کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1969363 1538891 2011 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Biochemistry - Volume 44, Issues 10–11, July 2011, Pages 799–803
نویسندگان
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