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Nucleic Acids Research, 1983, Vol. 11, No. 22 7789-7794
© 1983

MOLECULAR BIOLOGY

A ß-thalassemia ledon abolishes the same Mst II site as the sickle mutation

Judy C. Chang, Antonio Alberti* and Yuet Wai Kan

Howard Hughes Medical Institute Laboratory and Division of Medical Genetics and Molecular Hematology of the Department of Medicine, University of California San Francisco, CA 94143, USA *Servizio di Ematologia, Ospedale Generale Regionale ‘A.Pugliese’, Catanzaro, Italy

Received September 6, 1983. Revised October 17, 1983. Accepted October 17, 1983.

Digestion of DNA from a patient with homozygous ß0 thalassemia from Calabria, Italy with the restriction endonuclease Mst II produced a pattern similar to the one obtained with sickle cell trait DNA in that the Mst II site at the ß6 position on one chromosome was abolished. We cloned the DNA from this ß-thalassemia chromosome and performed sequence analysis. The deletion of a single nucleotide (A) at the GAG codon of the ß0 position results in a frame shift and early ß0-globin chain termination. This mutation occurs on a chromosome with a haplotype similar to two otner Mediterranean ß thalassemia lesions. The Mst n enzyme is useful for prenatal diagnosis of B thalassemia in this population.


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