Abstract for presentation at 11th International Congress of Human Genetics

Distribution of glucose-6-phosphate dehydrogenase deficiency in Southeast Asia and Oceania

  • Ms Aya Ninokata, Graduate school of Science, The University of Tokyo, Japan
  • Prof Augustinus Soemantri, Faculty of Medicine, Diponegoro University, Indonesia
  • Dr Wannapa Settheetham-Ishida, Faculty of Medicine, Khon Kaen University, Thailand
  • Dr Danai Tiwawech, National Cancer Institute, Thailand
  • Dr Takafumi Ishida, Graduate school of Science, The University of Tokyo, Japan

    • To investigate peopling of Southeast Asia and Oceania, Glucose-6-phosphate dehydrogenase (G6PD) and its molecular bases were analyzed. G6PD deficiency thought to be associated with malaria resistance is the most common enzymopathy in humans and more than 140 variants have been identified with geographic and ethnic oriented distribution. Types of G6PD variants are thus expected to show the pattern of human migration and dispersal.
    Subjects were from ethnic groups of Thailand (n=7), the Philippines (n=1; Palawan Island), and Indonesia (n=7). G6PD deficient individuals were identified with either the WST-8/1-methoxy PMS method or Formazan-ring method. Molecular bases for the G6PD deficiency were investigated for G6PD deficient individuals by PCR-direct sequencing procedures, PCR-RFLP assays, and SSCP assays.
    Out of 15 ethnic groups studied, G6PD deficiency was found only in six. Prevalence of G6PD deficiency differed according to the ethnic groups; White Karen, one of the ethnic groups in northern Thailand showed the highest rate (8.7%) followed by Sumbanese in Indonesia (7.0%), and Shan in northern Thailand (6.5%). G6PD Mahidol (487G>A) was mainly found in northern Thailand, G6PD Viangchan (871G>A) in Philippine, and both G6PD Vanua Lava (383T>C) and G6PD Viangchan (871G>A) in Indonesia.
    We have revealed heterogeneity of G6PD variants in Southeast Asia and Oceania. The pattern of peopling in some legend was interestingly proved by the presence of certain types of G6PD. G6PD variants are useful genetic marks in the search for the human migration.

    Conference Organiser - ICMS Pty Ltd