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DOI: 10.1515/cclm.2002.197
OpenAccess: Closed
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TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E

Werner Koch,Angela Ehrenhaft,Korinna Grießer,Arne Pfeufer,Jakob Müller,Albert Schömig,Adnan Kastrati

Apolipoprotein E
Genotype
Genotyping
2002
Polymorphisms of the gene encoding apolipoprotein E have been implicated in the pathogenesis of peripheral and coronary artery disease and neurodegenerative disorders such as sporadic and late-onset familial forms of Alzheimer's disease. We have developed TaqMan assay systems for the single nucleotide polymorphisms -219G/T, located in the promoter of the apolipoprotein E gene, 113G/C, present in the transcriptional enhancer element of intron 1, 334T/C, determining Cys or Arg as amino acid residue 112 of mature apolipoprotein E, and 472C/T, determining Arg or Cys as residue 158. The accuracy of genotype determination with the TaqMan systems was demonstrated by analyses with restriction endonucleases. We determined the genotypes of the apolipoprotein E polymorphisms in 2349 study subjects. The genotypes were distributed as: -219GG = 27.3%, -219GT = 49.1%, and -219TT = 23.6% (p = 0.435); 113GG = 41.3%, 113GC = 45.2%, and 113CC = 13.5% (p = 0.343); 334TT = 73.4%, 334TC = 24.7%, and 334CC = 1.9% (p = 0.539); 472CC = 86.3%, 472CT=12.8%, and 472TT= 0.9% ( p = 0.004) (Hardy-Weinberg equilibrium estimates are given in parentheses). The allele combinations which define the three major isoforms of apolipoprotein E, namely apoE2, apoE3, and apoE4, had the following allele frequencies: 334T/472T (epsilon2; 112Cys/158Cys) = 7.3%, 334T/472C (epsilon3; 112Cys/158Arg) = 78.4%, and 334C/472C (epsilon4; 112Arg/158Arg) = 14.2%, respectively. ApoE genotypes were distributed as: epsilon2epsilon2 = 0.9%, epsilon2epsilon3 = 11.2%, epsilon2epsilon4 = 1.6%, epsilon3epsilon3 = 61.3%, epsilon3epsilon4 = 23.1%, and epsilon4epsilon4 = 1.9% (p = 0.014). The TaqMan assays allow for fast and sensitive genotyping and are especially suitable for studies including large numbers of participants.
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    TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E” is a paper by Werner Koch Angela Ehrenhaft Korinna Grießer Arne Pfeufer Jakob Müller Albert Schömig Adnan Kastrati published in 2002. It has an Open Access status of “closed”. You can read and download a PDF Full Text of this paper here.