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Hum. Reprod. Advance Access published online on August 27, 2004
Human Reproduction, doi:10.1093/humrep/deh462
© 2004 by European Society of Human Reproduction and Embryology
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Received December 17, 2003
Revised April 29, 2004
Accepted July 16, 2004

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 1, Florence Niel 2, Filipa Carvalho 1, Susana Fernandes 1, Azarnouche Ardalan 2, Emmanuelle Girodon 2, Joaquina Silva 3, Luis Ferrás 4, Mário Sousa 5*, Alberto Barros 3

1 Department of Genetics, Faculty of Medicine, Porto, Portugal
2 Department of Biochemistry and Genetics, Henri Mondor Hospital, Creteil, France
3 Department of Genetics, Faculty of Medicine, Porto, Portugal; Centre for Reproductive Genetics Alberto Barros, Porto, Portugal
4 Centre for Reproductive Genetics Alberto Barros, Porto, Portugal
5 Department of Genetics, Faculty of Medicine, Porto, Portugal; Centre for Reproductive Genetics Alberto Barros, Porto, Portugal; Laboratory of Cell Biology, ICBAS, University of Porto, Porto, Portugal

* To whom correspondence should be addressed. E-mail: msousa{at}icbas.up.pt.


  Abstract

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.
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