Study on characteristics of gene mutation G6PD in patient of enzyme G6PD deficiency

Abstract

G6PD deficiency is the most common genetic enzyme pathology in humans. The disease is caused by a gene mutation G6PD-the majority of cases are asymptomatic when exposed to oxidizing agents (drugs, chemicals, or foods). The disease is temporarily stopped at symptomatic treatment, so early detection is to help improve the quality of life for the patient, to prevent possible complications. The study was conducted to detect mutations in all regions of the gene G6PD. Through the study of 262 boys, 38 girls in 25 provinces in the northern region of Vietnam of 5 ethnic groups showed the results finding 11 deviated mutations that affect the coding region of the G6PD gene is Viangchan (c.871G> A) (24.33%), Kaipping (c.1388G> A) (22.67%), Canton (c.1376G> T) (18.67%), Union (c.1360C> T) (13.33%), Gaohe (cc95A > G) (6.67%), QuingYuang (c.392G> T) (4.33%), Chiniese-5 (c.1024C> T) (4.33%), Orissa (c.131C> G) (1.33%) Chatham (c.1003G> A) (1%) and Taiwan2 (c.1330G> A) (0.33%); 78/297 cases of silent mutation (c.1311C> T) associated with most of the above mutations. Discovered 2 mutant forms Orisa and Taiwan 2 that have never appeared in Vietnam. These mutations are spread evenly among the Kinh, Muong, Tay, Nung and Thai ethnic groups, of which the Kinh mainly carry the Viangchan mutation, the remaining Muong are the Union and the Tay, Nung Thai are most of Kaiping mutation