Identification of mutation in G6PD gene in Nung ethnic patients with glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) is the key enzyme that initiates pentose phosphate cycle in glucose metabolism. Physiologically, this pathway main source of nicotinamide adenine dinucleotide (NADPH) for red blood cells. This study aims to identify glucose-6-phosphate mutations Nung ethnic patients with G6PD deficiency. 18 pediatric group were diagnosed deficiency at Vietnam National Children’s Hospital and applied PCR gene sequencing detect gene. 8 types mutation detected which most common wasKaiping (c.1388G>A) 44.4%, followed by Canton (c.1376G>T), Viangchan (c.871G>A), Union (c.1360C>T), Gaohe (c.95A>G), Orissa (c.131C>G), Chinese-5 (c.1024C>T). Silent 1311C>T location found 3 cases.