Article
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
American journal of human genetics - 1 Mar 1990
Firon N, Eyal N, Kolodny E H, Horowitz M
Abstract excerpt
Genomic DNA prepared from human cells in culture was amplified by the polymerase chain-reaction technique using two primers specific for the active human glucocerebrosidase gene. The 1,036-bp amplified fragment derived from the active gene was tested for the existence of three mutations--designat...
Topics
- Base Sequence
- DNA-Directed DNA Polymerase
- Gaucher Disease
- Gene Amplification
- Genotype
- Glucosidases
- Glucosylceramidase
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Taq Polymerase