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

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

Volume: 9 Issue: 10

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

Affiliation:

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

Abstract: 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.

Cite this article as:

J. Greco Steven, Hamzelou Ashkan, M. Johnston Jane, Richardson Sandy, A. Smith Mark, Perry George, Wesson Ashford J. and Tezapsidis Nikolaos, Isotyping the Human TOMM40 Variable-Length Polymorphism by Gene Amplification and Restriction Digest, Current Alzheimer Research 2012; 9 (10) . https://dx.doi.org/10.2174/156720512804142921