Article
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.
Human genetics - 1 Nov 1992
Kawame H, Hasegawa Y, Eto Y, Maekawa K
Abstract excerpt
To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10 and 11 of the glucocerebrosidase gene; these exons were sequentially amplified using the selectively amplified products as templates. We found variant SSCP patterns...
Topics
- Base Sequence
- Cells, Cultured
- DNA Mutational Analysis
- DNA, Single-Stranded
- Exons
- Gaucher Disease
- Glucosylceramidase
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic