title: Determination of apolipoprotein E genotypes by single-strand conformational polymorphism.
abstract: We used single-strand conformational polymorphism (SSCP) to determine apolipoprotein E (Apo E) genotypes in 47 individuals. A 295-base-pair (bp) DNA fragment coding for amino acid residues 80-178 of the Apo E protein gave distinct patterns for the three alleles. When we used SSCP to determine the Apo E polymorphism of five individuals whose phenotyping results differed from those of genotyping, the SSCP results agreed with the genotyping results obtained by the PCR-based amplification refractory mutation system (ARMS). Because most of the reported rare alleles of the Apo E gene involve mutations of amino acid residues in positions 120-160, our SSCP method is useful for determining rare as well as common alleles.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455.
authors.forename: M Y
authors.initials: MY
authors.lastname: Tsai
authors.forename: P
authors.initials: P
authors.lastname: Suess
authors.forename: K
authors.initials: K
authors.lastname: Schwichtenberg
authors.forename: J H
authors.initials: JH
authors.lastname: Eckfeldt
authors.forename: J
authors.initials: J
authors.lastname: Yuan
authors.forename: M
authors.initials: M
authors.lastname: Tuchman
authors.forename: D
authors.initials: D
authors.lastname: Hunninghake
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D004277:DNA, Single-Stranded / Q000737:chemistry*; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D001057:Apolipoproteins E; D004277:DNA, Single-Stranded