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A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A
Author(s) -
Khalaj M.,
Abbasi A. R.,
Shimojo K.,
Moritomo Y.,
Yoneda K.,
Kunieda T.
Publication year - 2009
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2009.01906.x
Subject(s) - missense mutation , biology , haemophilia a , genetics , mutation , gene , haemophilia b , genotyping , coding region , amino acid substitution , haemophilia , genotype
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.