Article
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
Human mutation - 1 Jan 1993
Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan J C, Beldjord C
Abstract excerpt
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: delta F508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This...
Topics
- Adult
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Deoxyribonucleases, Type II Site-Specific
- France
- Heterozygote
- Humans
- Infant, Newborn
- Membrane Proteins