Costes B, Fanen P, Goossens M, Ghanem N
Laboratoire de Génétique Moléculaire, INSERM U91, CHU Henri Mondor, Créteil, France.
Hum Mutat. 1993;2(3):185-91. doi: 10.1002/humu.1380020306.
We describe the use of DGGE multiplex systems for rapid analysis of 15 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, in which about half of the known CF molecular defects are clustered. We have previously determined the spectrum of mutations affecting the CFTR gene in the French population using a strategy based on denaturing gradient gel electrophoresis (DGGE) of amplified gene segments. Analysis of CF patients' DNA with five DGGE multiplex systems permitted us to characterize nearly 35% of non-delta F508 CF alleles and increased the CF allele detection rate to almost 82% in this population. This simple and rapid multiplex analysis strategy, which allows a significant proportion of the most frequent CF mutations in Caucasians to be detected, will be helpful in the implementation of genetic screening programs.
我们描述了使用变性梯度凝胶电泳（DGGE）多重系统对囊性纤维化跨膜传导调节因子（CFTR）基因的15个外显子进行快速分析，已知的CF分子缺陷约有一半聚集在这些外显子中。我们之前采用基于扩增基因片段变性梯度凝胶电泳（DGGE）的策略，确定了法国人群中影响CFTR基因的突变谱。使用五个DGGE多重系统对CF患者的DNA进行分析，使我们能够鉴定出近35%的非ΔF508 CF等位基因，并将该人群中CF等位基因的检测率提高到近82%。这种简单快速的多重分析策略能够检测出白种人中相当比例的最常见CF突变，将有助于实施基因筛查计划。
