The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China.

Background: G6PD deficiency presents a higher incidence rate in southern China. Many variants of G6PD resulted from point mutations in the G6PD gene, which lead to decrease of enzyme activity. The objective of this study was to analyze the genotype of G6PD deficiency in four regions of Guangdong province.

Methods: Genotype of 1756 cases with G6PD deficiency was identified by reverse dot blotting (RDB). Unidentified Genotype of the samples was further ascertained by direct DNA sequencing.

Results: 34 genotype were found in 1756 cases of G6PD deficiency, Canton (c.1376 G>T) and Kaiping (c.1388 G>A) were the most common variants, accounting for more than 63% of G6PD deficiency individuals, and the following mutations were Gaohe (c.95 A>G), Chinese-5 (c.1024 C>T) and Chinese-4 (c.392 G>T). Two rare mutations Orisa (c.131 C>G) and IVS-5 637/638 T del have been discovered in this study. In addition, c.1311 C>T/IVS-1193 T>C polymorphism had a relatively high frequency in the normal G6PD individuals.

Conclusions: This study provided detailed genotypes of G6PD deficiency in Guangdong, and would be valuable for diagnosis and research of G6PD deficiency in this area.