Molecular genetic study on G6PD deficiency in Philippines

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A method to screen G6PD deficiency was established by measuring enzyme activity in whole blood spotted on a filter paper. Screening of G6PD deficiency was conducted in peoples living in metro Manila area. Around 30,000 neonates were screened for G6PD deficiency and 3.6% of neonates were found to be G6PD deficiency. Although more than 300 different G6PD variants have been distinguished on the basis of biochemical parameters suggesting a vast genetic heterogeneity, only a small portion of this heterogeneity has been confirmed at the DNA.To facilitate clarification of molecular pathogenesis of G6PD deficiency, we have invented a new mutation analysis system named MPTP (Multiplex PCR with tandem primers). By MPTP a single nucleotide change on the G6PD gene can be detected by doing PCR within two days. We applied MPTP to detect mutations ofl2 different mutations and identified mutations in most of cases.Some cases had no mutation identified by MPTP and the full length of the coding region of the G6PD gene was sequenced. As a result, a novel mutation of T198A was identified.