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. 2006 Feb;364(1-2):343-4.
doi: 10.1016/j.cccn.2005.06.017. Epub 2005 Sep 1.

Real time PCR assay with fluorescent hybridization probes for genotyping intronic polymorphism in presenilin-1 gene

Miguel Rodriguez-Manotas  1 , Manuel Amorin-Diaz, Inmaculada Viñals-Bellido, Juan Cabezas-Herrera, Pedro Martinez-Hernandez, Francisco Cañizares-Hernandez
Affiliations

Real time PCR assay with fluorescent hybridization probes for genotyping intronic polymorphism in presenilin-1 gene

Miguel Rodriguez-Manotas et al. Clin Chim Acta. 2006 Feb.

Abstract

Background: Identification of all susceptibility loci for Alzheimer's disease has been a major goal in resolving the pathogenesis of this disease.

Methods: A PCR assay with fluorescently labeled oligonucleotide hybrinization probes with subsequent fluorescent probe melting point analysis was developed.

Results: Allelic discrimination of intronic polymorphism of presenilin-1 gene and the restriction fragment length polymorphism method yielded identical results, proving its usefulness for genotyping PS1 gene.

Conclusions: This method provides excellent robustness, speed, and accuracy, and is well suited for determination of the polymorphism in both small and large numbers of samples. This assay could help to overcome the controversy regarding the association between the PS1 s165932 intronic polymorphism and Alzheimer's disease.

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