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. 1986 Apr;23(2):145–150. doi: 10.1136/jmg.23.2.145

A new epsilon globin HincII variant fragment length in a South African Negroid family.

M Ramsay, J A Thomson, T Jenkins
PMCID: PMC1049568  PMID: 3012088

Abstract

A new HincII epsilon globin variant is reported in a South African Negroid family. The usual HincII epsilon globin fragment lengths are 8.0 and 3.7 kb and the variant described here is 14.0 kb in length. The 14.0 kb fragment was generated by a site alteration removing the 3' HincII site on a chromosome that already lacked the 5' HincII site. It appears that there are differences among races with regard to the frequencies of the 8.0 and 3.7 kb alleles. The 3.7 kb allele is the more common form in Caucasoids whereas the 8.0 kb allele occurs in the majority of Negroid and Khoisan subjects.

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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., 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]
  3. 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]
  4. 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]
  5. Coulondre C., Miller J. H., Farabaugh P. J., Gilbert W. Molecular basis of base substitution hotspots in Escherichia coli. Nature. 1978 Aug 24;274(5673):775–780. doi: 10.1038/274775a0. [DOI] [PubMed] [Google Scholar]
  6. Fritsch E. F., Lawn R. M., Maniatis T. Molecular cloning and characterization of the human beta-like globin gene cluster. Cell. 1980 Apr;19(4):959–972. doi: 10.1016/0092-8674(80)90087-2. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Old J. M., Wainscoat J. S. A new DNA polymorphism in the beta-globin gene cluster can be used for antenatal diagnosis of beta-thalassaemia. Br J Haematol. 1983 Feb;53(2):337–341. doi: 10.1111/j.1365-2141.1983.tb02028.x. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. Pagnier J., Mears J. G., Dunda-Belkhodja O., Schaefer-Rego K. E., Beldjord C., Nagel R. L., Labie D. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771–1773. doi: 10.1073/pnas.81.6.1771. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  12. 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]
  13. Trent R. J., Bowden D. K., Old J. M., Wainscoat J. S., Clegg J. B., Weatherall D. J. A novel rearrangement of the human beta-like globin gene cluster. Nucleic Acids Res. 1981 Dec 21;9(24):6723–6733. doi: 10.1093/nar/9.24.6723. [DOI] [PMC free article] [PubMed] [Google Scholar]

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