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

Hum Mutat. 1993;2(4):306-8. doi: 10.1002/humu.1380020411.

Abstract

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 diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population.

MeSH terms

  • Adult
  • Base Sequence
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Primers
  • Deoxyribonucleases, Type II Site-Specific
  • France / epidemiology
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction / methods*

Substances

  • CFTR protein, human
  • DNA Primers
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • endodeoxyribonuclease MseI
  • Deoxyribonucleases, Type II Site-Specific