Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis

Lancet. 1989 Dec 23-30;2(8678-8679):1481-3. doi: 10.1016/s0140-6736(89)92931-0.


The amplification refractory mutation system (ARMS) has been applied to prenatal diagnosis and carrier detection of cystic fibrosis. The nucleotide sequence of both alleles of the PstI restriction fragment length polymorphism at the KM19 locus, which displays linkage disequilibrium with cystic fibrosis, has been determined. ARMS enables direct analysis of alleles of this polymorphism in DNA isolated from chorionic villus biopsy or white blood cells.

MeSH terms

  • Alleles
  • Chorionic Villi Sampling
  • Chromosome Mapping
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Evaluation Studies as Topic
  • Female
  • Genetic Carrier Screening / methods*
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium
  • Male
  • Mutation*
  • Nucleic Acid Amplification Techniques*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis / methods*