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Previous Volume 332:1475-1480 June 1, 1995 Number 22 Next

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ABSTRACT

Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene.

Methods To investigate CBAVD at the molecular level, we have characterized the mutations in the CFTR gene in 102 patients with this condition. None had clinical manifestations of cystic fibrosis. We also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls.

Results Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T allele. Fifty-four patients had a mutation in one copy of CFTR, and 34 of them (63 percent) had the 5T allele in the other CFTR gene. In 29 patients no CFTR mutations were found, but 7 of them (24 percent) had the 5T allele. In contrast, the frequency of this allele in the general population was about 5 percent.

Conclusions Most patients with CBAVD have mutations in the CFTR gene. The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD. The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men.

Source Information

From the Cancer Research Institute, Molecular Genetics Department, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain (M. Chillón, T.C., V.N., X.E.); the Centre de Biogénétique, University Hospital, Brest, France (B.M., C.V., C.F.); the Andrology Department, Institute of Urology, Nephrology, and Andrology, Fundació Puigvert, Barcelona (L.B., J.R.-R.); the Department of Medical Genetics, Vrije Universiteit, Brussels, Belgium (W.L.); the Department of Urology and Microsurgery, St. Luke's Hospital, St. Louis (S.S.); the Laboratoire de Biochimie Génétique, Institut de Biologie, Montpellier, France (M.-C.R., M. Claustres); and the Genetics Service, Hospital Clinic, Barcelona (X.E.).

Address reprint requests to Dr. Estivill at the Cancer Research Institute, Hospital Duran i Reynals, Avia. Castelldefels Km 2.7, 08907 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.

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