Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
✍ Scribed by Laura Cremonesi; Maurizio Ferrari; Elena Belloni; Carmelina Magnani; Manuela Seia; Patrizia Ronchetto; Magdy Rady; Maria Pia Russo; Giovanni Romeo; Marcella Devoto
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 521 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by LapChee Tsui
The deltaF508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. The numerous additional mutations detected so far are all relatively rare, and about 30% of CF chromosomes carries unknown mutations in our patients. In order to identify the non-deltaF508 mutations causing CF in our population, we performed GCdamped denaturing gradient gel electrophoresis (DGGE) on 9 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a sample of 86 Italian CF patients carrying unknown mutations on at least one chromosome. Direct sequencing of 1 7 samples showing an altered electrophoretic mobility allowed the identification of four new mutations (541delC, R347H, R352Q, and ESBSX), five mutations already known (G85E, I148T, G178R, 1078delT, and R347f), and one rare variant (1898 + 3A+G). The strategy based on GC-clamped DGGE represents an efficient and rapid approach for mutation detection for those genetic diseases, such as CF, in which a large number of rare molecular defects has been described.