Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/44112
Title: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
Author: Chillón, M.
Casals, T.
Mercier, Bernard
Bassas, Lluís
Lissens, Willy
Silber, Sherman
Romey, Marie Catherine
Ruiz Romero, Javier
Verlingue, Claudine
Claustres, Mireille
Nunes Martínez, Virginia
Férec, Claude
Estivill, Xavier, 1955-
Keywords: Fibrosi quística
Cystic fibrosis
Issue Date: 1-Jun-1995
Publisher: Massachusetts Medical Society
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.
Note: Reproducció del document publicat a: http://dx.doi.org/10.1056/NEJM199506013322204
It is part of: New England Journal of Medicine, 1995, vol. 332, num. 22, p. 1475-1480
Related resource: http://dx.doi.org/10.1056/NEJM199506013322204
URI: http://hdl.handle.net/2445/44112
ISSN: 0028-4793
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)

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