title: Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in humans. The prevalence of G6PD deficiency and its molecular basis were studied in Phuket islanders, Southern Thailand. A total of 345 volunteers (123 males and 222 females) were recruited in this study. Infection with Plasmodium falciparum or Plasmodium vivax was not detected in any of these subjects by polymerase chain reaction (PCR)-based diagnosis. G6PD-deficient individuals were identified with the WST-8/1-methoxy PMS method. The molecular basis of G6PD deficiency was investigated by PCR-direct sequencing procedures or PCR-restriction enzyme fragment length polymorphism assays. The numbers of individuals showing severe and mild G6PD deficiency were 14 and 21, respectively. A high prevalence of G6PD deficiency was observed in subjects with Moken (15.4%) or Thai (15.5%) ethnic background. G6PD Mahidol (487G>A) (n=14), G6PD Viangchan (871G>A) (n=11), G6PD Gaohe (95A>G) (n=2), G6PD Kaiping (1388G>A) (n=1), and G6PD Kerala-Kalyan (949G>A) (n=1) were identified. The results suggest that several groups of people of the Asian Continent, such as Burmese, Laotian or Cambodian, Thai and Chinese, participated in the establishment of the ethnic identity of the current ethnic groups of Phuket Island.
authors.affiliation: Department of Biological Sciences, Unit of Human Genetics, Graduate School of Science, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Ninokata
authors.affiliation: Department of Human Genetics, School of International Health, Graduate School of Medical Sciences, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Kimura
authors.affiliation: Rawai Health Center, Phuket, Thailand.
authors.forename: Urai
authors.initials: U
authors.lastname: Samakkarn
authors.affiliation: Department of Physiology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Wannapa
authors.initials: W
authors.lastname: Settheetham-Ishida
authors.affiliation: Department of Biological Sciences, Unit of Human Genetics, Graduate School of Science, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan. tishida@biol.s.u-tokyo.ac.jp.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ishida
mesh_terms: D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics / Q000517:prevention & control; D006801:Humans; D008297:Male; D009154:Mutation; D013785:Thailand / Q000208:ethnology
chemical_list: D005954:Glucosephosphate Dehydrogenase