کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4208397 1609418 2011 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی ریوی و تنفسی
پیش نمایش صفحه اول مقاله
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
چکیده انگلیسی

BackgroundPCR-based diagnostic procedures are not able to characterise 6% of CF alleles. Recently, the application of array-CGH and of CFTR mRNA analysis has allowed the identification of new copy number mutations and splicing defects, that account for 2% and 13% of CF alleles, respectively, in the Italian population.MethodsHere, we report the characterisation of a large duplication in CFTR gene through different methods: MLPA assay, RT-PCR and high-resolution array-CGH.ResultsWe identified a large duplication, involving exons 6b–16, in a patient heterozygous for F508del mutation. This duplication produces an abnormal transcript with an out of frame addition of 2244 nucleotides and leads to the insertion of 8 amino-acid residues in the protein, followed by a stop codon.ConclusionsWe propose a wide methodological approach based on MLPA assay, RT-PCR and high-resolution array-CGH to routinely analyse CF patients uncharacterised for one or both CFTR alleles.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Cystic Fibrosis - Volume 10, Issue 6, December 2011, Pages 412–417
نویسندگان
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