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Nucleic Acids Research, 1981, Vol. 9, No. 24 7065-7072
© 1981

MOLECULAR BIOLOGY

Two cloned ß thalassemia genes are associated with amber mutations at codon 39

Robert Pergolizzi, Richard A. Spritz*, Sally Spence, Michel Goossens+, Yuet Wai Kan{dagger} and Arthur Bank

Columbia University, Department of Medicine, and Department of Human Genetics and Development, Hammer Health Sciences Center Room 1602, 701 West 168th Street, New York, NY 10032, USA

Received September 1, 1981.

Two ß globin genes from patients with the ß+ thalassemia phenotype have been cloned and sequenced. A single nucleotide change from CAG to TAG (an amber mutation) at codon 39 is the only difference from normal in both genes analyzed. The results are consistent with the assumption that both patients are doubly heterozygous for ß+ and ß° thalassemia, and that we have isolated and analyzed the ß° thalassemia gene.

*University of Wisconsin, Department of Medical Genetics, Madison, WI 53706, USA

+Hospitale Henri Mondor, Department of Biochemistry, Creteil, France

{dagger}University of California, Howard Hughes Institute, San Francisco, CA 94143, USA


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