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Genotyping of a patient homozygous for a rare apolipoprotein E1 [Gly 127 →Asp; Arg 158 →Cys] (Weisgraber allele)
Author(s) -
Iron A.,
Richard P.,
Pascual de Zulueta M.,
Thomas G.,
Thomas M.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02436763
Subject(s) - genotyping , apolipoprotein b , allele , genotype , biology , genetics , restriction enzyme , microbiology and biotechnology , biochemistry , gene , cholesterol
Summary We examined the apolipoprotein E polymorphism of an obese patient presenting non‐insulin‐dependent diabetes, hypertension and moderate lipid disturbances. The apolipoprotein E genotyping carried out from leukocyte DNA using PCR amplification and restriction enzyme digestion demonstrated homozygosity for the rare apoE1[Gly 127 →Asp; Arg 158 →Cys] (Weisgraber allele). The nucleotide change results in a glycine to aspartic acid substitution at amino acid 127 in the apolipoprotein E2.