PMID: 7544320Sep 1, 1995Paper

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

Human Genetics
E KanavakisC Kattamis

Abstract

To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE). Six mutations accounted for 65.9% of the CF alleles in Greek patients, of which the delta F 508 mutation had a frequency of 52.7%. A further 15 previously described mutations accounted for another 8.3% CF alleles and one previously undescribed mutation (3272-4A-->G) was found in one chromosome. The W1282X mutation was not detected at all. Thus, so far, we have identified 21 mutations in the CFTR gene in Greek CF patients, accounting for 74.5% of the CF alleles.

Citations

May 10, 2002·Clinical Genetics·A VisichL Chertkoff
May 8, 2007·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Katrien StormMarkus M Nöthen
Jan 5, 2011·Genetic Testing and Molecular Biomarkers·Mortaza BonyadiNemat Bilan
Jun 3, 2005·Clinical Dysmorphology·Ozgur CoguluFerda Ozkinay
Mar 1, 1996·Prenatal Diagnosis·T CasalsX Estivill
Apr 8, 2020·Frontiers in Pharmacology·Arnaud BilletFrédéric Becq

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