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Identification of glucose 6 phosphate dehydrogenase mutations by single strand conformation polymorphism and gene sequencing analysis

Objective: To identify mutation among Turkish individuals who demonstrated deficiency of glucose 6 phosphate dehydrogenase(G 6 P D). Design: Laboratory based experimental study. Setting: The molecular diagnostic laboratory of the Royal Postgraduate medical school Hammersmith Hospital, London Subject: Six DNA samples from Turkish males confirmed to have G-6-PD deficiency where available for the study. Results: One subject was found to have an abnormal mobility shift on SSCP in exon 9 and subsequent direct gene sequencing of exon 9 revealed a single base change at position 1003 G>A. This causes an amino acid substitution Alanine > Threonine at position 335: This mutation is G6PD chatham. All the other 5 DNA samples did not show any abnormal mobility shift on SSCP Conclusion: The stepwise PCR-SSCP and direct gene sequencing is a faster and more convenient method of identifying mutations. In this study the yield was low. Only one of the six Turkish DNA samples confirmed as G6PD deficient showed abnormal mobility shift on SSCP and was identified as G6PD Chatham on gene sequencing.