Determination of apolipoprotein E genotypes by single-strand conformational polymorphism

Michael Y Tsai, Peg Suess, Kerry Schwichtenberg, John H. Eckfeldt, Jiana Yuan, Mendel Tuchman, Donald Hunninghake

Research output: Contribution to journalArticle

24 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2121-2124
Number of pages4
JournalClinical chemistry
Volume39
Issue number10
StatePublished - Jan 1 1993

Keywords

  • electrophoresis, polyacrylamide
  • gene mutations
  • lipids

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