𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

✍ Scribed by Bruno Costes; Pascale Fanen; Michel Goossens; Nada Ghanem

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
579 KB
Volume
2
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

We describe the use of DGGE multiplex systems for rapid analysis of 15 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, in which about half of the known CF molecular defects are clustered. We have previously determined the spectrum of mutations affecting the CFTR gene in the French population using a strategy based on denaturing gradient gel electrophoresis (DGGE) of amplified gene segments. Analysis of CF patients' DNA with five DGGE multiplex systems permitted us to characterize nearly 35% of non-AF508 CF alleles and increased the CF allele detection rate to almost 82% in this population. This simple and rapid multiplex analysis strategy, which allows a significant proportion of the most frequent CF mutations in Caucasians to be detected, will be helpful in the implementation of genetic screening programs.

πŸ“œ SIMILAR VOLUMES

A Single-tube multiplex system for the s
A Single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations
✍ R. A. Axton; D. J. H. Brock πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 379 KB

We describe a nonisotopic single-tube polymerase chain reaction (PCR) multiplex system that detects 10 of the more common cystic fibrosis (CF) mutations (AF508, AI507, V520F, G551D, G542X, R553X, R117H, 621 + l h T , N1303K, A455E). The use of this method detects approximately 90% of the CF alleles

Rapid detection of single nucleotide del
Rapid detection of single nucleotide deletions: application to the Ξ² 6 (-A) mutation of the Ξ²-globin gene and to cystic fibrosis
✍ Marie-Catherine Romey; Patricia Aguilar-Martinez; Jacques Demaille; Mireille Cla πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 247 KB

The formation of heteroduplexes from the amplified products of homologous alleles has been shown to be useful in the identification of heterozygotes carrying deletion or insertion mutations. Here, we describe an improved procedure that allows the detection of single base pair (bp) deletions on nonde

Simultaneous detection and differentiati
Simultaneous detection and differentiation of human polyomaviruses JC and BK by a rapid and sensitive PCR-ELAHA assay and a survey of the JCV subtypes within an Australian population
✍ David M. Whiley; Katherine E. Arden; Ian M. Mackay; Melanie W. Syrmis; Theo P. S πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 80 KB

## Abstract Human polyomaviruses JCV and BKV can cause several clinical manifestations in immunocompromised hosts, including progressive multifocal leukoencephalopathy (PML) and haemorrhagic cystitis. Molecular detection by polymerase chain reaction (PCR) is recognised as a sensitive and specific m