title: Detection of the apolipoprotein B-100 arg(3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis.
abstract: Familial defective apolipoprotein B-100 (FDB) is caused by a point mutation in exon 26 of the apolipoprotein B gene leading to a decreased binding to the LDL-receptor. Patients with FDB have hypercholesterolemia and atherosclerotic disease. Since other mutations of apoB-100 could also cause binding abnormalities we established a temperature-gradient gel electrophoresis (TGGE) method and started to screen hypercholesterolemic patients for the presence of point mutations in this region. 4 of 43 patients were positive according to TGGE and subsequent sequencing showed the familiar guanine to adenine transition in codon 3500 in all cases.
authors.affiliation: Abt. IV, Endokrinologie, Universität Tübingen.
authors.forename: M
authors.initials: M
authors.lastname: Koch
authors.forename: M
authors.initials: M
authors.lastname: Pfohl
authors.forename: M
authors.initials: M
authors.lastname: Enderle
authors.forename: G
authors.initials: G
authors.lastname: Schnauder
authors.forename: F J
authors.initials: FJ
authors.lastname: Seif
mesh_terms: D000225:Adenine / Q000032:analysis; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001161:Arteriosclerosis / Q000235:genetics*; D001797:Blood Protein Electrophoresis; D003062:Codon; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006147:Guanine / Q000032:analysis; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000235:genetics* / Q000517:prevention & control; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000517:prevention & control; D017354:Point Mutation / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D003062:Codon; D011973:Receptors, LDL; D006147:Guanine; D000225:Adenine