Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos

Background: Multiplex polymerase chain reaction (PCR) using multiple tandem , forward primers and a common reverse primer (MPTP) was recently establish ed as a comprehensive scanning system for mutations in X-linked recessive d iseases, In this report, MPTP was tested to scan for mutations of the gluco sed-6-phosphate dehydrogenase (G6PD) gene. Methods: Mutations in exon 11 of the G6PD gene were screened by MPTP in fiv e unrelated Filipino cases with G6PD deficiency. Results: Of the five patients, four screened positive for a mutation in the gene. Sequencing of the amplified products confirmed that three cases had a C-->T substitution at nucleotide (n.t.) 1360 (C1360T) resulting in an ami no acid change of arginine to cysteine at position 454 and one had a silent single base substitution C-->T at nucleotide 1311. Conclusion: Our results document a C1360T mutation of the G6PD gene in thre e Filipino patients in the Philippines.