MOLECULAR DIAGNOSTICS FOR CYSTIC-FIBROSIS

Authors
Citation
Kh. Friderici, MOLECULAR DIAGNOSTICS FOR CYSTIC-FIBROSIS, Clinics in laboratory medicine, 17(1), 1997, pp. 59
Citations number
42
Categorie Soggetti
Medical Laboratory Technology
ISSN journal
02722712
Volume
17
Issue
1
Year of publication
1997
Database
ISI
SICI code
0272-2712(1997)17:1<59:MDFC>2.0.ZU;2-N
Abstract
There are many mutations that cause cystic fibrosis, however, only a f ew account for the majority of the cases. This article provides a revi ew of the molecular genetics of cystic fibrosis. A low cost technique for detection of the most common mutations is described. Emphasis is p laced on the appropriate applications and interpretations in the use o f molecular diagnostics for the diagnosis, carrier detection, and trea tment of cystic fibrosis. Emerging treatment possibilities, including gene therapy, are discussed.