A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A

M. Khalaj, A. R. Abbasi, K. Shimojo, Y. Moritomo, K. Yoneda, T. Kunieda

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Summary Two cases of hereditary bleeding disorder diagnosed as haemophilia A were recently observed in Japanese Brown cattle. We sequenced the entire coding region of the factor VIII gene of the affected animals to find a causative mutation. A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A.

Original languageEnglish
Pages (from-to)763-765
Number of pages3
JournalAnimal Genetics
Volume40
Issue number5
DOIs
Publication statusPublished - Oct 1 2009

Keywords

  • Cattle
  • Haemophilia
  • Missense mutation

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics

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