False non-paternity in a family for prenatal diagnosis of beta-thalassaemia

Prenat Diagn. 1993 Oct;13(10):977-82. doi: 10.1002/pd.1970131012.

Abstract

Initial screening for the common beta-thalassaemia mutations with allele-specific oligonucleotide probes in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR-amplified beta gene, was a codon 43 nonsense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non-reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non-paternity. Since prior screening for beta-thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this 'artefact' of false non-paternity is worth noting.

Publication types

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

MeSH terms

  • Adult
  • Amniocentesis*
  • Codon / genetics
  • DNA Fingerprinting
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Frameshift Mutation
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Paternity*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics

Substances

  • Codon