Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis

Haemophilia. 2005 Mar;11(2):142-4. doi: 10.1111/j.1365-2516.2005.01071.x.

Abstract

We report the usefulness of a dinucleotide GT repeat in intron 1 of the factor 8 gene in carrier diagnosis of haemophilia A (HA). We analyzed 47 women from HA families in which the mutation was not identified in the index case and in which the common intragenic polymorphic markers were uninformative. The intron 1 GT repeat was useful to identify the X chromosome with the mutation in 19 of them. The analysis of this easily detectable marker in conjunction with other current markers may facilitate X chromosome identification in a large proportion of HA families.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, X / genetics
  • Dinucleotide Repeats / genetics*
  • Factor VIII / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Carrier Screening / methods
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Heterozygote
  • Humans
  • Inteins / genetics*

Substances

  • Factor VIII