A 10-year large-scale cystic fibrosis carrier screening in the Italian population Luigi Picci, Marilena Cameran, Oriana Marangon, Diana Marzenta, Stefano.

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Presentation transcript:

A 10-year large-scale cystic fibrosis carrier screening in the Italian population Luigi Picci, Marilena Cameran, Oriana Marangon, Diana Marzenta, Stefano Ferrari, Anna Chiara Frigo, Maurizio Scarpa Journal of Cystic Fibrosis Volume 9, Issue 1, Pages 29-35 (January 2010) DOI: 10.1016/j.jcf.2009.10.003 Copyright © 2009 European Cystic Fibrosis Society Terms and Conditions

Fig. 1 Algorithm for CF carrier screening test. The strategy used in our study involves assays for multiple CFTR mutation detection (47 mutation based-RDB assay) and a “failsafe” protocol to discriminate potential false negatives. In couples with one of the two partners carrying a CFTR mutation, the “negative” subject is further analysed through DGGE and/or dHPLC. Journal of Cystic Fibrosis 2010 9, 29-35DOI: (10.1016/j.jcf.2009.10.003) Copyright © 2009 European Cystic Fibrosis Society Terms and Conditions