Identification of mutations within exon 3, 4 and 5 of G6PD gene in Vietnamese G6PD deficient patients

Abstract

Glucose-6-phosphate dehydrogenase (G6PD), a common human enzymatic disorder has been determined by a variety of genetic heterogeneity. In Vietnam, the common mutations associated with G6PD deficiency have not been defined yet. Accordingly, the identification of mutations within exon 3, 4 and 5 in this study has been conducted to take part in the research about possibly causing mutations within G6PD gene in Vietnamese population. Focus to this aim, the DNA was extracted from dried peripheral blood samples of thirty unrelated G6PD deficient newborn males and PCR was performed to amplify exon 3, 4 and 5. Following, mutations was analyzed by direct DNA sequencing. The finding showed that one mutation was detected in exon 5 of G6PD gene while no mutation occurred in exon 3 and 4. That is G6PD Quing Yuan, the substitution of G to T in nucleotide 392 of G6PD cDNA, reported in a former research of Chiu in 1993. This result raises one mutation that would be used for further study about the frequency and its level of association with this enzyme deficiency. Moreover, this study also suggests that there may be other mutation located elsewhere on the G6PD genes that need to be continuously screened.