title: Factor XI mutation in a Holstein cow with repeat breeding in Japan.
abstract: Factor XI deficiency is an autosomal recessive coagulopathy in Holstein cattle. Affected cows have a tendency to show repeat breeding. Forty repeat breeding Holstein Friesian cows were selected and tested for the Factor XI mutation. Genomic DNA was isolated from the blood of the cows (n=40). Exon 12 of the Factor XI gene of the cows was amplified by PCR. One repeat breeding cow was heterozygous to the Factor XI mutation as indicated by the presence of two DNA fragments of 320 bp and 244 bp. The insertion of the 76 bp in the heterozygous cow was confirmed by DNA sequencing. The heterozygous cow was in her fourth lactation. She gave birth to male twins at the last calving. She was inseminated artificially four times after the last calving. Factor XI deficiency in cattle has been reported in different countries. However, no case was reported in Japan. This might be the first to report Factor XI mutation in Holstein cattle in Japan.
authors.affiliation: Laboratory of Animal Science, Graduate School for International Development and Cooperation, Hiroshima University, Japan.
authors.forename: Mohamed Elshabrawy
authors.initials: ME
authors.lastname: Ghanem
authors.forename: Masahide
authors.initials: M
authors.lastname: Nishibori
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Nakao
authors.forename: Keiji
authors.initials: K
authors.lastname: Nakatani
authors.forename: Masashi
authors.initials: M
authors.lastname: Akita
mesh_terms: D000818:Animals; D001947:Breeding; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D017931:DNA Primers; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000150:complications / Q000235:genetics / Q000662:veterinary*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D007246:Infertility / Q000209:etiology / Q000662:veterinary*; D007564:Japan; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D005172:Factor XI