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
Google Scholar
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
Google Scholar
Chang JC, Kan YW (1982) A sensitive new prenatal test for sickle cell anemia. N Engl J Med 307:30–32
Google Scholar
Flavell RA, Bernardo R (1979) The structure of the human β-globin gene in b-thalassemia. Nucleic Acids Res 6:2749–2760
Google Scholar
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
Google Scholar
Jeffreys AJ (1979) DNA sequence variants in the Gγ-, Aγ-, δ and β-globin genes of man. Cell 18:1–10
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar
Lawn RM, Efstratiadis A, O'Connell C, Maniatis T (1980) The nucleotide sequence of the human β-globin gene. Cell 21: 647–651
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–513
Google Scholar
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
Google Scholar
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
Google Scholar
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
Google Scholar