[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation]. / Fibrosis quística en Asturias: elevada frecuencia de la mutación delta F508.
Med Clin (Barc)
; 103(18): 681-3, 1994 Nov 26.
Article
en Es
| MEDLINE
| ID: mdl-7808073
BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the different European populations. METHODS: We have studied the delta F508 and G542X mutations in 20 CF-patients from Asturias. These mutations were analysed through the polymerase chain reaction (PCR). RESULTS: The frequency of the delta F508 mutation in Asturias was 77.5%, higher than those found in most of the other Spanish populations. The frequency found in Asturias is close to the frequency described for the Basque Country population. Patients homozygous for the delta F508 mutation showed clinical symptoms similar to those described in studies on other populations. CONCLUSIONS: The high frequency of two mutations in the CFTR gene in Asturias makes possible the direct diagnostic in most families. The delta F508 mutation is associated to severe clinical manifestations, like early pancreatic insufficiency and Pseudomonas infection.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fibrosis Quística
/
Frecuencia de los Genes
/
Mutación
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
País/Región como asunto:
Europa
Idioma:
Es
Revista:
Med Clin (Barc)
Año:
1994
Tipo del documento:
Article
Pais de publicación:
España