Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype |
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Authors: | Viviane Dumur Radj Gervais Jean-Marc Rigot Elisabeth Delomel-Vinner Bertrand Decaestecker Jean-Jacques Lafitte Philippe Roussel |
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Institution: | (1) Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Calmette, Lille, France;(2) Département de Pneumologie, Hôpital Calmette, Lille, France;(3) Service d'Urologie, Centre Hospitalier et Universitaire, Lille, France;(4) INSERM No. 377 place de Verdun, F-59045 Lille, France |
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Abstract: | To assess better the link between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis (CF), we compared sweat chloride values, analysis of the CFTR intron 8 poly(T) tract length and analysis of 10 exons in a population of 38 patients with CBAVD. The data indicate that this population can be divided into three groups of patients. In the first group of 15 patients with abnormal sweat chloride (> 60 mmol/l), the frequency of CF mutations is high. In the second group of 18 patients with equivocal sweat chloride (between 40 and 60 mmol/l), the frequency of the 5T variant is high; 6 patients have a 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 F508 mutation in another patient. A third group of 5 patients is probably not related to CF: these patients have other congenital abnormalities of the urogenital tract, low chloride values (< 40 mmol/l) and apparently no abnormality of the CF gene. |
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