Article
Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.
Clinical genetics - 1 Jul 2003
Zhao H, Keddache M, Bailey L, Arnold Gl, Grabowski G
Abstract excerpt
A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-2602delTAC) and a new complex mutation (null allele) were identified in Gaucher's disease type 1,...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- Female
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Phenotype