Identification of a new CA dinucleotide repeat in the human factor VIII gene

Br J Haematol. 2000 Dec;111(4):1256-9. doi: 10.1046/j.1365-2141.2000.02490.x.

Abstract

We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12-14 repetitions [(CA)(12-14)]. The frequencies were 0.5% and 0% for (CA)(12), 99% and 95.8% for (CA)(13), and 0.5% and 4.2% for (CA)(14) in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Case-Control Studies
  • China
  • Dinucleotide Repeats*
  • Factor VIII / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Markers
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Polymerase Chain Reaction

Substances

  • Genetic Markers
  • Factor VIII