title: Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis.
abstract: Familial defective apolipoprotein B-100 (FDB) is a dominantly-inherited genetic disorder causing primary hypercholesterolemia and premature coronary heart disease. To date, only two mutations causing FDB have been identified. A rapid non-radioactive technique is described to detect both disease-related apolipoprotein B point mutations in polymerase chain reaction (PCR) products amplified from genomic DNA. Heteroduplex formation between different alleles from FDB heterozygotes was shown to be visible directly after electrophoresis of PCR products and staining in low cross-linking polyacrylamide gels. We found that the simplicity of the method, in addition to its potential to identify new mutations in the amplified PCR product, makes heteroduplex detection the preferred initial method of screening potential heterozygotes.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: E
authors.initials: E
authors.lastname: Langenhoven
authors.forename: A V
authors.initials: AV
authors.lastname: Peeters
authors.forename: L
authors.initials: L
authors.lastname: Theart
authors.forename: C J
authors.initials: CJ
authors.lastname: Oosthuizen
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D003327:Coronary Disease / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000302:isolation & purification*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D009692:Nucleic Acid Heteroduplexes; D011973:Receptors, LDL