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Updated: May 18, 2026
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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
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
Summary
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.
- 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.
