title: Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.
abstract: Two deletions of the low density lipoprotein (LDL) receptor gene account for about 90% of the mutations that cause familial hypercholesterolemia (FH) in eastern Finland. The FH-Helsinki mutation deletes exons 16, 17 and a portion of exon 18, while the FH-North Karelia allele is characterized by a deletion of seven nucleotides from exon 6 of the LDL receptor gene. We developed a DNA assay based on the use of polymerase chain reaction (PCR) which simultaneously detects both of these mutations. We have screened 90 young (< 45 years) eastern Finns with symptomatic coronary heart disease (CHD) for the presence of these FH genes. One or the other of the mutations was present in 4 out of 55 survivors of acute myocardial infarction (AMI) and 4 out of 35 patients with angina pectoris (AP), but in none of 50 healthy controls of similar age. These data show a relatively high prevalence of confirmed FH in young CHD patients (AMI and MI combined: 8/90, or 9%), and also demonstrate the feasibility of PCR techniques in diagnosis of FH among populations with enrichment of specific types of LDL receptor gene mutations.
authors.affiliation: Institute of Biotechnology, University of Helsinki, Finland.
authors.forename: U M
authors.initials: UM
authors.lastname: Koivisto
authors.forename: L
authors.initials: L
authors.lastname: Hämäläinen
authors.forename: M R
authors.initials: MR
authors.lastname: Taskinen
authors.forename: K
authors.initials: K
authors.lastname: Kettunen
authors.forename: K
authors.initials: K
authors.lastname: Kontula
mesh_terms: D000328:Adult; D001483:Base Sequence; D008078:Cholesterol, LDL / Q000097:blood; D003327:Coronary Disease / Q000150:complications* / Q000235:genetics; D004247:DNA / Q000032:analysis; D005091:Exons; D005260:Female; D005387:Finland; D017353:Gene Deletion; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009203:Myocardial Infarction / Q000150:complications / Q000235:genetics; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D008078:Cholesterol, LDL; D011973:Receptors, LDL; D004247:DNA