title: Isotyping the human TOMM40 variable-length polymorphism by gene amplification and restriction digest.
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 3 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 variable length polymorphism using a PCR- and restriction digest-based approach, enabling rapid genotyping of TOMM40 variants.
authors.affiliation: Neurotez, Inc. 991 Highway 22, Suite 200A Bridgewater, New Jersey 08807, USA.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Greco
authors.forename: Ashkan
authors.initials: A
authors.lastname: Hamzelou
authors.forename: Jane M
authors.initials: JM
authors.lastname: Johnston
authors.forename: Sandy
authors.initials: S
authors.lastname: Richardson
authors.forename: Mark A
authors.initials: MA
authors.lastname: Smith
authors.forename: George
authors.initials: G
authors.lastname: Perry
authors.forename: J Wesson
authors.initials: JW
authors.lastname: Ashford
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Tezapsidis
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C400783:TOMM40 protein, human