Article
Multiplex PCR assay for screening deletions in the low density lipoprotein receptor gene.
Clinica chimica acta; international journal of clinical chemistry - 5 Jul 2001
Pocsai Z, Paragh G, Adány R
Abstract excerpt
BACKGROUND: In different populations of the world, more than 150 genetic alterations of the LDL receptor gene have been identified; each of which can result in hypercholesterolaemia, but no hot spots in the gene were detected so far. Because of the existence of very variable genetic alterations in different ethnic communities, none of the assays developed for screening mutations/deletions in a population defined...
Topics
- Electrophoresis, Agar Gel
- Exons
- Female
- Gene Deletion
- Genetic Testing
- Humans
- Hungary
- Hyperlipoproteinemia Type II
- Male
- Mutation
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- Receptors, LDL