型（II类）或产生对环磷酸腺苷无反应的蛋白质的类型（III类）之间，汗液氯化物值没有差异。那些产生环磷酸腺苷反应性通道但传导性降低的突变（IV类）与明显更低的、中等的汗液氯化物值相关。然而，导致正常CFTR合成减少或加工部分缺陷的突变（V类）患者的汗液氯化物浓度与I至III类患者相似。
对CFTR基因突变功能类型之间氯化物传导差异的研究有助于深入了解该疾病的表型表达。
