The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed

Hum Genet. 1994 Jan;93(1):77-8. doi: 10.1007/BF00218918.

Abstract

We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convincing evidence that this mutation is a simple polymorphism.

Publication types

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

MeSH terms

  • Adult
  • Codon*
  • Cytosine*
  • Female
  • Globins / genetics*
  • Humans
  • Male
  • Point Mutation*
  • Polymorphism, Genetic
  • Protein Biosynthesis
  • Terminator Regions, Genetic
  • Thymidine*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Cytosine
  • Globins
  • Thymidine