CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS (CBAVD) AND CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR (CFTR) - CORRELATION BETWEEN GENOTYPE AND PHENOTYPE

To assess better the link between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis (CF), we compared sweat chlor ide values, analysis of the CFTR intron 8 poly(T) tract length and ana lysis of 10 exons in a population of 38 patients with CBAVD. The data indicate that this population can be divided into three groups of pati ents. In the first group of 15 patients with abnormal sweat chloride ( > 60 mmol/l), the frequency of CF mutations is high. In the second gro up of 18 patients with equivocal sweat chloride (between 40 and 60 mmo l/l), the frequency of the 5T variant is high; 6 patients have a Delta F508 mutation and a 5T variant and 1 patient is homozygous for the 5T variant; a 5T variant has been detected in 3 other patients, and a De lta F508 mutation in another patient, A third group of 5 patients is p robably not related to CF: these patients have other congenital abnorm alities of the urogenital tract, low chloride values (< 40 mmol/l) and apparently no abnormality of the CF gene.