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Nucleic Acids Research, 1982, Vol. 10, No. 18 5421-5427
© 1982

MOLECULAR BIOLOGY

mRNA-deficint ß°-thaladssemia results from a single nucleotide deletion

Alan J. Kinniburgh*, Lynne E. Maquat*, Timothy Schedl, Eliezer Rachmilewitz1 and Jeffrey Ross{dagger}

McArdle Laboratory for Cancer Research, University of Wisconsin Randall Avenue, Madison, WI 53706, USA 1Department of Hematology, Hadassah University Hospital Mount Scopus, Jerusalem, Israel

{dagger}To whom reprint requests should be addressed

Received June 24, 1982. Revised August 18, 1982. Accepted August 18, 1982.

The ß-globin gene of a patient with mRNA-deficient ß°-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the ß-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.

*Present address: Department of Human Genetics, Roswell Park Memorial Institute New York State Department of Health, 666 Elm Street, Buffalo, NY 14263, USA


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