Surface plasmon resonance and biosensor technology for real-time molecular diagnosis of beta o 39 thalassemia mutation.

Background: Biospecific interaction analysis (BIA) employing surface plasmon resonance (SPR) and biosensor technologies is of interest in clinical genetics. However, few data are available on its use in hereditary diseases caused by genetic mutations.

Aim: The primary aim of this study was the refinement of BIA technology for use in identifying the beta o 39 mutation of the beta-globin gene, a mutation which causes a common type of beta o thalassemia.

Methods: Target-biotinylated PCR products were immobilized on streptavidin-coated sensor chips and diagnosed using SPR-based BIA performed by injecting specific oligonucleotide probes into the sensor chip.

Results: We demonstrated that the beta o 39 mutation can be easily and reproducibly identified during the association phase.

Conclusions: This should be considered a pilot study demonstrating the ability of SPR-based BIA to detect point mutations in the beta-globin gene by real-time monitoring of hybridization between oligonucleotide probes and target-biotinylated PCR products generated from genomic DNA from normal, heterozygous individuals and homozygous beta o thalassemia patients.