Genotyping of a patient homozygous for a rare apolipoprotein E1 [Gly127-->Asp; Arg158-->Cys] (Weisgraber allele).
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[Gly127-->Asp; Arg158--> Cys] (Weisgraber allele). The nucleotide change results in a glycine to aspartic acid substitution at amino acid 127 in the apolipoprotein E2.
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Departement de Biochimie Medicale et Biologie Moleculaire, Universite de Bordeaux 2, Bordeaux, France.
Richard
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de Zulueta
M P
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Thomas
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Thomas
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M
D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation
D001057:Apolipoproteins E; C040661:apolipoprotein E1