Isotyping the Human TOMM40 Variable-Length Polymorphism by Gene Amplification and Restriction Digest

Author(s): Steven J. Greco, Ashkan Hamzelou, Jane M. Johnston, Sandy Richardson, Mark A. Smith, George Perry, J. Wesson Ashford, Nikolaos Tezapsidis

Journal Name: Current Alzheimer Research

Volume 9 , Issue 10 , 2012

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Recent studies have shown that the translocase of outer mitochondrial membrane 40 homolog (TOMM40) contains a polymorphic poly-T variant, the long variant of which is associated with an increase in AD incidence among APOE ε3 carriers. Current methods to isotype the poly-T region rely on long PCR, subcloning and sequencing to distinguish among the allelic variants. While such methods are extremely accurate as well as quantitative in determining the number of T residues in the poly-T region, the process can be cumbersome, time consuming and expensive to employ in routine laboratories. To this end, we have developed a quick and simple method to isotype the human TOMM40 variablelength polymorphism using a PCR- and restriction digest-based approach, enabling rapid genotyping of TOMM40 variants.

Keywords: TOMM40, APOE, Alzheimer’s, genotyping, poly-T, RFLP, phosphorylated tau, hippocampal brain tissue, cerebellum

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Article Details

Year: 2012
Published on: 23 November, 2012
Page: [1168 - 1173]
Pages: 6
DOI: 10.2174/156720512804142921
Price: $65

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