Back to Search
Start Over
Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.
- Source :
-
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2013 May; Vol. 12 (3), pp. 290-4. Date of Electronic Publication: 2012 Sep 19. - Publication Year :
- 2013
-
Abstract
- Background: Large deletions within CFTR have been estimated to constitute 1-2% pathogenic alleles, but the occurrence could be much higher in classical cystic fibrosis (CF) patients with one mutation detectable by the routine screening/sequencing work-up. Currently, evaluation of major CFTR rearrangements is not included in the mutation analysis for the reproductive partner of a CF patient/carrier.<br />Methods: Exon sequencing and Multiplex Ligation-dependent Amplification (MLPA) analyses were used to make a molecular diagnosis of two unrelated CF patients. Long PCR, restriction mapping, cloning, and hot start sequencing were employed to accurately annotate the rearrangement junctions.<br />Results: Both patients had a heterozygous single amino acid deletion mutation identified by sequencing, and a heterozygous deletion of CFTR exons 17a and 17b detected by MLPA. Molecular characterization of the rearrangement breakpoints indicated that the two patients had an identical complex c.2988+1616&#95;c.3367+356del3796ins62 change, flanked by a pair of perfectly inverted repeats of 32 nucleotides.<br />Conclusions: The c.2988+1616&#95;c.3367+356del3796ins62 complex rearrangement is a recurrent mutation from patients of different ethnic backgrounds. This mutation can be detected through a simple PCR based analysis.<br /> (Copyright © 2012 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1873-5010
- Volume :
- 12
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
- Publication Type :
- Academic Journal
- Accession number :
- 22998936
- Full Text :
- https://doi.org/10.1016/j.jcf.2012.08.017