A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions

Prenat Diagn. 1992 Nov;12(11):903-8. doi: 10.1002/pd.1970121109.

Abstract

This study describes three couples at risk for homozygous beta-thalassaemia in which one of the partners carried a short deletion beta-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect beta-thalassaemia mutations due to deletion or addition of more than two nucleotides.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / isolation & purification
  • Electrophoresis, Polyacrylamide Gel / methods*
  • Female
  • Globins / genetics
  • Humans
  • Immunoblotting
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Prenatal Diagnosis*
  • Sequence Analysis, DNA
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • DNA