Cystic Fibrosis: Frequency of F508 and G542X mutations in Córdoba, Argentina

SALEH M.C.,; BOTELLI A,; BOTELLI M. M.,; REZZÓNICO C.A.,; ARGARAÑA CE

FUNDACION REVISTA MEDICINA

Año: 1996 vol. 56 p. 14 - 14

sing Polymerase Chain Reaction (PCR) based techniques we analyzed thefrequ ency and genotypic distribution of two mutations (deltaF508 and G542X) that produce Cystic Fibrosis. The study was carried out in 19 non-related patients (38 chromosomes) born in the Province of Cordoba. The distribution of genotypes showed the pre sence of 8 homozygote patients deltaF508/LlF508, 2 individuals with non-determined mutations (X/X) and 9 compound heterozygotes (deltaF508/X). The mutation G542X was not found. The mutation LlF508 was detected in 25 chromosomes resulting in an incidence of 66%.