✦ LIBER ✦

Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island

✍ Scribed by T. Bienvenu; S. Bousquet; C. Herbulot; F. Cartault; J.-C. Kaplan; C. Beldjord

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 206 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020411

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Farid F. Chehab

A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI. We have used this strategy to detect the two most frequent mutations in this area: AF508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population. o 1993 WiIey-Liss, Inc.

📜 SIMILAR VOLUMES

Prevalence of cystic fibrosis mutations

Prevalence of cystic fibrosis mutations in the East German population

✍ Charles Coutelle; Roland Brückner; Klaus Grade; Frauke Behrens; Jürgen Gedschold 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected,

Identification of two novel mutations in

Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT

✍ B. Mercier; W. Lissens; M. P. Audrézet; M. Bonduelle; I. Quéré; P. Hilbert; I. L 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB

Complex mutation 4114 ATA → TT in Exon 2

Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR

✍ Thilo Dörk; Rainer Fislage; Burkhard Tümmler 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB

L206W mutation of the cystic fibrosis ge

L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

✍ Rozen, Rima ;Ferreira-Rajabi, Leonor ;Robb, Laura ;Colman, Neil 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

Identification of three novel mutations

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

✍ Thierry Bienvenu; Lilien Chertkoff; Cherif Beldjord; Edgardo Segal; Luis Carnigl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 2 views

Biosensor technology for real-time detec

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR

✍ Giordana Feriotto; Alessandra Ferlini; Anna Ravani; Elisa Calzolari; Carlo Misch 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB

In the present paper, biospecific interaction analysis (BIA) was performed using surface plasmon resonance (SPR) and biosensor technologies to detect the Trp1282Ter mutation (W1282X) of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene. We first immobilized on a SA5 sensor chi