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

[ Vol. 9 , Issue. 10 ]


Steven J. Greco, Ashkan Hamzelou, Jane M. Johnston, Sandy Richardson, Mark A. Smith, George Perry, J. Wesson Ashford and Nikolaos Tezapsidis   Pages 1168 - 1173 ( 6 )


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.


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


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