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Updated: May 18, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Isotyping the human TOMM40 variable-length polymorphism by gene amplification and restriction digest.

Steven J Greco1, Ashkan Hamzelou, Jane M Johnston

  • 1Neurotez, Inc. 991 Highway 22, Suite 200A Bridgewater, New Jersey 08807, USA.

Current Alzheimer Research
|September 7, 2012
PubMed
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A new method simplifies genotyping of the TOMM40 gene

Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • The translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene has a poly-T variant linked to Alzheimer's disease (AD) risk in APOE ε3 carriers.
  • Current methods for genotyping TOMM40 poly-T variants are accurate but time-consuming and costly.

Purpose of the Study:

  • To develop a rapid, cost-effective method for genotyping TOMM40 poly-T variants.
  • To facilitate routine laboratory use for assessing AD risk.

Main Methods:

  • A novel PCR- and restriction digest-based approach was developed.
  • This method distinguishes between different allelic variants of the TOMM40 poly-T region.

Main Results:

  • The new method provides a quick and simple way to genotype TOMM40 variants.

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  • It enables rapid assessment of the poly-T region's length.
  • Conclusions:

    • This simplified genotyping method can accelerate research into TOMM40's role in Alzheimer's disease.
    • It offers a practical alternative to existing, more complex genotyping techniques.