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. 1984 Jan;36(1):212–217.

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.

H H Kazazian Jr, P G Waber, C D Boehm, J I Lee, S E Antonarakis, V F Fairbanks
PMCID: PMC1684388  PMID: 6198908

Abstract

We have determined haplotypes for the known restriction site polymorphisms in the beta-globin gene cluster in two families of European ancestry containing individuals who are heterozygous for hemoglobin E. In both families, the beta E mutation is associated with a haplotype not previously found among the haplotypes of beta E chromosomes in Southeast Asia. Moreover, in one family, the mutation is present in a beta-gene framework not found in beta E chromosomes of Southeast Asia. These data provide further evidence of multiple independent origins of the beta E mutation in human populations.

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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., Giardina P. J., Kazazian H. H., Jr Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982 Jan;79(1):137–141. doi: 10.1073/pnas.79.1.137. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Antonarakis S. E., Orkin S. H., Kazazian H. H., Jr, Goff S. C., Boehm C. D., Waber P. G., Sexton J. P., Ostrer H., Fairbanks V. F., Chakravarti A. Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6608–6611. doi: 10.1073/pnas.79.21.6608. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Benz E. J., Jr, Berman B. W., Tonkonow B. L., Coupal E., Coates T., Boxer L. A., Altman A., Adams J. G., 3rd Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). J Clin Invest. 1981 Jul;68(1):118–126. doi: 10.1172/JCI110226. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dover G. Molecular drive: a cohesive mode of species evolution. Nature. 1982 Sep 9;299(5879):111–117. doi: 10.1038/299111a0. [DOI] [PubMed] [Google Scholar]
  5. Fairbanks V. F., Gilchrist G. S., Brimhall B., Jereb J. A., Goldston E. C. Hemoglobin E trait reexamined: a cause of microcytosis and erythrocytosis. Blood. 1979 Jan;53(1):109–115. [PubMed] [Google Scholar]
  6. Fairbanks V. F., Oliveros R., Brandabur J. H., Willis R. R., Fiester R. F. Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. Am J Hematol. 1980;8(1):109–121. doi: 10.1002/ajh.2830080112. [DOI] [PubMed] [Google Scholar]
  7. Flatz G. Hemoglobin E: distribution and population dynamics. Humangenetik. 1967;3(3):189–234. doi: 10.1007/BF00273124. [DOI] [PubMed] [Google Scholar]
  8. George D. L., Phillips J. A., 3rd, Francke U., Seeburg P. H. The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet. 1981;57(2):138–141. doi: 10.1007/BF00282009. [DOI] [PubMed] [Google Scholar]
  9. Jeffreys A. J. DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man. Cell. 1979 Sep;18(1):1–10. doi: 10.1016/0092-8674(79)90348-9. [DOI] [PubMed] [Google Scholar]
  10. Kan Y. W., Lee K. Y., Furbetta M., Angius A., Cao A. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med. 1980 Jan 24;302(4):185–188. doi: 10.1056/NEJM198001243020401. [DOI] [PubMed] [Google Scholar]
  11. Maniatis T., Kee S. G., Efstratiadis A., Kafatos F. C. Amplification and characterization of a beta-globin gene synthesized in vitro. Cell. 1976 Jun;8(2):163–182. doi: 10.1016/0092-8674(76)90001-5. [DOI] [PubMed] [Google Scholar]
  12. Moschonas N., de Boer E., Flavell R. A. The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences. Nucleic Acids Res. 1982 Mar 25;10(6):2109–2120. doi: 10.1093/nar/10.6.2109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982 Apr 15;296(5858):627–631. doi: 10.1038/296627a0. [DOI] [PubMed] [Google Scholar]
  14. Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Ostrer H., Goff S. C., Sexton J. P. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature. 1982 Dec 23;300(5894):768–769. doi: 10.1038/300768a0. [DOI] [PubMed] [Google Scholar]
  15. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  16. Traeger J., Wood W. G., Clegg J. B., Weatherall D. J. Defective synthesis of HbE is due to reduced levels of beta E mRNA. Nature. 1980 Dec 4;288(5790):497–499. doi: 10.1038/288497a0. [DOI] [PubMed] [Google Scholar]

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