Glucose - 6 - Phosphate Dehydrogenase (G6PD) variants in East Sepik Province of Papua New Guinea : G6PD Jammu, G6PD Vanua Lava, and a novel variant (G6PD Dagua)

概要

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A community-based survey was conducted to assess the prevalence of G6PD deficiency and malaria in two villages (St. Martins, Dagua) of Wewak district, East Sepik Province, Papua New Guinea. A total of 551 individuals were recruited for the study. Malaria was diagnosed in 96 cases (17.4%), and 28 subjects with G6PD deficiency (5.1%) were identified by the WST-8⁄1-methoxy PMS method. The sequence of the entire G6PD gene was determined in 19 of the 28 G6PD-deficient cases. We found ten cases with the G6PD Jammu variant (871 G>A, 1311 C) and eight cases with the G6PD Vanua Lava variant (383 T>C). A novel mutation (595 A>G) predicting an amino acid change from isoleucine to valine was identified. This mutation has not been reported to date and was named G6PD Dagua. The detection of three G6PD variants indicates the heterogeneity of the studied population, and these variants could be important genetic markers for clarifying the gene flow among the population of Southeast Asian and Pacific Island countries.
日本熱帯医学会の論文
2008-12-01