RRML - Screening for common cystic fibrosis mutations in Romanian patients: analysis of twenty-one cases

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Nr. 17(4)/2009

Screening for common cystic fibrosis mutations in Romanian patients: analysis of twenty-one cases

Lucian Frenţescu, Livia Budişan

Abstract:

Twenty-one patients with a clinical suspicion of cystic fibrosis (CF) were analyzed for common mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The purpose of the study was the identification of mutations in order to confirm the diagnoses. The methods of analysis were: extraction of deoxyribonucleic acid (DNA) from blood, amplification of DNA by Polymerase Chain Reaction (PCR), analysis of PCR products by electrophoresis or by digestion with restriction enzymes followed by electrophoresis; the latter technique is called Restriction Fragment Length Polymorphism Analysis (RFLPA). Seventeen chromosomes with the F508del mutation, 3 with G542X, 1 with W1282X, and 1 with R347P were detected. These results update the profile of mutations present in CF patients from Romania.

Keywords: Cystic fibrosis,mutations,Romania

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Frenţescu L, Budişan L. Screening for common cystic fibrosis mutations in Romanian patients: analysis of twenty-one cases. Rev Romana Med Lab. 2009;17(4):25-9