Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia

J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.

Abstract

In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia trait. Extensive studies of the polymorphic sites within the beta globin gene cluster in all the members of the family resulted in the conclusion that the paternal chromosome 11 of the newborn was different from that expected. Paternity was confirmed by HLA typing and blood group studies. The analysis of another polymorphic locus on chromosome 11 within the family was in agreement with the possibility of a crossing over between the two paternal chromosomes in a region 5' to the beta gene, previously indicated to contain a 'hot spot' area for recombination. This report underlines the risk of performing prenatal diagnosis using restriction polymorphisms 5' to the beta gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnostic Errors
  • Female
  • Genetic Linkage
  • Globins / genetics*
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Meiosis
  • Multigene Family
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis
  • Recombination, Genetic
  • Thalassemia / diagnosis*
  • Thalassemia / genetics

Substances

  • Globins