Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
Open Access
- 1 November 2004
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (11) , e118
- https://doi.org/10.1136/jmg.2004.022400
Abstract
Screening for unknown CFTR deletions still remains a challenge and quantitative PCR based methods represent an attractive approach.13 Very recent data have shown that 16% of unidentified CF alleles in a mainly French population consist of large CFTR gene rearrangements.14 Analysis of a larger and heterogeneous population using a semi-quantitative fluorescent PCR assay targeting the 27 CFTR exons, led us to identify undescribed CFTR gene anomalies and a similar but higher proportion of rearrangements. We discuss here the place of our assay in the strategy to diagnose CF and related diseases, and its implications for genetic counselling and care of CF patients and their families.Keywords
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