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Hemoglobin
international journal for hemoglobin research
Volume 10, 1986 - Issue 5
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Original Article

The Thalassemia Repository

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Pages 533-558 | Published online: 07 Jul 2009

References

  • Spritz R. A., Orkin S. H. Duplication followed by deletion accounts for the structure of an Indian deletion β°-thalassemia gene. Nucleic Acids Res. 1982; 10: 8025
  • Flavell R. A., Bernards B., Kooter J. M., de Boer E., Little P. F.R., Annison G., Williamson R. The structure of the human β-globin gene in β-thalassaemia. Nucleic Acids Res. 1979; 8: 2749
  • Thein S. L., Old J. M., Wainscoat J. S., Petrou M., Modell B., Weatherall D. J. Population and genetic studies suggest a single origin for the Indian deletion β° thalassaemia. Br. J. Haematol. 1984; 57: 271
  • Orkin S. H., Old J. M., Weatherall D. J., Nathan D. G. Partial deletion of β-globin gene DNA in certain patients with β°-thalassemia. Proc. Natl. Acad. Sci. USA 1979; 76: 2400
  • Orkin S. H., Kolodner R., Michelson A., Husson R. Cloning and direct examination of a structurally abnormal human β°-thalassemia globin gene. Proc. Natl. Acad. Sci. USA 1980; 77: 3558
  • Padanilam B. J., Fellice A. E., Huisman T. H.J. Partial deletion of the 5′ β-globin gene region causes β°-thalassemia in members of an American Black family. Blood 1984; 64: 941
  • Gilman J. G., Huisman T. H.J., Abels J. Dutch β°-thalassaemia: a 10 kilobase DNA deletion associated with significant γ-chain production. Br. J. Haematol. 1984; 56: 339
  • Gilman J. G., Abraham J. The Dutch β°-thalassemia; a reevaluation. Fed. Proc. 1986; 45: 1623, abstract
  • Kazazian H. H., Jr, Orkin S. H., Boehm C. D., Sexton J. P., Antonarakis S. E. β-Thalassemia due to a deletion of the nucleotide which is substituted in the βS-globin gene. Am. J. Hum. Genet. 1983; 35: 1028
  • Chang J. C., Alberti A., Kan Y. W. A β-thalassemia lesion abolishes the same Mst II sites as the sickle mutation. Nucleic Acids Res. 1983; 11: 7789
  • Orkin S. H., Goff S. C. Nonsense and frameshift mutations in β°—thalassemia detected in cloned β-globin genes. J. Mol. Biol. 1981; 256: 9782
  • 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.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627
  • Kazazian H. H., Jr, Orkin S. H., Markham A. F., Chapman C. R., Youssoufian H, Waber P. G. Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations on Mediterraneans. Nature 1984; 310: 152
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Chang J. Y., Kan Y. W. β° Thalassemia, a nonsense mutation in man. Proc. Natl. Acad. Sci. USA 1979; 76: 2886
  • Boehm C. D., Dowling C. E., Waber P. G., Giardina P. J.V., Kazazian H. H., Jr. Use of oligonucleotide hybridization in the characterization of a β°-thalassemia gene (β37 TGG→TGA) in a Saudi Arabian family. Blood 1986; 67: 1185
  • Trecartin R. F., Liebhaber S. A., Chang J. C., Lee K. Y., Kan Y. W., Furbetta M., Angius A., Cao A. β° Thalassemia in Sardinia is caused by a nonsense mutation. J. Clin. Invest. 1981; 68: 1012
  • Moschonas N., de Boer E., Grosveld F. G., Dahl H. H.M., Wright S., Shemaker C. K., Flavell R. A. Structure and expression of a cloned β° thalassemic globin gene. Nucleic Acids Res. 1982; 9: 4391
  • Thein S. L., Wainscoat J. S., Lynch J. R., Weatherall D. J., Sampietro M, Fiorelli G. Direct detection of β°39 thalassaemic mutation with Mae I. The Lancet 1985; 1: 1095
  • Orkin S. H., Goff S. C. Nonsense and frameshift mutations in β°-thalassemia detected in cloned β-globin genes. J. Biol. Chem. 1981; 256: 9782
  • Pirastru M., Kan Y. W., Cao A., Conner B. J., Teplitz R. L., Wallace R. B. Prenatal diagnosis of β-thalassemia—Detection of a single nucleotide mutation in DNA. N. Engl. J. Med. 1983; 309: 284
  • Pergolizzi R., Spritz R. A., Spence S., Goossens M., Kan Y. W., Bank A. Two cloned β-thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res. 1981; 9: 7065
  • Gorski J., Fiori M., Mach B. A new nonsense mutation as the molecular basis of β°-thalassemia. J. Mol. Biol. 1982; 154: 537
  • Hattori Y., Kutlar F., Chen S. S., Huisman T. H.J., Demuro P., Formato M., Manca L., Masala B. DNA polymorphisms in North Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with β°-thalassemia. Biochem. Genet. 1986, in press
  • Kimura A., Matsunaga E., Takihara Y., Nakamura T., Takagi Y. Structural analysis of a B-thalassemia gene found in Taiwan. J. Biol. Chem. 1983; 258: 2748
  • Kinniburgh K. J., Maquat L. E., Schedl T., Rachmilewitz E., Ross J. mRNA-deficient β°—thalassemia results from a single nucleotide deletion. Nucleic Acids Res. 1982; 10: 5421
  • Cheng T-C., Orkin S. H., Antonarakis S. E., Potter M. J., Sexton J. P., Markham A. F., Giardina P. J.V., Li A., Kazazian H. H., Jr. β-Thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc. Natl. Acad. Sci. USA 1984; 81: 2821
  • Orkin S. H., Antonarakis S. E., Kazazian H. H., Jr. Base substitution at poisition -88 on a β-thalassemia globin gene. Further guidance for the role of distal promotor element ACACCC. J. Biol. Chem. 1984; 259: 8679
  • 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.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627
  • Treisman R., Orkin S. H., Maniatis T. Specific transcription and RNA splicing defected in five cloned β-thalassaemia genes. Nature 1983; 302: 591
  • Antonarakis S. E., Orkin S. H., Cheng T-C., Scott A. F., Sexton J. P., Trusko S. P., Charache S., Kazazian H. H., Jr. β-Thalassemia in American Blacks: Novel mutations in the “TATA” box and an acceptor splice site. Proc. Natl. Acad. Sci, USA 1984; 81: 1154
  • Poncz M., Ballantine M., Solowiejctyk D., Barak I., Schwartz E., Surrey S. β-Thalassemia in a Kurdish Jew. J. Biol. Chem. 1982; 257: 5994
  • Orkin S. H., Sexton J. P., Cheng T-C., Goff S. C., Giardina P. J.V., Lee J. I., Kazazian H. H., Jr. ATA box transcription mutation in β-thalassemia. Nucleic Acids Res. 1983; 11: 4727
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Cheng T-C., Orkin S. H., Antonarakis S. E., Potter M. J., Sexton J. P., Markham A. F., Giardina P. J.V., Li A., Kazazian H. H., Jr. β-Thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc. Natl. Acad. Sci. USA 1984; 81: 2821
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. O., Goff S. C., Waber P. G. Molecular characterization of seven B-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Treisman R., Orkin S. H., Maniatis T. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 1983; 302: 591
  • Orkin S. H., Kazaziam H. H., Jr, Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 294: 627
  • Kazazian H. H., Jr, Orkin S. H., Markham A. F., Chapman C. R., Youssoufian H., Waber P. G. Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations on Mediterraneans. Nature 1984; 310: 152
  • Gilman J. G., Huisman T. H.J., Stojanovski N., Efremov G. D. Characterization of the β+-thalassemia mutation in a homozygous Yugoslavian patient. Hemoglobin 1984; 8: 529
  • Orkin S. H., Sexton J. P., Goff S. C., Kazazian H. H., Jr. Inactivation of an acceptor RNA splice site by a short deletion in β-thalassemia. J. Biol. Chem. 1983; 258: 7249
  • Kazazian H. H., Jr, Orkin S. H., Antonarakis S. E., Sexton J. P., Boehm C. D., Goff S. C., Waber P. G. Molecular characterization of seven B-thalassemia mutations in Asian Indians. EMBO J. 1984; 3: 593
  • Busslinger M., Moschonas N., Flavell R. A. β+-Thalassemia: Aberrant splicing results from a single point mutation in an intron. Cell 1981; 27: 289
  • Spritz R. A., Jagadeeswaran P., Choudary P. V., Biro P. A., Elder J. T., deRiel J. K., Manley J. L., Gefters M. L., Forget B. G., Weissman S. M. Base substitution in an intervening sequence of a β+-thalassemic human globin gene. Proc. Natl. Acad. Sci. USA 1981; 78: 2455
  • Orkin S. H., Markham A. F., Kazazian H. H., Jr. Direct detection of the common Mediterranean β-thalassemia gene with synthetic DNA probes—An alternative approach for prenatal diagnosis. J. Clin. Invest. 1983; 71: 775
  • Westaway D., Williamson R. An intron nucleotide sequence variant in a cloned β+-thalassemia globin gene. Nucleic Acids Res. 1981; 9: 1777
  • Feingold E. A., Collins F. S., Metherall J. E., Stoeckert C. J., Jr, Weissman S. M., Forget B. G. Molecular analysis of deletion and nondeletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing β-thalassemia. Ann. N.Y. Acad. Sci. 1985; 445: 159
  • Goldsmith M. E., Humphries R. K., Ley T., Cline A., Kantor J. A., Nienhuis A. W. “Silent” nucleotide substitution in a β+-thalassemia globin gene activates splice site in coding sequence RNA. Proc. Natl. Acad. Sci. USA 1983; 80: 2318
  • 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 βE-globin gene in Southeast Asia. Proc. Natl. Acad. Sci. USA 1982; 79: 6608
  • Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Ostrer H., Goff S. C., Sexton J. P. Abnormal RNA processing due to an exon mutation of βE-globin gene. Nature 1982; 300: 768
  • Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Ostrer H., Goff S. C., Sexton J. P. Abnormal RNA processing due to the coding region mutation of the EE globin gene. Blood 1982; 60: 56a, abstract
  • Humphries R. K., Ley T. J., Goldsmith M. E., Cline A., Kantor J. A., Nienhuis A. W. Silent nucleotide substitution in β+ thalassemia gene activates a cryptic splice site in β globin RNA coding sequence. Blood 1982; 60: 54a, (abstract)
  • Nakatsuji T., Kutlar A., Kutlar F., Huisman T. H.J. Haplotypes among Vietnamese Hemoglobin E homozygotes including one with a Y globin gene triplication. Am. J. Hum. Genet. 1986, in press
  • Arous N., Galacteros F., Fessas Ph., Loukopoulos D., Blouquit Y., Komis G., Sellaye M., Boussiou M., Rosa J. Hemoglobin Knossos, β 27 Ala→Ser presenting as a silent β-thalassemial. FEES Lett. 1983; 147: 247
  • Fessas Ph., Loukopoulos D., Loutradi-Anagnostou A., Komis G. ‘Silent’ β-thalassaemia caused by a ‘silent’ β-chain mutant: The pathogenesis of a syndrome of thalassaemia intermedia. Br. J. Haematol. 1982; 51: 577
  • Orkin S. H., Antonarakis S. E., Loukopoulos D. Abnormal processing of β Knossos RNA. Blood 1984; 64: 311
  • Treisman R., Proudfoot N. J., Shander M., Maniatis M. A single-base change at a splice site in a β°-thalassemic gene causes abnormal RNA splicing. Cell 1982; 29: 903
  • Orkin S. H., Karazian H. H., Jr, Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627
  • Baird M., Driscoll C., Schreiner H., Sciarratta G. V., Sansone G., Niazi G., Ramirez F., Bank A. A nucleo-tide change at a splice junction in the human β-globin gene is associated with β°-thalassemia. Proc. Natl. Acad. Sci. USA 1981; 78: 4218
  • Fritsch E. F., Lawn R. M., Maniatis T. Molecular cloning and characterization of the human β-like globin gene cluster. Cell 1980; 19: 959
  • Spence S. E., Pergolizzi R., Donovan-Peluso M., Bank A. A change in the large intervening sequence of a β-globin gene associated with β+-thalassemia. Blood 1981; 58(Suppl. 1)51a
  • Cheng T-C., Orkin S. H., Antonarakis S. E., Potter M. J., Sexton J. P., Markham A. F., Giardina P. J.V., Li A., Kazazian H. H., Jr. β-Thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc. Natl. Acad. Sci. USA 1984; 81: 2821
  • Spence S. E., Pergolizzi R. G., Donovan-Peluso M., Kosche K. A., Dobkin C. S., Bank A. Five nucleotide changes in the large intervening sequence of a β globin gene in a β+thalassemia patient. Nucleic Acids Res. 1982; 10: 1283
  • Dobkin C., Pergolizzi R. G., Bohre P., Bank A. Abnormal splice in a mutant human B globin gene not at the site of mutation. Proc. Natl. Acad. Sci. USA 1983; 80: 1184
  • 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.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphism with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627
  • Atweh G. F., Anagnou N. P., Shearin J., Forget B. G., Kaufman R. E. β-Thalassemia resulting from a single nucleo-tide substitution in an acceptor splice site. Nucleic Acids Res. 1985; 113: 770
  • Antonarakis S. E., Orkin S. H., Cheng T-C., Scott A. F., Sexton Trusko J. P.S.P., Charache S., Kazazian H. H., Jr. β-Thalassemia in American Blacks: Novel mutations in the ‘TATA’ box and an acceptor splice site. Proc. Natl. Acad. Sci. USA 1985; 81: 1154
  • Padanilam B. J., Huisman T. H.J. The β°-thalassemia in an American Black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence. Am. J. Hematol. 1986; 22: 259
  • Orkin S. H., Cheng T., Cheng T-C., Antonarakis S. E., Kazazian H. H., Jr. Thalassemia due to a mutation in the cleavage-poly-adenylation signal of the human B-globin gene. EMBO J. 1985; 4: 453
  • Sementa G. L., Delgrosso K., Poncz M., Malladi P., Schwartz E., Surrey S. The silent carrier allele: β-Thalassemia without a mutation on the β-globin gene or its immediate flanking regions. Cell 1984; 39: 123

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