Use of restriction endonucleases for mapping the allele for beta s-globin

Proc Natl Acad Sci U S A. 1982 Jun;79(11):3628-31. doi: 10.1073/pnas.79.11.3628.

Abstract

We have reported the direct analysis of the allele for beta 2-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 distinguish the beta s allele from the normal beta-globin allele. Blot-hybridization analysis with restriction endonuclease Mst II shows the 5' end of the normal beta-globin gene to reside on a fragment of approximately 1.14 kilobases, whereas the 5' end of the beta s-globin gene resides on a fragment of approximately 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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amniotic Fluid / analysis
  • Anemia, Sickle Cell / diagnosis*
  • Anemia, Sickle Cell / genetics
  • Base Sequence
  • Chromosome Mapping
  • DNA Restriction Enzymes*
  • Globins / genetics*
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Thalassemia / genetics

Substances

  • Hemoglobin, Sickle
  • Globins
  • DNA Restriction Enzymes