Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a heterogeneous enzy me abnormality with high frequency in tropical areas. We performed populati on screening and molecular studies of G6PD variants to clarify their distri bution and features in Southeast Asia. A total of 4317 participants (2019 m ales, 2298 females) from 16 ethnic groups in Myanmar, Lao in Laos, and Ambo inese in Indonesia were screened with a single-step screening method. The p revalence of G6PD-deficient males ranged from 0% (the Akha) to 10.8% (the S han). These G6PD-deficient individuals and 12 G6PD-deficient patients who h ad been diagnosed at hospitals in Indonesia and Malaysia were subjected to molecular analysis by a combination of polymerase-chain-reaction-based sing le-strand conformation polymorphism analysis and direct sequencing. Ten dif ferent missense mutations were identified in 63 G6PD-deficient individuals (50 hemizygotes, I I heterozygotes, and 2 homozygotes) from 14 ethnic group s. One missense mutation (1291 G -->A) found in an Indonesian Chinese, viz. , G6PD Surabaya, was previously unknown. The 487 G -->A (G6PD Mahidol) muta tion was widely seen in Myanmar, 383 T -->C (G6PD Vanua Lava) was specifica lly found among Amboinese, 871 G -->A (G6PD Viangchan) was observed mainly in Lao. and 592 C -->T (G6PD Coimbra) was found in Malaysian aborigines (Or ang Asli). The other five mutations, 95 A -->G (G6PD Gaohe), 1003 G -->A (G 6PD Chatham), 1360 C -->T (G6PD Union), 1376 G -->T (G6PD Canton), and 1388 G -->A (G6PD Kaiping) were identified mostly in accordance with distributi ons reported previously.