Abstract

This study was conducted to identify the common mutations occurring within theG6PD gene in the G6PD - Vietnamese deficient patients, which may be the main causative mutations of the G6PD deficiency in Vietnamese-kinh. Sequencing was performed to detect mutations in the coding region of G6PD gene for 30 Vietnamese-Kinh G6PD deficient patients. Seven sets of primers were designed to amplify and sequenced 13 coding regions of G6PD gene. Seven known types of mutations were detected. Each patient had at least one mutation in his G6PD gene. The most common mutation is the silent mutation 1311C>T with frequency of 56.66%. With the high frequency, the 1311C>T mutations are suggested as potential markers for G6PD deficiency in Vietnamese-kinh population.

Key words: G6PD deficiency, Vietnamese-Kinh, 1311C>T, Viangchan, Canton.