[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia]. / Identyfikacja mutacji i zmian polimorficznych w genie CFTR u pacjentów z azoospermia obstrukcyjna.

ABSTRACT

Obstructive azoospermia is one of the symptoms of congenital bilateral absence of the vas deferens (CBAVD)--disease which is suggested as primarily genital form of cystic fibrosis. CBAVD is a result of mutations and polymorphisms in CFTR gene. We studied 9 the most common mutations and identified 3 mutations (delta F508, R117H, G542X). The study showed that 37.1% of CBAVD patients (13 out of 35 examined patients) carried mutations in a single or both copies of the gene. We also found the increased frequency of IVS8-5T allele in this group. No increased frequency of mutations in CFTR gene was found in group of men with incorrect spermatogenesis.