Identification of mutations within exon 2, 6 and 7 of G6PD gene in Vietnamese G6PD deficient patients

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies caused by the variety of genetic heterogeneity, especially spreading out in Vietnam. Still many researches have been done to determine the mutations associated with G6PD deficiency. This study was conducted to screen mutations within exon 2 and exon 6-7 which contributes for the project of identifying the causatives of this genetic disease in Vietnamese population. Focus on the work, thirty dried blood samples collected from newborn males were used to extract DNA, then running conventional polymerase chain reactions (conventional PCR) by two pairs of primers specific to two target fragments. Following, the PCR products were applied for sequencing to examine the mutations that may occur in these three exons. The results show that there was one mutation found in exon 2 and no mutation within exon 6-7. That is G6PD Gaohe Gaozhou, the substitution of G for A at Nucleotide 95 of cDNA sequence with the frequency of 1/30. The study supports one mutation for further researches on the frequency and level of association to G6PD deficiency in Vietnamese population. Moreover, the changes in nucleotides may locate elsewhere in remaining exons, thus the screening for all G6PD gene should be continued.