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

Author:
Khalaj, M., Abbasi, A.R., Shimojo, K., Moritomo, Y., Yoneda, K., Kunieda, T.
Source:
Animal genetics 2009 v.40 no.5 pp. 763-765
ISSN:
0268-9146
Subject:
Wagyu, amino acid substitution, cattle, factor VIII, genes, genotyping, hemophilia, hemorrhage, histidine, leucine, missense mutation, pedigree
Abstract:
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.
Agid:
2214830