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Thalassemia is associated with low antioxidant enzymedeficiency especially glutathione peroxidase. GPX exists in 6 isomeric formsout of which GPX1 Single Nucleotide Polymorphism is found to be associated withThalassemia major. In our study, the determination of the allelic frequencyand phenotype of a common polymorphism in Se-dependent glutathione peroxidase1 GPX1 was observed in Thalassemic populations. A proline-leucine variantoccurs at position 197 close to the C-terminus of the protein. The genotypesencoding Pro-Pro, Pro-Leu, and Leu- Leu are distributed according to the Hardy-Weinbergrelationship. The study has been carried out in 40 Thalassemic cases and 40control subjects. No significant association between allele frequency and riskto get fatal was evident. Erythrocyte GPX activity was determined and nosignificant differences were obtained between the genotypes. It can be concludedthat the Pro-Leu genetic variation does not appear to compromise the defenseagainst oxidative stress in red blood cells or to be associated withsignificant pathology.

KEYWORDS

GPX1; Thalassemia; SNP

Cite this paper

Bhargava, V. , Gulati, M. , Singh, N. and Bhargava, R. 2013 Proline-leucine polymorphism of human glutathione peroxidase 1 in Thalassemia major. Advances in Bioscience and Biotechnology, 4, 699-701. doi: 10.4236-abb.2013.46091.





Autor: Vishal Bhargava, Manoj Gulati, Neelima Singh, Richa Bhargava

Fuente: http://www.scirp.org/



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