Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina

Autor:	Maria-Carla Saleh, Botelli, A., Melano Botelli, M., Rezzonico, C. A., Argaraña, C. E.
Předmět:	Cystic Fibrosis Genotype Mutation Argentina Cystic Fibrosis Transmembrane Conductance Regulator Humans Polymerase Chain Reaction
Zdroj:	Europe PubMed Central Scopus-Elsevier
Popis:	Using Polymerase Chain Reaction (PCR) based techniques we analyzed the frequency and genotypic distribution of two mutations (delta F508 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 delta F508/delta F508, 2 individuals with non-determined mutations (X/X) and 9 compound heterozygotes (delta F508/X). The mutation G542X was not found. The mutation delta F508 was detected in 25 chromosomes resulting in an incidence of 66%.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::53f8e08a77b5b95551dc7b5699fad8f2 http://europepmc.org/abstract/med/8734924 Zobrazit plný text záznamu