Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1985 May;37(3):571–580.

Melanesians and Polynesians share a unique alpha-thalassemia mutation.

A V Hill, D K Bowden, R J Trent, D R Higgs, S J Oppenheimer, S L Thein, K N Mickleson, D J Weatherall, J B Clegg
PMCID: PMC1684581  PMID: 2988335

Abstract

Several genetic markers that provide information on population migrations and affinities have been detected by studies of proteins and cellular antigens in blood. Analysis of DNA polymorphisms promises to yield many further population markers, and we report here the distribution of a new alpha-globin gene deletion (-alpha 3.7 III) detected by a restriction enzyme mapping. This is found frequently in Melanesians and Polynesians but not in five other populations in which alpha-thalassemia is prevalent. We used restriction enzyme haplotype analysis to support a single origin for this mutation and propose that it is a useful population marker. Its geographical distribution supports a route through Island Melanesia for the colonizers of Polynesia.

Full text

PDF
571

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Antonarakis S. E., Boehm C. D., Serjeant G. R., Theisen C. E., Dover G. J., Kazazian H. H., Jr Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A. 1984 Feb;81(3):853–856. doi: 10.1073/pnas.81.3.853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Beaven G. H., Hornabrook R. W., Fox R. H., Huehns E. R. Occurrence of heterozygotes and homozygotes for the alpha-chain haemoglobin variant Hb-J(Tongariki) in New Guinea. Nature. 1972 Jan 7;235(5332):46–47. doi: 10.1038/235046a0. [DOI] [PubMed] [Google Scholar]
  3. Blake N. M., Hawkins B. R., Kirk R. L., Bhatia K., Brown P., Garruto R. M., Gajdusek D. C. A population genetic study of the Banks and Torres Islands (Vanuatu) and of the Santa Cruz Islands and Polynesian Outliers (Solomon Islands). Am J Phys Anthropol. 1983 Dec;62(4):343–361. doi: 10.1002/ajpa.1330620402. [DOI] [PubMed] [Google Scholar]
  4. Bowden D. K., Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. alpha-globin gene deletions associated with Hb J Tongariki. Br J Haematol. 1982 Jun;51(2):243–249. [PubMed] [Google Scholar]
  5. Cleve H., Kirk R. L., Gajdusek D. C., Guiart J. On the distribution of the Gc variant Gc Aborigine in Melanesian populations; determination of Gc-types in sera from Tongariki Island, New Hebrides. Acta Genet Stat Med. 1967;17(6):511–517. doi: 10.1159/000152104. [DOI] [PubMed] [Google Scholar]
  6. Cooper D. N., Schmidtke J. DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet. 1984;66(1):1–16. doi: 10.1007/BF00275182. [DOI] [PubMed] [Google Scholar]
  7. Craib J. L. Micronesian prehistory: an archeological overview. Science. 1983 Feb 25;219(4587):922–927. doi: 10.1126/science.219.4587.922. [DOI] [PubMed] [Google Scholar]
  8. Deisseroth A., Nienhuis A., Turner P., Velez R., Anderson W. F., Ruddle F., Lawrence J., Creagan R., Kucherlapati R. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay. Cell. 1977 Sep;12(1):205–218. doi: 10.1016/0092-8674(77)90198-2. [DOI] [PubMed] [Google Scholar]
  9. Embury S. H., Miller J. A., Dozy A. M., Kan Y. W., Chan V., Todd D. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest. 1980 Dec;66(6):1319–1325. doi: 10.1172/JCI109984. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Felice A. E., Cleek M. P., McKie K., McKie V., Huisman T. H. The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes. Blood. 1984 May;63(5):1253–1257. [PubMed] [Google Scholar]
  11. Gajdusek D. C., Guiart J., Kirk R. L., Carrell R. W., Irvine D., Kynoch P. A., Lehmann H. Haemoglobin J Tongariki (alpha-115 alanine--aspartic acid): the first new haemoglobin variant found in a Pacific (Melanesian) population. J Med Genet. 1967 Mar;4(1):1–6. doi: 10.1136/jmg.4.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Goodbourn S. E., Higgs D. R., Clegg J. B., Weatherall D. J. Molecular basis of length polymorphism in the human zeta-globin gene complex. Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022–5026. doi: 10.1073/pnas.80.16.5022. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Goossens M., Dozy A. M., Embury S. H., Zachariades Z., Hadjiminas M. G., Stamatoyannopoulos G., Kan Y. W. Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A. 1980 Jan;77(1):518–521. doi: 10.1073/pnas.77.1.518. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Higgs D. R., Goodbourn S. E., Wainscoat J. S., Clegg J. B., Weatherall D. J. Highly variable regions of DNA flank the human alpha globin genes. Nucleic Acids Res. 1981 Sep 11;9(17):4213–4224. doi: 10.1093/nar/9.17.4213. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Higgs D. R., Hill A. V., Bowden D. K., Weatherall D. J., Clegg J. B. Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution. Nucleic Acids Res. 1984 Sep 25;12(18):6965–6977. doi: 10.1093/nar/12.18.6965. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Higgs D. R., Old J. M., Pressley L., Clegg J. B., Weatherall D. J. A novel alpha-globin gene arrangement in man. Nature. 1980 Apr 17;284(5757):632–635. doi: 10.1038/284632a0. [DOI] [PubMed] [Google Scholar]
  17. Higgs D. R., Weatherall D. J. Alpha-thalassemia. Curr Top Hematol. 1983;4:37–97. [PubMed] [Google Scholar]
  18. Kazazian H. H., Jr, Waber P. G., Boehm C. D., Lee J. I., Antonarakis S. E., Fairbanks V. F. Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene. Am J Hum Genet. 1984 Jan;36(1):212–217. [PMC free article] [PubMed] [Google Scholar]
  19. Koenig H. M., Vedvick T. S. Alpha thalassemia in American-born Filipino infants. J Pediatr. 1975 Nov;87(5):756–758. doi: 10.1016/s0022-3476(75)80301-5. [DOI] [PubMed] [Google Scholar]
  20. LIE-INJO LUAN ENG Haemoglobin of new-born infants in Indonesia. Nature. 1959 Apr 18;183(4668):1125–1126. doi: 10.1038/1831125a0. [DOI] [PubMed] [Google Scholar]
  21. Lauer J., Shen C. K., Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions. Cell. 1980 May;20(1):119–130. doi: 10.1016/0092-8674(80)90240-8. [DOI] [PubMed] [Google Scholar]
  22. MOTULSKY A. G., STRANSKY E., FRASER G. R. GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY, THALASSAEMIA, AND ABNORMAL HAEMOGLOBINS IN THE PHILIPPINES. J Med Genet. 1964 Dec;1(2):102–106. doi: 10.1136/jmg.1.2.102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Michelson A. M., Orkin S. H. Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination. J Biol Chem. 1983 Dec 25;258(24):15245–15254. [PubMed] [Google Scholar]
  24. Old J. M., Clegg J. B., Weatherall D. J., Booth P. B. Haemoglobin J Tongariki is associated with alpha thalassaemia. Nature. 1978 May 25;273(5660):319–320. doi: 10.1038/273319a0. [DOI] [PubMed] [Google Scholar]
  25. Oppenheimer S. J., Higgs D. R., Weatherall D. J., Barker J., Spark R. A. Alpha thalassaemia in Papua New Guinea. Lancet. 1984 Feb 25;1(8374):424–426. doi: 10.1016/s0140-6736(84)91754-9. [DOI] [PubMed] [Google Scholar]
  26. Orkin S. H., Antonarakis S. E., Kazazian H. H., Jr Polymorphism and molecular pathology of the human beta-globin gene. Prog Hematol. 1983;13:49–73. [PubMed] [Google Scholar]
  27. Serjeantson S. W., Ryan D. P., Thompson A. R. The colonization of the Pacific: the story according to human leukocyte antigens. Am J Hum Genet. 1982 Nov;34(6):904–918. [PMC free article] [PubMed] [Google Scholar]
  28. Sukumaran P. K., Nakatsuji T., Gardiner M. B., Reese A. L., Gilman J. G., Huisman T. H. Gamma thalassemia resulting from the deletion of a gamma-globin gene. Nucleic Acids Res. 1983 Jul 11;11(13):4635–4643. [PMC free article] [PubMed] [Google Scholar]
  29. Thein S. L., Old J. M., Wainscoat J. S., Petrou M., Modell B., Weatherall D. J. Population and genetic studies suggest a single origin for the Indian deletion beta thalassaemia. Br J Haematol. 1984 Jun;57(2):271–278. doi: 10.1111/j.1365-2141.1984.tb02896.x. [DOI] [PubMed] [Google Scholar]
  30. Winichagoon P., Higgs D. R., Goodbourn S. E., Lamb J., Clegg J. B., Weatherall D. J. Multiple arrangements of the human embryonic zeta globin genes. Nucleic Acids Res. 1982 Oct 11;10(19):5853–5868. doi: 10.1093/nar/10.19.5853. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES