Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Polymorphism of the Hinf I restriction site located 1 Kb 5′ to the human β-globin gene

  • 35 Accesses

  • 4 Citations


Mapping of the DNA from 14 Mediterranean subjects indicates a genetic variation in an Hinf I recognition site located 1 kilobase 5′ to the β-globin gene. This Hinf I site was found associated with eight β-thalassemic genes and 11 normal β genes, and hence is not specifically linked to β-thalassemia.

This is a preview of subscription content, log in to check access.


  1. Antonarakis SE, Boehm CD, Giardina PJ, Kazazian HH Jr (1982) Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 79:137–141

  2. Belhani M, Morle F, Colonna P, Godet J (1980) Heterogeneity in β0-thalassemia from Algeria: Genetic, clinical and molecular studies. Hum Genet 54:251–257

  3. Driscoll CM, Baird M, Bank A, Rachmilewitz EA (1981) A new polymorphism in the human β-globin gene useful in antenatal diagnosis. J Clin Invest 68:915–919

  4. Gorski J, Fiori M, Mach B (1982) A new nonsense mutation as the molecular basis for β0-thalassemia. J Mol Biol 154:537–540

  5. Henni T, Morle L, Alloisio N (1981) Association of the sickle hemoglobin mutation with the variant 13 kb Hpa I DNA fragment in the Algerian population. Biomedicine 35:75–76

  6. Jeffreys AJ (1979) DNA sequence variants in the Gγ-Aγ-δ and β globin genes of man. Cell 18:1–10

  7. Jeffreys AJ, Flavell RA (1977) A physical map of the DNA regions flanking the rabbit globin gene. Cell 12:428–439

  8. Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631–5635

  9. Kan YW, Lee KY, Furbetta M, Angius A, Cao A (1980) Polymorphism of DNA sequence in the β-globin gene region: Application to prenatal diagnosis of β0-thalassemia in Sardinia. N Engl J Med 302: 185–188

  10. Kohen G (1981) Analyse structurale des gènes de globines humaines γ-δ-β chez les sujets normaux et β-thalassémiques. Thèse de 3ème Cycle, Lyon.

  11. Lawn RM, Efstratiadis A, O'Connell C, Maniatis T (1980) The nucleotide sequence of the human β-globin gene. Cell 21:647–651

  12. Little PFR, Annison G, Darling S, Williamson R, Camba L, Modell B (1980) Model for antenatal diagnosis of β-thalassemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms. Nature 285:144–147

  13. Moschonas N, De Boer E, Flavell RA (1982) The DNA sequence of the 5′ flanking region of the human β-globin gene: evolutionary conservation and polymorphic differences. Nucleic Acids Res 10: 2109–2120

  14. Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PC, Giardina PJV (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296:627–631

  15. Phillips JA, Panny SR, Kazazian HH Jr, Boehm CD, Scott AF, Smith KD (1980) Prenatal diagnosis of sickle cell anemia by restriction endonuclease analysis: Hind III polymorphisms in γ-globin genes extend test applicability. Proc Natl Acad Sci USA 77:2853–2856

  16. Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

  17. Spritz AR, De Riel JK, Forget BG, Weissman SM (1980) Complete nucleotide sequence of the human δ-globin gene. Cell 21:639–646

  18. Tuan D, Biro PA, De Riel JK, Lazarus H, Forget BG (1979) Restriction endonuclease mapping of the human γ-globin gene loci. Nucleic Acids Res 6:2519–2544

  19. Whitelaw E, Pagnier J, Verdier G, Henni T, Godet J, Williamson R (1980) Mapping of the α-globin genes in an Algerian HbH patient and his family. Blood 55:511–516

Download references

Author information

Correspondence to Gila Kohen.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kohen, G., Philippe, N. & Godet, J. Polymorphism of the Hinf I restriction site located 1 Kb 5′ to the human β-globin gene. Hum Genet 62, 121–123 (1982). https://doi.org/10.1007/BF00282298

Download citation


  • Internal Medicine
  • Genetic Variation
  • Metabolic Disease
  • Restriction Site
  • Recognition Site