A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation

Nucleic Acids Res. 1983 Nov 25;11(22):7789-94. doi: 10.1093/nar/11.22.7789.

Abstract

Digestion of DNA from a patient with homozygous beta zero 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 beta 6 position on one chromosome was abolished. We cloned the DNA from this beta-thalassemia chromosome and performed sequence analysis. The deletion of a single nucleotide (A) at the GAG codon of the beta 6 position results in a frame shift and early beta-globin chain termination. This mutation occurs on a chromosome with a haplotype similar to two other Mediterranean beta-thalassemia lesions. The Mst II enzyme is useful for prenatal diagnosis of beta thalassemia in this population.

Publication types

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

MeSH terms

  • Base Sequence
  • DNA / analysis*
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific*
  • Genes
  • Globins / genetics*
  • Hemoglobin, Sickle / genetics*
  • Homozygote
  • Humans
  • Mutation*
  • Nucleic Acid Hybridization
  • Thalassemia / genetics*

Substances

  • Hemoglobin, Sickle
  • Globins
  • DNA
  • DNA Restriction Enzymes
  • endodeoxyribonuclease MstII
  • Deoxyribonucleases, Type II Site-Specific