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

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Grangeia, A (Author) FMUP; Niel, F (Author) Other; carvalho, f (Author) FMUP; Fernandes, S (Author) Other; Ardalan, A (Author) Other; Girodon, E (Author) Other; Silva, J (Author) Other; Ferras, L (Author) Other; sousa, m (Author) ICBAS; barros, a (Author) FMUP

Journal

Title: Human Reproduction

Vol. 19

Pages: 2502-2508

ISSN: 0268-1161

Publisher: Oxford University Press

Indexing

ISI Web of Knowledge - 40 Citations

Scopus - 43 Citations

Other information

Authenticus ID: P-000-7VY

DOI: 10.1093/humrep/deh462

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7