Screening for common cystic fibrosis mutations in Romanian patients: analysis of twenty-one cases Screening pentru muta Ńiile comune în fibroza chistic ă la pacien Ńii din Romania: analiza a 21 de cazuri

Twenty-one patients with a clinical suspicion of cy stic fibrosis (CF) were analyzed for common mutations in the Cystic Fibrosis Transmembrane Conducta nce Regulator (CFTR) gene. The purpose of the study was the identification of mutations in order to confirm the diagnoses. The methods of analysis were: extra ction of deoxyribonucleic acid (DNA) from blood, amplificati on of DNA by Polymerase Chain Reaction (PCR), analy sis of PCR products by electrophoresis or by digestion with restriction enzymes followed by electrophoresi s; the latter technique is called Restriction Fragment Length Polymorphism Analysis (RFLPA). Seventeen chromosom es with the F508del mutation, 3 with G542X, 1 with W12 82X, and 1 with R347P were detected. These results update the profile of mutations present in CF patients fro m Romania.