Article
Diagnosis of familial hypercholesterolemia using DNA haplotype analysis in three large families with two hyperlipidemic parents.
Annals of nutrition & metabolism - 1 Jan 1992
Schuster H, Keller C, Wolfram G, Zöllner N
Abstract excerpt
Since the cloning of the human LDL receptor (LDLR) gene, familial hypercholesterolemia (FH) can be diagnosed by recombinant DNA technology either using restriction enzyme mapping to detect major rearrangements of the gene or using restriction fragment length polymorphisms (RFLPs) and linkage anal...
Topics
- Adult
- Apolipoprotein B-100
- Apolipoproteins B
- DNA
- Diagnosis, Differential
- Female
- Genes
- Genotype
- Haplotypes
- Humans
- Hyperlipidemia, Familial Combined
- Hyperlipoproteinemia Type II
- Hyperlipoproteinemia Type IV
- Lipids
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Receptors, LDL