A β-thalassemia ledon abolishes the sameMstII site as the sickle mutation
Open Access
- 1 January 1983
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 11 (22) , 7789-7794
- https://doi.org/10.1093/nar/11.22.7789
Abstract
Digestion of DNA from a patient with homozygous β0 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 β6 position on one chromosome was abolished. We cloned the DNA from this β-thalassemia chromosome and performed sequence analysis. The deletion of a single nucleotide (A) at the GAG codon of the β0 position results in a frame shift and early β0-globin chain termination. This mutation occurs on a chromosome with a haplotype similar to two otner Mediterranean β thalassemia lesions. The Mst n enzyme is useful for prenatal diagnosis of B thalassemia in this population.Keywords
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