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Updated: Aug 4, 2026
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Validation of a single nucleotide polymorphism genotyping assay for the human serum paraoxonase gene using
1Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, Mayo Foundation and Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Objectives:
Develop a microarray based genotyping assay to detect SNPs in human paraoxonase (PON I) and compare its accuracy with DNA sequencing and RFLP based assays.
Design And Methods:
Amplicons spanning the polymorphic regions of interest were genotyped by sequencing, RFLP, and microarray technology. Validation parameters included precision, linearity of signal response, and carryover between adjacent sites on the microarray.
Results:
A 100% correlation in results obtained using DNA sequencing, RFLP and microarray technology was observed.
Conclusions:
The microarray technology provides an accurate and reliable assay platform with applicability in high throughput genotyping studies.
