Claustres M, Laussel M, Desgeorges M, Giansily M, Culard J F, Razakatsara G, Demaille J
Laboratoire de Biochimie Génétique, CNRS UPR-9008, Montpellier, France.
Hum Mol Genet. 1993 Aug;2(8):1209-13. doi: 10.1093/hmg/2.8.1209.
In order to characterize the non-delta F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes in Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by the single strand conformation polymorphism (SSCP) technique followed by direct sequencing of the mutant DNAs. We identified 13 novel mutations (9 reported in this paper) and 4 novel rare nucleotide sequence variations. Forty different mutations including delta F508, located in 15 exons, account for only 91.2% of mutants in a population originating from Southern France, in contrast with a recent report on the Celtic population of Brittany demonstrating that 90% of mutations can be detected with only three mutations. We present a very large spectrum of different CF mutations identified in a small geographical area.
为了在137例患者样本中鉴定出占法国南部囊性纤维化（CF）染色体36%的非ΔF508突变，我们采用单链构象多态性（SSCP）技术，随后对突变DNA进行直接测序，系统地筛查了囊性纤维化跨膜传导调节因子（CFTR）基因的整个编码区及相邻序列。我们鉴定出13个新突变（本文报道9个）和4个新的罕见核苷酸序列变异。包括ΔF508在内，位于15个外显子中的40种不同突变仅占来自法国南部人群中突变体的91.2%，这与最近关于布列塔尼凯尔特人群体的报告形成对比，该报告表明仅三种突变就能检测出90%的突变。我们展示了在一个小地理区域内鉴定出的非常广泛的不同CF突变谱。
