Umut Kokbas
Cukurova University, Turkey
Title: Detection of β-thalassemia IVSI-110 mutation by using piezoelectric biosensor for non-invasive prenatal diagnosis
Biography
Biography: Umut Kokbas
Abstract
Statement of the Problem: β-thalassemia is one of the most monogenic autosomal recessive disorders characterized by defective production of the β-chain of hemoglobin. Definition of the β-globin genotype is necessary for genetic counseling in the carriers, and for predicting prognosis and management options in the patients with thalassemia. DNA-based prenatal diagnosis of β-thalassemia routinely relies on polymerase chain reaction (PCR) and gel electrophoresis. The aim of this study is to develop a new procedure, a DNA-based piezoelectric biosensor, for the detection of β-thalassemia IVSI-110 mutation fetuses cell free DNA from maternal blood, the most common β-thalassemia mutation in Turkey.
Methodology & Theoretical Orientation: Cell-free fetal DNA was taken from maternal whole blood. Bioactive layer was constituted by binding 2-hidroxymetacrilate metacriloamidoscystein (HEMA-MAC) nano-polymers on the electrode’s surface. Single oligonucleotide probes specific for IVSI-110 mutation of β-thalassemia were attached to the nano-polymer. The measurements were executed by piezoelectric resonance frequency which is caused by binding of the cell-free fetal DNA in media with single oligonucleotide probe on the electrode surface. The results were confirmed by the conventional molecular method as ARMS.
Findings: The piezoelectric resonance frequencies obtained by hybridization of the cell free fetal DNA on bioactive layer were found 216±12, 273±6, and 321±9 Hz for the samples of normal β-globin, heterozygote, and homozygote of IVSI-110 mutation, respectively.
Conclusion & Significance: The developed biosensor serves as a specific result to IVSI- 110 mutation. It could accurately discriminate between normal and IVSI-110 mutation samples. Because of low costs, fast results, specificity and high detection/information effectiveness as compared with conventional prenatal diagnosis methods, we can offer this technique as an alternative to conventional molecular methods.