Cystic fibrosis: frequency of delta F508 and G542X mutations in Córdoba, Argentina
Medicina (B.Aires)
;
56(1): 14-6, ene.-feb. 1996. mapas, tab
Artículo
en Inglés
| LILACS
| ID: lil-163377
RESUMEN
Using Polymerase Chain Reaction (PCR) based techniques we analyzed the frequency and genotypic distribution of two mutations (deltaF5O8 and G542X) that produce Cystic Fibrosis. The study was carried out in 19 non-related patients (38 chromosomes) born in the Province of Córdoba. The distribution of genotypes showed the presence of 8 homozygote patients deltaF5O8/deltaF5O8, 2 individuals with non-determined mutations (X/X) and 9 compound heterozygotes (deltaF5O8/X). The mutation G542X was not found. The mutation deltaF5O8 was detected in 25 chromosomes resulting in an incidence of 66 por ciento.
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Índice:
LILACS (Américas)
Asunto principal:
Fibrosis Quística
/
Proteínas de la Membrana
/
Mutación
Límite:
Humanos
País/Región como asunto:
America del Sur
/
Argentina
Idioma:
Inglés
Revista:
Medicina (B.Aires)
Asunto de la revista:
Medicina
Año:
1996
Tipo del documento:
Artículo
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