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Nucleic Acids Research, 1985, Vol. 13, No. 3 777-790
© 1985

Articles

ß-Thalassemia resulting from a single nucleotide substitution in an acceptor splice site

George F. Atweh, Nicholas P. Anagnou1, Jean Shearin, Bernard G. Forget2 and Russel E. Kaufman*

Division Hematology-Oncology and Section Genetics, Dept. Medicine, Duke University Medical Center Durham, NC 27710 1Clinical Hematology Branch, Heart, Lung and Blood Institute, Nat. Inst. Health Bethesda, MD 20205 2Hematology Section, Dept. Medicine, Yale University School of Medicine New Haven, CT 06520, USA

*To whom correspondence should be addressed

Received November 13, 1984. Accepted January 4, 1985.

ß-globin gene mutations which alter normal globin RNA splicing have confirmed the necessity of invariant nucleotides GT at donor splice sites. Functional consequences of point mutations in the invariant AG acceptor splice site have not been determined. We have isolated and characterized a ß-globin gene from a Black patient with ß-thalassemia intermedla which has an A->G transition at the usual intervening sequence 2 (IVS2) acceptor splice site. Functional analysis of transcripts produced by this mutant gene in a transient expression vector indicates that the mutation inactivates the normal acceptor splice site and results in some utilization of a cryptic splice site near position 580 of IVS2. This mutation would be expected to produce a ß-globin gene which results in no normal ß-globin mRNA.


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