Home LiteratureArticle Details
PMID: 2988335 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Melanesians and Polynesians share a unique alpha-thalassemia mutation.

American journal of human genetics ·Vol. 37 ·No. 3 ·1985-05-00 ·Pages 571-80

Hill AV, Bowden DK, Trent RJ, Higgs DR, Oppenheimer SJ, Thein SL, Mickleson KN, Weatherall DJ, Clegg JB

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.

MeSH Terms
Chromosome Deletion DNA Restriction Enzymes Genes Genetic Markers Globins/genetics Humans Melanesia Mutation Polynesia Thalassemia/epidemiology,genetics
Chemicals
Genetic Markers Globins DNA Restriction Enzymes
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Hill A V
Bowden D K
Trent R J
Higgs D R
Oppenheimer S J
Thein S L
Mickleson K N
Weatherall D J
Clegg J B
References (30)
30 references, click to expand
  1. GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY, THALASSAEMIA, AND ABNORMAL HAEMOGLOBINS IN THE PHILIPPINES.
    J Med Genet. 1964 Dec;1(2):102-6 PMID: 14234103
  2. Population and genetic studies suggest a single origin for the Indian deletion beta thalassaemia.
    Br J Haematol. 1984 Jun;57(2):271-8 PMID: 6329257
  3. Alpha-thalassemia.
    Curr Top Hematol. 1983;4:37-97 PMID: 6352191
  4. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.
    Cell. 1980 May;20(1):119-30 PMID: 6446404
  5. Polymorphism and molecular pathology of the human beta-globin gene.
    Prog Hematol. 1983;13:49-73 PMID: 6366914
  6. Highly variable regions of DNA flank the human alpha globin genes.
    Nucleic Acids Res. 1981 Sep 11;9(17):4213-24 PMID: 6272199
  7. 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):1253-7 PMID: 6713099
  8. 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):853-6 PMID: 6583683
  9. Gamma thalassemia resulting from the deletion of a gamma-globin gene.
    Nucleic Acids Res. 1983 Jul 11;11(13):4635-43 PMID: 6306596
  10. Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.
    Nucleic Acids Res. 1984 Sep 25;12(18):6965-77 PMID: 6091047
  11. Alpha thalassaemia in Papua New Guinea.
    Lancet. 1984 Feb 25;1(8374):424-6 PMID: 6142152
  12. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.
    J Clin Invest. 1980 Dec;66(6):1319-25 PMID: 7440717
  13. Alpha thalassemia in American-born Filipino infants.
    J Pediatr. 1975 Nov;87(5):756-8 PMID: 1185342
  14. A novel alpha-globin gene arrangement in man.
    Nature. 1980 Apr 17;284(5757):632-5 PMID: 6245373
  15. Multiple arrangements of the human embryonic zeta globin genes.
    Nucleic Acids Res. 1982 Oct 11;10(19):5853-68 PMID: 6292855
  16. 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 PMID: 6034517
  17. Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.
    Am J Hum Genet. 1984 Jan;36(1):212-7 PMID: 6198908
  18. alpha-globin gene deletions associated with Hb J Tongariki.
    Br J Haematol. 1982 Jun;51(2):243-9 PMID: 6979350
  19. Triplicated alpha-globin loci in humans.
    Proc Natl Acad Sci U S A. 1980 Jan;77(1):518-21 PMID: 6928643
  20. Micronesian prehistory: an archeological overview.
    Science. 1983 Feb 25;219(4587):922-7 PMID: 17817916
  21. Haemoglobin of new-born infants in Indonesia.
    Nature. 1959 Apr 18;183(4668):1125-6 PMID: 13657024
  22. 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):511-7 PMID: 4168861
  23. DNA restriction fragment length polymorphisms and heterozygosity in the human genome.
    Hum Genet. 1984;66(1):1-16 PMID: 6321327
  24. Molecular basis of length polymorphism in the human zeta-globin gene complex.
    Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022-6 PMID: 6308667
  25. 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):343-61 PMID: 6607679
  26. Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination.
    J Biol Chem. 1983 Dec 25;258(24):15245-54 PMID: 6317690
  27. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.
    Cell. 1977 Sep;12(1):205-18 PMID: 561664
  28. Haemoglobin J Tongariki is associated with alpha thalassaemia.
    Nature. 1978 May 25;273(5660):319-20 PMID: 652041
  29. Occurrence of heterozygotes and homozygotes for the alpha-chain haemoglobin variant Hb-J(Tongariki) in New Guinea.
    Nature. 1972 Jan 7;235(5332):46-7 PMID: 4550394
  30. The colonization of the Pacific: the story according to human leukocyte antigens.
    Am J Hum Genet. 1982 Nov;34(6):904-18 PMID: 7180847
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-05-00
Pages
571-80
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684581
Subset
IM
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2