Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany

Blut. 1989 Sep;59(3):237-9. doi: 10.1007/BF00320854.

Abstract

DNA from Mediterranean and Asian beta-thalassemia patients, now residing in Germany, has been characterized by oligonucleotide hybridization and direct restriction analysis. Using five oligonucleotide pairs complementary to the most frequent beta-thalassemia mutations, and three different restriction enzymes, we were able to detect 33 of 36 mutations directly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Frequency
  • Globins / genetics*
  • Humans
  • Introns
  • Mediterranean Sea
  • Mutation
  • Oligonucleotide Probes
  • Pedigree
  • Thalassemia / diagnosis
  • Thalassemia / genetics*

Substances

  • Oligonucleotide Probes
  • Globins