NGHIÊN CỨU ĐỘT BIẾN GEN G6PD CỦA MỘT SỐ GIA ĐÌNH MIỀN BẮC VIỆT NAM

Abstract

G6PD deficiency is the most common genetic enzyme pathology in humans, caused by a gene mutation in the G6PD gene. The majority of cases of G6PD deficiency are asymptomatic or mild. However, exposure to oxidizing agents (drugs, chemicals, highly oxidizing foods) can lead to hemolytic attacks. Up to now, G6PD deficiency is only temporary symptomatic treatment, so early detection is intended to advise on improving quality of life and preventing possible complications. We conducted research on G6PD gene mutation in some families in the North of Vietnam with the following results in order to: Identify genetic identification of G6PD
gene mutation. With 7 pairs of primers, using genetic sequencing techniques from members of 12 families of children lacking G6PD, from 8 provinces in the North of 5 ethnic groups of Kinh, Muong, Tay, Nung, Thai, mutation results the G6PD gene is as follows: identify 6 types of mutations: Orissa (131 C> G), Valladolid (406 C> T), Viangchang (c.871G> A), Union (c.1360C>T), Canton ( c.1376G> T), Kaiping (c.1388G> A), there are 2 types of mutations that have never been detected in Vietnam: Orissa (131 C> G) and Valladolid (406 C> T). According to genotype 24/42 is heterozygous, 1/42 is homozygous, 18/42 is hemirozygous. Genetic form: 7/12 grandmother passed to her daughter, 5/12 grandmother passed to her daughter and 1/12  grandmother passed to her son.