IDENTIFICATION OF 6 MUTATIONS (R31L, 441DELA, 681DELC, 1461INS4, W1089R, E1104X) IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR(CFTR) GENE

Authors
ZIELENSKI J MARKIEWICZ D CHEN HS SCHAPPERT K SELLER A DURIE P COREY M TSUI LC
Citation
J. Zielenski et al., IDENTIFICATION OF 6 MUTATIONS (R31L, 441DELA, 681DELC, 1461INS4, W1089R, E1104X) IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR(CFTR) GENE, Human mutation, 5(1), 1995, pp. 43-47
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
5
Issue
1
Year of publication
1995
Pages
43 - 47
Database
ISI
SICI code
1059-7794(1995)5:1<43:IO6M(4>2.0.ZU;2-7
Abstract
Six new mutations have been identified in the CFTR gene. These mutatio ns, representing three different categories-missense (R31L, W1098R), n onsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)-are loca ted in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cys tic fibrosis (CF) in patients. All these mutations are probably rare i n the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequ ence variation (3499 + 45T-->C) in intron 17b. (C) 1995 Wiley-Liss, In c.