在意大利对囊性纤维化跨膜传导调节因子（CFTR）基因五个外显子中的非ΔF508突变进行筛查。
Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.
作者信息
Devoto M, Ronchetto P, Fanen P, Orriols J J, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L
机构信息
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genoa, Italy.
出版信息
Am J Hum Genet. 1991 Jun;48(6):1127-32.
Abstract
Analysis of exons 10, 11, 14a, 15, and 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing-gradient-gel electrophoresis (DGGE) allowed the identification of mutations causing cystic fibrosis (CF) in 25 of 109 non-delta F508 chromosomes, as well as identification of a number of polymorphisms and sequence variations. Direct sequencing of the PCR fragments which showed an altered electrophoretic behavior not attributable to known mutations has led to the characterization of four new mutations, two in exon 11, and one each in exons 15 and 20. Screening for the different mutations thus far identified in our patients by the DGGE analysis and other independent methods should allow detection of about 70% of the molecular defects causing CF in Italy. Mutations located in exons 11 and 20 account for at least 30% of the non-delta F508 mutations present in Italian CF patients.
摘要
通过变性梯度凝胶电泳（DGGE）对囊性纤维化跨膜传导调节因子（CFTR）基因的第10、11、14a、15和20外显子进行分析，在109条非ΔF508染色体中的25条上鉴定出了导致囊性纤维化（CF）的突变，同时还鉴定出了一些多态性和序列变异。对显示出电泳行为改变且并非由已知突变引起的PCR片段进行直接测序，已确定了四个新突变，其中两个在第11外显子，第15和20外显子各有一个。通过DGGE分析和其他独立方法对目前在我们患者中鉴定出的不同突变进行筛查，应该能够检测出意大利约70%的导致CF的分子缺陷。位于第11和20外显子的突变至少占意大利CF患者中存在的非ΔF508突变的30%。
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