Article
Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis.
Lancet (London, England) - 1 Jan 2000
Newton C R, Heptinstall L E, Summers C, Super M, Schwarz M, Anwar R, Graham A, Smith J C, Markham A F
Abstract excerpt
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 fi...
Topics
- Alleles
- Chorionic Villi Sampling
- Chromosome Mapping
- Cystic Fibrosis
- Evaluation Studies as Topic
- Female
- Genetic Carrier Screening
- Genotype
- Haplotypes
- Humans
- Linkage Disequilibrium
- Male
- Mutation
- Nucleic Acid Amplification Techniques
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy