Molecular Diagnosis of Glucose-6-Phosphate Dehydrogenase (G6PD) Mutations

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human inherited diseases affecting people worldwide. We and others have recently identified that several different types of mutations are respon-sible for G6PD polymorphism in Chinese. In this communication, we described the PCR-mediated Restriction Site Modification (PRSM) method for quick di-agnosis of the 95A-＞G mutation, the 1376G-＞T mutation, and a compound heterozygosity (487G-＞A/1388G-＞A) in three affected Chinese families with G6PD deficiency. Since no isotopic labeling and no genomic DNA preextrac-tion are required for DNA diagnosis, the PRSM method will greatly benefit the detection of known G6PD mutations at the DNA level. In this report, we also summarize all naturally or artificially created or deleted restriction sties gen-erated by all reported G6PD mutations. This information will be very helpful for designing suitable primers to detect all known G6PD mutations.