Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron

Hum Genet. 1989 Mar;81(4):371-2. doi: 10.1007/BF00283694.

Abstract

Thalassemia major is a rare disorder in the German population. We describe here the characterization of the beta-globin genes of a German patient homozygous for beta-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the beta-globin gene on both chromosomes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Genes*
  • Germany, West
  • Globins / genetics*
  • Homozygote
  • Humans
  • Introns
  • Male
  • Pedigree
  • Thalassemia / genetics*

Substances

  • Globins