Screening for cystic fibrosis gene mutations by multiplex DNA amplification

Hum Genet. 1992 Mar;88(5):552-6. doi: 10.1007/BF00219343.

Abstract

We have developed a simple rapid DNA screening test that allows us simultaneously to analyze seven CF mutations (delta F508, R347P, S549N, G551D, R553X, R334W, 444delA) that together account for about 60% of all CF mutations in the Italian population. It consists of three steps: multiplex polymerase chain reaction (PCR) amplification of exons 4, 7, 10 and 11; restriction endonuclease digestion of the PCR products; and vertical polyacrylamide gel electrophoresis analysis. We have used our multiplex assay for analyzing 15 CF chromosomes (non delta F508) and have found 3 cases of the R553X mutation; the latter have been confirmed by amplification and digestion of exon 11.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • DNA / genetics
  • DNA / isolation & purification
  • Electrophoresis, Polyacrylamide Gel
  • Exons
  • Genetic Carrier Screening
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • Reference Values
  • Restriction Mapping

Substances

  • Oligodeoxyribonucleotides
  • DNA