Carrier detection of ovine hemophilia A using an RFLP marker, and mapping of the factor VIII gene on the ovine X-chromosome

J Hered. 1994 Nov-Dec;85(6):474-8. doi: 10.1093/oxfordjournals.jhered.a111503.

Abstract

Ovine hemophilia A is an X-linked recessive bleeding disorder. For diagnostic purposes, restriction fragment length polymorphism (RFLP) analysis in the region of the factor VIII (F-VIII) gene was carried out using human F-VIII gene probes. The probe St14, known to detect a highly polymorphic region that is closely linked to the F-VIII gene in humans, hybridized nonspecifically with DNA from sheep. Searching for intragenic RFLPs, the entire 9.0-kb coding sequence of the human F-VIII was used as a probe. Using the 1.8-kb SstI/KpnI F-VIII cDNA probe for hybridization, an MspI-RFLP with allelic bands of 5.8 kb (A1) and 4.2 kb (A2) was detected. A1 was in linkage phase with the mutated allele responsible for hemophilia A. The F-VIII locus in the sheep genome was assigned to the long arm of the X-chromosome in the region Xq24-q33, using in situ hybridization with a 3-kb human F-VIII cDNA probe to QFQ banded sheep metaphase chromosomes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Southern
  • Chromosome Mapping / veterinary*
  • DNA Probes
  • Factor VIII / genetics*
  • Female
  • Genetic Carrier Screening*
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics
  • Hemophilia A / veterinary*
  • Humans
  • In Situ Hybridization
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Sheep
  • Sheep Diseases / diagnosis
  • Sheep Diseases / genetics*
  • X Chromosome*

Substances

  • DNA Probes
  • Factor VIII