• PMID: 11247407
• Gene Name: CFTR
• Condition: Congenital bilateral absence of the vas deferens (CBAVD), Obstructive azoospermia
• Association: 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 ge
• Population size: 35
• Population details: 35 congenital bilateral absence of the vas deferens (CBAVD)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia]

Sobczy?ska-Tomaszewska A, Wolski JK, Bal J.

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. FAU - Sobczyńska-Tomaszewska, A AU - Sobczyńska-Tomaszewska A AD - Zespołu Genetyki Molekularnej Zakładu Genetyki Medycznej Instytutu Matki i Dziecka w Warszawie. FAU - Wolski, J K AU - Wolski JK