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

K. Iwai, A. Hirono, H. Matsuoka, F. Kawamoto, T. Horie, K. Lin, I. S. Tantular, Y. P. Dachlan, H. Notopuro, N. I. Hidayah, A. M.A. Salim, H. Fujii, S. Miwa, A. Ishii

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104 Citations (Scopus)


Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a heterogeneous enzyme abnormality with high frequency in tropical areas. We performed population screening and molecular studies of G6PD variants to clarify their distribution and features in Southeast Asia. A total of 4317 participants (2019 males, 2298 females) from 16 ethnic groups in Myanmar, Lao in Laos, and Amboinese in Indonesia were screened with a single-step screening method. The prevalence of G6PD-deficient males ranged from 0% (the Akha) to 10.8% (the Shan). These G6PD-deficient individuals and 12 G6PD-deficient patients who had been diagnosed at hospitals in Indonesia and Malaysia were subjected to molecular analysis by a combination of polymerase-chain-reaction-based single-strand comformation polymorphism analysis and direct sequencing. Ten different missense mutations were identified in 63 G6PD-deficient individuals (50 hemizygotes, 11 heterozygotes, and 2 homozygotes) from 14 ethnic groups. One missense mutation (1291 G→A) found in an Indonesian Chinese, viz., G6PD Surabaya, was previously unknown. The 487 G→A (G6PD Mahidol) mutation was widely seen in Myanmar, 383 T→C (G6PD Vanua Lava) was specifically found among Amboinese, 871 G→A (G6PD Viangchan) was observed mainly in Lao, and 592 C→T (G6PD Coimbra) was found in Malaysian aborigines (Orang Asli). The other five mutations, 95 A→G (G6PD Gaohe), 1003 G→A (G6PD Chatham), 1360 C→T (G6PD Union), 1376 G→T (G6PD Canton), and 1388 G→A (G6PD Kaiping) were identified mostly in accordance with distributions reported previously.

Original languageEnglish
Pages (from-to)445-449
Number of pages5
JournalHuman Genetics
Issue number6
Publication statusPublished - 2001
Externally publishedYes


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