Summary
Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the Gγ-globolin gene and its absence in the Aγ-globolin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.
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Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr (1982) Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 79:137–141
Baird M, Driscoll C, Schreiner H, Sciarratta GV, Sansone GN, Niazi G, Ramirez F, Bank A (1981) A nucleotide change at a splice junction in the human β-globin gene is associated with β°-thalassemia. Proc Natl Acad Sci USA 78:4218–4221
Chang JC, Kan YW (1982) A sensitive new prenatal test for sickle cell anemia. N Engl J Med 307:30–32
Flavell RA, Bernardo R (1979) The structure of the human β-globin gene in b-thalassemia. Nucleic Acids Res 6:2749–2760
Geever RF, Wilson LB, Nallaseth FS, Milner PF, Bitner M, Wilson JT (1981) Direct identification of sickle cell anemia by blot hybridization. Proc Natl Acad Sci USA 78:5081–5085
Jeffreys AJ (1979) DNA sequence variants in the Gγ-, Aγ-, δ and β-globin genes of man. Cell 18:1–10
Kan YM, 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
Kan Y, Lee KY, Furbetta M, Angius A, Cao A (1980) Polymorphism of DNA sequence in the β-globin gene region: Application to prenatal diagnosis of β°-thalassemia in Sardinia. N Engl J Med 302:185–188
Kohne E, Behnken LJ, Leupold D, Rogge H, Martin H, Kleihauer E (1979) Hemoglobin Presbyterian (β 108 (G 10) ASN→LYS) in a German family. Hemoglobin 3:365–370
Lawn RM, Efstratiadis A, O'Connell C, Maniatis T (1980) The nucleotide sequence of the human β-globin gene. Cell 21: 647–651
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
Moo-Penn WF, Wolff JA, Simon G, Vaćek M, Jue DL, Johnson MH (1978) Hemoglobin Presbyterian: β 108 (G 10) asparagine→lysine. A hemoglobin variant with low oxygen affinity. FEBS Lett 92: 53–56
Orkin SH, Old JM, Weatherall DJ, Nathan DG (1979) Partial deletion of β-globin gene DNA in certain patients with β°-thalassemia. Proc Natl Acad Sci USA 76:2400–2404
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SG, Boehm CO, Sexton JR, Waber PG, Giardina PJV (1982a) Linkage of β-thalassemia mutations and β-globin gene polymorphism with DNA polymorphisms in the human β-globin gene cluster. Nature 296:627–631
Orkin SH, Little PFR, Kazazian HH Jr, Boehm CD (1982b) Improved detection of sickle cell mutation by DNA analysis. Application to prenatal diagnosis. N Engl J Med 307:32–36
Phillips JA, Pawny SR, Kazazian HH Jr, Boehm CO, Scott AF, Smith KO (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
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–513
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
Wilson JT, Wilson JB, DeRiel JK, Villa-Komaroff L, Efstratiadis A, Forget BG, Weissman SM (1978) Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res 5:503–517
Wilson JT, Milner PF, Summer ME, Nallaseth FS, Fadel HE, Reindollar RH, McDonough PG, Wilson LB (1982) Use of restriction endonucleases for mapping the allele for βS-globulin. Proc Natl Acad Sci USA 79:3628–3631
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Horst, J., Oehme, R., Kleihauer, E. et al. DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene. Hum Genet 64, 263–266 (1983). https://doi.org/10.1007/BF00279406
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DOI: https://doi.org/10.1007/BF00279406