Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary enzymopathy. We describe here the techniques based on matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) and multiprimer extension (multi-PEX) to detect the most common Chinese G6PD mutations, which are the single-point mutations G→T at nt 1376, G→A at nt 1388, A→G at nt 95, G→T at nt 392, C→T at nt 1024, and C→T at nt 1311. Fifteen samples were genotyped using this method coupled with direct sequencing, after identification of G6PD mutations by ARMS. In this study, we identified a mutation G→T at nt 1376, which had been G→A at nt 1388 using ARMS, while the result of sequencing corresponds with ours. This indicates the reliability of this method. Furthermore, since it can scan six common Chinese G6PD mutations simultaneously in one mass spectrum, this approach could be used to fast diagnose these G6PD mutations accurately in large-scale analysis.