Structure and expression of two β genes in a β thalassemia homozygote

K. Young, L. Margulies, M. Donovan-Peluso, J. Clyne, M. C. Driscoll, C. Dobkin, D. Leibowitz, G. Russo, G. Schiliro, A. Bank

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Two β globin gene alleles have been cloned and characterized from a patient with β+ thalassemia. Both β genes have single base mutations in the small intervening sequence (IVS 1); one 6 nucleotides and the other 110 nucleotides from the 5' end of IVS 1. Both genes lead to abnormal splicing of β globin mRNA precursors when expressed in HeLa cells. Despite the fact that both alleles produce some normal β globin mRNA transcripts, the patient has clinically severe β+ thalassemia (Cooley's anemia).

Original languageEnglish (US)
Pages (from-to)1-6
Number of pages6
JournalJournal of Molecular and Applied Genetics
Volume3
Issue number1
StatePublished - 1985

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Genetics
  • Molecular Biology

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