A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A

Nucleic Acids Res. 1986 Jun 11;14(11):4535-42. doi: 10.1093/nar/14.11.4535.


A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in intron 22 of the gene. Two alleles occur in a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BclI RFLP in the factor VIII gene are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease.

MeSH terms

  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Factor VIII / genetics*
  • Gene Frequency
  • Genetic Carrier Screening*
  • Genetic Linkage
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics
  • Humans
  • Pedigree
  • Polymorphism, Genetic
  • Prenatal Diagnosis


  • Factor VIII
  • DNA Restriction Enzymes