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Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos
C L Silao1, T Shirakawa, K Nishiyama
1Division of Genetics, Kobe University School of Medicine, Japan.
Background:
Multiplex polymerase chain reaction (PCR) using multiple tandem forward primers and a common reverse primer (MPTP) was recently established as a comprehensive scanning system for mutations in X-linked recessive diseases. In this report, MPTP was tested to scan for mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene.
Methods:
Mutations in exon 11 of the G6PD gene were screened by MPTP in five 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 amino 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 three Filipino patients in the Philippines.
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