A nucleotide change at a splice junction in the human β-globin gene is associated with β 0-thalassemia

M. Baird, C. Driscoll, H. Schreiner, G. V. Sciarratta, G. Sansone, G. Niazi, F. Ramirez, A. Bank

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80 Scopus citations


β 0-thalassemia is a heterogeneous group of disorders associated with absence of β-globin. In a survey of DNAs from patients with β 0-thalassemia of diverse ethnic origins, a change at the splice junction at the 5' end ot the large intervening sequence (IVS 2) of the human β-globin gene has been found in one patient of Italian and another two of Iranian ethnic origins. The enzyme Hph I recognizes a change at this site and generates a larger-than-normal fragment of DNA, which hybridizes specifically to a β-globin IVS 2 probe. No other changes in β-globin gene DNA structure or organization are detectable by extensive restriction endonuclease analysis. The enzyme HinfI which recognizes a sequence beginning three nucleotides from the 5' end of the IVS 2 splice junction, produces normal fragments and localizes the defect to a G-G-T sequence at the 5'-end IVS 2 splice junction. This sequence is known to be remarkably conserved in all globin genes from many species and in most other genes examined to date. Thus, in at least some β 0-thalassemia patients, the β 0-thalassemia defect is associated with a nucleotide change at a splice junction. These patients provide unique examples of naturally occurring defects in splice junctions of eukaryotic genes associated with absence of specific gene function.

Original languageEnglish (US)
Pages (from-to)4218-4221
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number7 I
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • General


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