Plouvier E, Cougoureux E, Sardet A, Tournier G, Aymard P, Feldmann D
Laboratoire de Biochimie, Hôpital Armand Trousseau, Paris, France.
Ann Genet. 1997;40(3):185-8.
More than 600 mutations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and are known to cause cystic fibrosis (CF). This large number of mutations makes the search of the molecular defects in CF patients difficult. We have used the techniques of denaturing gradient gel electrophoresis (DGGE) and direct DNA sequencing to detect the mutations in 334 CF chromosomes mostly of French origin. The whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries was studied. 45 different mutations were identified. This method allowed us to detect the molecular defect in 90.5% of the mutant alleles and to report a novel mutation D979V.
在囊性纤维化跨膜传导调节因子（CFTR）基因中已鉴定出600多种突变，已知这些突变会导致囊性纤维化（CF）。如此大量的突变使得寻找CF患者的分子缺陷变得困难。我们使用变性梯度凝胶电泳（DGGE）和直接DNA测序技术检测了334条主要源自法国的CF染色体中的突变。研究了CFTR基因对应于27个外显子及其外显子-内含子边界的整个编码序列。鉴定出45种不同的突变。该方法使我们能够在90.5%的突变等位基因中检测到分子缺陷，并报告了一种新的突变D979V。
