Article
A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene.
Human heredity - 1 Jan 1992
Cavanaugh J A, Easteal S, Simons L, Serjeantson S
Abstract excerpt
The Lebanese allele in the low-density lipoprotein receptor gene is one of the alleles which results in the disease familial hypercholesterolemia. We describe a rapid method for detection of the Lebanese allele, using the polymerase chain reaction to amplify part of exon 13, intron 14 and all of exon 14. The amplified DNA is then digested with HinfI which distinguishes between the normal and Lebanese alleles. A...
Topics
- Alleles
- Australia
- Base Sequence
- Electrophoresis, Polyacrylamide Gel
- Humans
- Hyperlipoproteinemia Type II
- Lebanon
- Molecular Sequence Data
- Polymerase Chain Reaction
- Prevalence
- Receptors, LDL