Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay

Int J Clin Lab Res. 1996;26(2):136-9. doi: 10.1007/BF02592357.

Abstract

We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common beta-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of beta-thalassemia patients and at risk couples.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • DNA / analysis*
  • Globins / genetics
  • Humans
  • Immunoenzyme Techniques*
  • Italy
  • Mass Screening / methods
  • Microchemistry
  • Mutation
  • Polymerase Chain Reaction / methods*
  • Sensitivity and Specificity
  • Titrimetry
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • DNA