Prevalence of 131 G to C Single Nucleotide Polymorphism of Glucose 6 Phosphate Dehydrogenase in The School Going Children of Kolkata.

Background: Glucose 6 phosphate dehydrogenase enzyme (G6PD) is an important enzyme for the shunt metabolism of glucose in humans.G6PD deficiency is an X linked recessive disorder and its partial deficiency is linked with the malaria endemicity.Severe free radical induced cellular membrane damage causing hemolysis occurs in cases of G6PD deficiency, particularly after Primaquin therapy used for treatment of Falciparum malaria.The overall deficiency of this deficiency is about 7.7 percent in our country.Among different genetic mutations, 131 G to C conversion has been reported in Eastern part of India.Methodology: Prevalence of G6PD deficiency along with its 131 G to C variants were assessed in 251 school children.G6PD was assayed using the kinetic method and was expressed in U/g of hemoglobin.The 131 G to C variants were assessed using PCR amplification of the gene followed by restriction digestion.Results: Only 7 children out of 251 were found to be deficient for G6PD and out of those 7 children only 1 child was found to have the mutant 131 C variety.The chi square and odds ratio for the mutant allele distribution were 0.7 and 0.12 to 9.4 (for 95% confidence interval) respectively.P value was insignificant for both.Conclusion: The G6PD deficiency in the school going children in our study region was well within the normal reference range in the context of both national and regional scenario.The 131 G to C SNP was not significantly associated with this deficiency in this region.