Abstract:

Objective To analyse the types of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in patients with G6PD deficiency. Methods The blood samples of 49 patients with G6PD deficiency and 100 normal subjects confirmed by G6PD activity detection were collected. Sequence analysis was performed on 12 exons from 2 to 13 by PCR and DNA sequencing. Results Twelve different missense G6PD mutations were detected, and the three most common mutations were G6PD G1388A (26.5%), G1376T (28.6%) and A95G (14.3%). The G6PD activity of these individuals was 5% to 18% of that of normal subjects. The clinical manifestations of these subjects were acute hemolytic anemia trigged by ingestion of fava bean and neonatal jaundice. The other mutations included C1024T (4.1%), C1225T (2.0%), C1159T (2.0%), G487A (4.1%), G392T (4.1%), G1160A (6.1%), G871A / C1311T (4.1%) and C 406T/C1311T (2.0%). A novel missense mutation (G691 C) in exon 7 of the G6PD gene predicting a single amino acid substitution, Ala231Pro was identified. The same gene mutations were not detected in samples of normal subjects. Conclusion G6PD gene G1388A, G1376T and A95G are the three most common types of G6PD gene mutations in patients with G6PD deficiency. A novel missense mutation G691C is found, which produces an Ala231Pro substitution and leads to significantly decreased G6PD activity in red blood cells.

Key words: glucose-6-phosphate dehydrogenase, missense mutation, G691C, Ala231Pro