BACKGROUND: In southern China, glucose-6-phosphate dehydrogenase (G6PD) deficiency is a significant health problem. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD gene among Chinese Hakka in southern Guangdong province.

MATERIAL AND METHODS: We screened 611 unrelated subjects for G6PD genetic polymorphism analyzed by a gene chip analysis for common Chinese G6PD mutations. G-6-PD enzyme activity was determined by use of the G-6-PD quantitative detection kit.

RESULTS: Seven mutation sites were detected from subjects in our study. G6PD Canton (c.1376 G→T)(33.06%), G6PD Kaiping (c.1388 G→A)(30.67%), and polymorphism (c.1311 C→T)(25.89%) account for 89.62% of mutations, followed by G6PD Gaohe (c.95 A→G)(5.97%), G6PD Chinese-5 (c.1024 C→T)(3.58%), G6PD Maewo (c.1360 C→T)(0.39%), and G6PD Viangchan (c.871G→A)(0.39%).

CONCLUSIONS: We studied the genetic polymorphisms and frequencies of G6PD gene in the Hakka population of Meizhou. Our results coincide with the results among the Chinese Jiangxi Hakka population. It was consistent with previous research reports on Chinese people. There were differences in the results of reports from some other Asian populations. Our results could be useful for future prevention and control of G6PD deficiency aimed at the Chinese Hakka population.

Keywords: Asian Continental Ancestry Group, Glucosephosphate Dehydrogenase Deficiency, Polymorphism, Genetic