کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1969363 | 1538891 | 2011 | 5 صفحه PDF | دانلود رایگان |

ObjectivesTo characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling.Design and methodsWe performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation.ResultsWe found a novel isolate 538 bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60 bp at the 3′ end of the new coding sequence or, alternatively, a novel splice site at the breakpoints.ConclusionsThe 328del538 is a rare lesion with the characteristics of a complete, but moderate, phenotypic expression. Its finding underlines the importance of improving the detection of mutations using different methods.
Journal: Clinical Biochemistry - Volume 44, Issues 10–11, July 2011, Pages 799–803