Use of restriction endonucleases for mapping the allele for β(s)-globin

We have reported the direct analysis of the allele for β(s)-globin by using restriction endonuclease Dde I coupled with blot-hybridization analysis. In that report we predicted that a major use of our analysis could be for the prenatal diagnosis of sickle cell anemia. Here we present such an analysis. In addition, this report also describes the use of a new enzyme Mst II, which also can distinguish the β(s) allele from the normal β-globin allele. Blot-hybridization analysis with restriction endonuclease Mst II shows the 5' end of the normal β-globin gene to reside on a fragment of ≃ 1.14 kilobases, whereas the 5' end of the β(s)-globin gene resides on a fragment of ≃ 1.34 kilobases. Because the fragment sizes generated by Mst II are significantly larger than those generated by Dde I, one can easily perform a prenatal diagnosis for sickle cell by standard blot hybridizations onto nitrocellulose filters.