title: Carrier detection of ovine hemophilia A using an RFLP marker, and mapping of the factor VIII gene on the ovine X-chromosome.
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.
authors.affiliation: Department of Animal Science, Swiss Federal Institute of Technology (ETH), Zürich.
authors.forename: W
authors.initials: W
authors.lastname: Backfisch
authors.forename: S
authors.initials: S
authors.lastname: Neuenschwander
authors.forename: U
authors.initials: U
authors.lastname: Giger
authors.forename: G
authors.initials: G
authors.lastname: Stranzinger
authors.forename: V
authors.initials: V
authors.lastname: Pliska
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D002874:Chromosome Mapping / Q000662:veterinary*; D015342:DNA Probes; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012756:Sheep; D012757:Sheep Diseases / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005169:Factor VIII