Title: Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot
Authors: Cuppens, Harry ×
Buyse, Inge
Baens, Thijs
Marynen, Peter
Cassiman, Jean-Jacques #
Issue Date: Feb-1992
Series Title: Molecular and cellular probes. vol:6 issue:1 pages:33-9
Abstract: An assay is described in which 11 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can be screened simultaneously. Six different exons of the CFTR gene are amplified in a single multiplex amplification. Biotinylated dUTP is incorporated into the different fragments during the amplification process. A sample of this mixture is then hybridized to 21 different poly-dT tailed oligonucleotide probes which are bound to a nylon membrane. In order to screen the different mutations in a single step hybridization, the length of the different oligonucleotides and the amount used in the assay were optimized. The detection is performed by binding avidin-alkaline phosphatase to the biotin, followed by a chemiluminescent reaction. By means of this fast and sensitive assay, about 85% of all the cystic fibrosis mutations in the Belgian population can be detected.
ISSN: 0890-8508
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Human Genome Laboratory
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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