title: Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.
abstract: 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 conformation 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.
authors.affiliation: Department of Medical Zoology, Jichi Medical School, Tochigi, Japan. kuni@jichi.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Iwai
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: H
authors.initials: H
authors.lastname: Matsuoka
authors.forename: F
authors.initials: F
authors.lastname: Kawamoto
authors.forename: T
authors.initials: T
authors.lastname: Horie
authors.forename: K
authors.initials: K
authors.lastname: Lin
authors.forename: I S
authors.initials: IS
authors.lastname: Tantular
authors.forename: Y P
authors.initials: YP
authors.lastname: Dachlan
authors.forename: H
authors.initials: H
authors.lastname: Notopuro
authors.forename: N I
authors.initials: NI
authors.lastname: Hidayah
authors.forename: A M
authors.initials: AM
authors.lastname: Salim
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: S
authors.initials: S
authors.lastname: Miwa
authors.forename: A
authors.initials: A
authors.lastname: Ishii
mesh_terms: D019943:Amino Acid Substitution; D001210:Asia, Southeastern / Q000453:epidemiology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005843:Geography; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase