Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.
Ann Hum Biol
; 39(1): 76-9, 2012 Jan.
Article
en En
| MEDLINE
| ID: mdl-22148899
ABSTRACT
BACKGROUND:
Congenital bilateral absence of vas deferens (CBAVD) is responsible for 2-6% of male infertility. It occurs in 95% of men with cystic fibrosis. This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens. PATIENTS ANDMETHODS:
The study involved 20 male patients aged between 28-40 years, referred with suspected cystic fibrosis and in whom bilateral absence of vas deferens was confirmed by cyto-biochemical analyses and urogenital ultrasound. Molecular study of the CFTR gene was based on several techniques DHPLC, DGGE and direct sequencing.RESULTS:
Thirteen patients had CFTR mutations F508del, G542X, W1282X, E1104X, 711+1G â T, V201M (TG) m and IVS8-5T. These mutations were associated with polymorphisms M470V and D1270N. Seven cases presented only polymorphisms.CONCLUSION:
The different mutations found in this study were associated with polymorphisms which decrease the severity of the disease and delay its onset. Thus, bilateral agenesis of the vas deferens is classed as a form of cystic fibrosis with only genital expression.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Enfermedades Urogenitales Masculinas
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Ann Hum Biol
Año:
2012
Tipo del documento:
Article
País de afiliación:
Túnez