Eilly Goljan¹, Kevin M. Marsh¹, John B. Reeder², Ernest Beutler³*
β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. Paraoxonase 1 (PON1) is an enzyme associated with High density lipoprotein (HDL) in blood and it is considered to have antioxidant and antiatherogenic properties. The purpose of this study is to investigate the critical role between promoter polymorphism of PON1 gene and its paraoxonase activity in patients suffering from of β -Thalassaemia, Coast of Kenya. Genomic DNA was extracted from whole blood then genotyping was carried out using PCR and measured paraoxonase in the serum of 41 healthy subjects as control and 35 β -Thalassaemia patients. Haemoglobin types (HbA, HbS) were characterized by electrophoresis using cellulose acetate gels (Helena Laboratories, Beaumont, Texas, United States), full blood counts were conducted using an automated cell counter (MDII; Beckman Coulter, Fullerton, California, United States) by standard methods. Data was statistical analysis uses Graphpad prism 6 software. Our data revealed that paraoxonase activity of PON1 in the β -Thalassaemia was significantly lower in comparison with control group.
Keywords: Paraoxonase; PON1; β -Thalassaemia; SNPs
Copyright © 2017 by The American Society for BioMedicine and BM-Publisher, Inc.
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