Advertisement

Human Genetics

, Volume 80, Issue 1, pp 90–94 | Cite as

β-Globin gene linked DNA haplotypes and frameworks in three South-East Asian populations

  • J. Hundrieser
  • T. Sanguansermsri
  • T. Papp
  • Marion Laig
  • G. Flatz
Original Investigations

Summary

DNA haplotypes and frameworks (numbers in parenthesis) linked to the β-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal β-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB*E from three South-East Asian populations with high HBB*E frequencies (northern Thailand, north-eastern Thailand and Cambodia). A systematic nomenclature for β-globin gene-linked haplotype characterized by six polymorphic sites is introduced. In all populations, HBB*A occurred preferentially (>80%) in linkage with the haplotype 41 (+----+) and all three frameworks described by Antonarakis et al. (1982). In contrast, almost 80% of the HBB*E genes occurred with the haplotype 27 (-+-+++). In northern and north-eastern Thailand, HBB*E was present almost exclusively in framework 2; HBB*E in framework 3 (Asian) was limited to the Khmer population of Cambodia, and the frequency of HBB* E-linked framework 3 increased from the west to the east in this country.

Keywords

Internal Medicine Restriction Endonuclease Metabolic Disease Restriction Fragment Asian Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Antonarakis SE, Orkin SH, Kazazian HH, Goff SC, Boehm CD, (1982) Evidence for multiple origins of the βE gene in Southeast Asia. Proc Natl Acad Sci USA 79:6608–6611Google Scholar
  2. Deka R, Gogoi BC, Hundrieser J, Flatz G (1987) Hemoglobinopathies in Northeast India. Hemoglobin 11:172–174Google Scholar
  3. Flatz G (1967) Hemoglobin E: distribution and population dynamics. Humangenetik 3:189–234Google Scholar
  4. Flatz G, Pik C, Sringam S (1965) Haemoglobin E and β-thalassaemia: their distribution in Thailand. Ann Hum Genet 29:151–170Google Scholar
  5. Fucharoen S, Winichagoon P (1987) Hemoglobinopathies in South-east Asia. Hemoglobin 11:55–88Google Scholar
  6. Hundrieser J, Deka R, Gogoi BC, Papp T, Flatz G (1988) β-Globin gene associated DNA haplotypes and frameworks in the Kachari population of Assam (India). Hum Hered (in press)Google Scholar
  7. Huisman TJH, Jonxis JHP (1977) The hemoglobinopathies. Techniques of identification. Dekker, New York, pp 142–149Google Scholar
  8. Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG (1984a) Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J 3:593–596Google Scholar
  9. Kazazian HH, Waber PG, Boehm CD, Lee JI, Antonarakis SE, Fairbanks VF (1984b) Hemoglobin E in Europeans: further evidence for multiple origins of the The Pi polymorphism: genetic, biochemical, and clinical aspects of human βE-globin gene. Am J Hum Genet 36:212–217Google Scholar
  10. Kruatrachue M, Bhaibulaya M, Klongkamnaunkarn K, Harinasuta C (1969) Haemoglobinopathies and malaria in Thailand. Bull WHO 40:459–463Google Scholar
  11. Law DJ, Frossard PM, Rucknagel DL (1984) Highly sensitive and rapid gene mapping using miniaturized blot hybridization: application to prenatal diagnosis. Gene 28:153–158Google Scholar
  12. Livingstone FB (1985) Frequencies of hemoglobin variants, thalassemia, the glucose-6-phosphate dehydrogenase deficiency, G6PD variants, and ovalocytosis in human populations. Oxford University Press, New York, p 67Google Scholar
  13. Nakatsuji T, Kutlar A, Kutlar F, Huisman THJ (1986) Haplotypes among Vietnamese hemoglobin E homozygotes including one with a γ-globin gene triplication. Am J Hum Genet 38:981–983Google Scholar
  14. Powers PA, Smithies O (1986) Short gene conversions in the human fetal globin region: a by-product of chromosome pairing during meiosis? Genetics 112:343–358Google Scholar
  15. Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517Google Scholar
  16. Voegelin CF, Voegelin FM (1977) Classification and index of the world's languages. Elsevier, New York AmsterdamGoogle Scholar

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • J. Hundrieser
    • 1
  • T. Sanguansermsri
    • 2
  • T. Papp
    • 1
  • Marion Laig
    • 1
  • G. Flatz
    • 1
    • 2
  1. 1.Abteilung für HumangenetikMedizinische HochschuleHannover 61Federal Republic of Germany
  2. 2.Human Genetics Unit, Faculty of MedicineChiangmai UniversityChiangmaiThailand

Personalised recommendations