Audrézet M P, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C
Centre de Biogénétique, Brest, France.
Hum Mol Genet. 1993 Jan;2(1):51-4. doi: 10.1093/hmg/2.1.51.
Over 200 mutations, besides the deletion delta F508, have been identified in the CFTR gene and are known to cause CF. In order to characterize the molecular defects of non delta F508 CF chromosomes of various French origin, we have combined the techniques of denaturing gradient gel electrophoresis (DGGE) and direct sequencing to screen for mutations in the whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries. This approach enabled us to identify 12 novel mutations which are described here. We have systematically tested a large number of other nucleotide changes distributed in the 27 exons, each of them was clearly detected. These data support the notion that the DGGE conditions we have defined for screening coding sequence of the CFTR gene allows the identification of most of, if not all, the CFTR gene mutations.
除了ΔF508缺失外，在囊性纤维化跨膜传导调节因子（CFTR）基因中已鉴定出200多种突变，并且已知这些突变会导致囊性纤维化（CF）。为了表征源自法国各地的非ΔF508 CF染色体的分子缺陷，我们结合了变性梯度凝胶电泳（DGGE）技术和直接测序技术，以筛选CFTR基因整个编码序列中的突变，该编码序列对应于27个外显子及其外显子 - 内含子边界。这种方法使我们能够鉴定出12种新突变，在此进行描述。我们系统地测试了分布在27个外显子中的大量其他核苷酸变化，每一个都能被清晰检测到。这些数据支持这样一种观点，即我们为筛选CFTR基因编码序列所定义的DGGE条件能够鉴定出大多数（如果不是全部）CFTR基因突变。
