期刊
JOURNAL OF CYSTIC FIBROSIS
卷 10, 期 6, 页码 412-417出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jcf.2011.06.007
关键词
CFTR; mRNA; Duplication; Array-CGH
资金
- Italian Ministry of University and Research (MIUR) [2005068307]
- Regione Lombardia [12298, 19081]
- Italian Cystic Fibrosis Research Foundation
Background: PCR-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. Methods: Here, we report the characterisation of a large duplication in CFTR gene through different methods: MLPA assay, RT-PCR and high-resolution array-CGH. Results: We 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. Conclusions: We 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. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
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