Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A

Br J Haematol. 1994 Nov;88(3):613-4. doi: 10.1111/j.1365-2141.1994.tb05081.x.

Abstract

A mother of two haemophilia A sons presented at 7 weeks pregnancy for a prenatal diagnosis. Southern blot analysis of haemophilia DNA at the factor VIII intron 22 Xba I restriction fragment length polymorphism (RFLP) site revealed an Xba I haplotype of A-B+C-. This haplotype has been alluded to but not reported before, and when a 1.6 kb Bst XI fragment of p482.6 is used as a probe the resulting band pattern is similar to that of females heterozygous at site A.

MeSH terms

  • DNA / analysis
  • Deoxyribonucleases, Type II Site-Specific
  • Diagnostic Errors*
  • Factor VII
  • Female
  • Fetal Diseases / diagnosis*
  • Hemophilia A / diagnosis*
  • Humans
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • Factor VII
  • DNA
  • endodeoxyribonuclease XBAI
  • Deoxyribonucleases, Type II Site-Specific