Jézéquel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall J Y, Le Lannou D, Blayau M
Laboratoire de Génétique Moléculaire, C.H.U. Pontchaillou, Rennes, France.
Clin Chem. 1995 Jun;41(6 Pt 1):833-5.
Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. We discuss the significance of these results.
先天性双侧输精管缺如（CBAVD）在大多数囊性纤维化（CF）男性患者中均可发现，但这种畸形也可在无任何肺部或消化系统特征的情况下出现。我们对25例CBAVD患者群体的CF基因13个外显子进行了分析。在所研究的50条染色体中，共鉴定出24个突变：ΔF508（14例）、R117H（7例）、R1070W（2例）、621 + 1 G→T（1例）和A1067V（1例）。除了ΔF508外，我们实验室研究的CF组（109例患者）中未观察到最常见的突变（R117H、R1070W）。我们讨论了这些结果的意义。
