Familiární hypercholesterolémie z pohledu DNA analýzy
[Familial hypercholesterolemia from the aspect of DNA analysis]
Language Czech Country Czech Republic Media print
Document type English Abstract, Journal Article, Research Support, Non-U.S. Gov't
PubMed
7901941
- MeSH
- Apolipoprotein B-100 MeSH
- Apolipoproteins B genetics MeSH
- Genetic Markers MeSH
- Hyperlipoproteinemia Type II diagnosis genetics MeSH
- Receptors, LDL genetics MeSH
- Humans MeSH
- Polymerase Chain Reaction MeSH
- Polymorphism, Restriction Fragment Length MeSH
- Polymorphism, Genetic MeSH
- Pedigree MeSH
- Check Tag
- Humans MeSH
- Publication type
- English Abstract MeSH
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Apolipoprotein B-100 MeSH
- Apolipoproteins B MeSH
- Genetic Markers MeSH
- Receptors, LDL MeSH
The authors summarize their first experiences with DNA analysis of defective low density lipoprotein receptor (LDLR) gene of the familial hypercholesterolemia heterozygotes that were selected from the III. Medical Clinic of the 1st Medical Faculty in Prague patients group. First genotype studies of unrelated FH individuals were performed by restriction fragment length polymorphism (RFLP) method. Relative allele frequencies of PvuII (0.69) and StuI (0.91) restriction enzymes agree with the world literature datas, in the ApaLI (0.69) case the higher value may be caused by, for the present, small number of analyzed patients. Possibilities of DNA analysis for pedigree FH diagnosis were demonstrated on the PvuII restriction enzyme case. By the use of polymerase chain reaction (PCR) DNA diagnosis of the familial defective apolipoprotein (Apo) B-100 (exon 26) was performed. 43 unrelated FH individuals were screened and none defective ApoB-100 gene was recorded.
