Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families

Hum Genet. 1985;71(2):134-7. doi: 10.1007/BF00283368.

Abstract

Analysis of alpha-thalassemia syndromes in several German families revealed DNA deletion as well as non-deletion forms as the molecular basis for the defects. Thus, the alpha-thalassemia haplotype was identified as the (-alpha)3.7 rightward deletion form, and the region of the putative recombination process generating such a deletion was further characterized. In addition three different alpha(0)-thalassemia haplotypes, (--)MED, (--) > 26, and (alpha alpha)T, could be detected using alpha- and zeta-globin gene-specific probes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Female
  • Genes
  • Genetic Variation*
  • Genotype
  • Germany, West
  • Globins / genetics*
  • Humans
  • Male
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA Restriction Enzymes