Journal Article

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

Ana Grangeia, Florence Niel, Filipa Carvalho, Susana Fernandes, Azarnouche Ardalan, Emmanuelle Girodon, Joaquina Silva, Luis Ferrás, Mário Sousa and Alberto Barros

in Human Reproduction

Published on behalf of European Society of Human Reproduction and Embryology

Volume 19, issue 11, pages 2502-2508
Published in print November 2004 | ISSN: 0268-1161
Published online November 2004 | e-ISSN: 1460-2350 | DOI: http://dx.doi.org/10.1093/humrep/deh462
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

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BACKGROUND: Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral (CUAVD) congenital absence of the vas deferens remain to be evaluated. METHODS: Patient screening was carried out by PCR, denaturing gradient gel electrophoresis and DNA sequencing. RESULTS: CFTR mutations were found in 18 out of 31 (58.1%) CBAVD and in three of four (75%) CUAVD patients. The most frequent mutations were F508del and R334W in CBAVD and G542X in CUAVD, with the allelic frequencies of R334W (6.5%) and G542X (25%) being particular to the Portuguese population. The 5T allelic frequency was 3.5% in the fertile male population, 25% in CUAVD and 27.4% in CBAVD patients. The combined frequency of mutations (CFTR+5T) was increased in CBAVD to 22 out of 31 (71%). The frequency of CFTR mutations was compared with that of patients with secondary obstructive azoospermia (OAZ; one out of 16, 6.3%) and non-obstructive azoospermia (NOAZ; two out of 22, 9.1%) with conserved spermatogenesis, which were similar to the general population. However, whereas the 5T allelic frequency in OAZ was similar to that of the general population (3.1%), it was increased in NOAZ cases (14.3%). CONCLUSIONS: Data confirm that CFTR+5T mutations represent the most common genetic abnormality in CAVD, and suggest that cases of NOAZ may be associated with the 5T allele.

Keywords: azoospermia; CAVD; CFTR gene mutations; IVS8 poly(T); male infertility

Journal Article.  5592 words.  Illustrated.

Subjects: Reproductive Medicine

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