[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia].
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.
Sobczyńska-Tomaszewska
A
A
Zespołu Genetyki Molekularnej Zakładu Genetyki Medycznej Instytutu Matki i Dziecka w Warszawie.
Wolski
J K
JK
Bal
J
J
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D011110:Polymorphism, Genetic; D013733:Testicular Diseases / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014649:Vas Deferens / Q000002:abnormalities*
D004268:DNA-Binding Proteins; D014157:Transcription Factors