TITLE:
Proline-leucine polymorphism of human glutathione peroxidase 1 in Thalassemia major
AUTHORS:
Vishal Bhargava, Manoj Gulati, Neelima Singh, Richa Bhargava
KEYWORDS:
GPX1; Thalassemia; SNP
JOURNAL NAME:
Advances in Bioscience and Biotechnology,
Vol.4 No.6,
June
24,
2013
ABSTRACT: Thalassemia is associated with low antioxidant enzyme
deficiency especially glutathione peroxidase. GPX exists in 6 isomeric forms
out of which GPX1 Single Nucleotide Polymorphism is found to be associated with
Thalassemia major. In our study, the determination of the allelic frequency
and phenotype of a common polymorphism in Se-dependent glutathione peroxidase
1 (GPX1) was observed in Thalassemic populations. A proline/leucine variant
occurs at position 197 close to the C-terminus of the protein. The genotypes
encoding Pro/Pro, Pro/Leu, and Leu/ Leu are distributed according to the Hardy-Weinberg
relationship. The study has been carried out in 40 Thalassemic cases and 40
control subjects. No significant association between allele frequency and risk
to get fatal was evident. Erythrocyte GPX activity was determined and no
significant differences were obtained between the genotypes. It can be concluded
that the Pro/Leu genetic variation does not appear to compromise the defense
against oxidative stress in red blood cells or to be associated with
significant pathology.