[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.
Wiad Lek
; 53(11-12): 644-51, 2000.
Article
em Pl
| MEDLINE
| ID: mdl-11247407
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oligospermia
/
Polimorfismo Genético
/
Fatores de Transcrição
/
Ducto Deferente
/
Proteínas de Ligação a DNA
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Pl
Revista:
Wiad Lek
Assunto da revista:
MEDICINA
Ano de publicação:
2000
Tipo de documento:
Article