NDLI: G244E in the canine factor IX gene leads to severe haemophilia B in Rhodesian Ridgebacks.

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G244E in the canine factor IX gene leads to severe haemophilia B in Rhodesian Ridgebacks.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Mischke, R. Kühnlein, P. Kehl, A. Langbein-Detsch, I. Steudle, F. Schmid, A. Dandekar, T. Czwalinna, A. Müller, E.
Description	Country affiliation: Germany Author Affiliation: Mischke R ( Small Animal Clinic, University of Veterinary Medicine Hannover, Bünteweg 9, D-30559 Hannover, Germany. Reinhard.Miscjke@tiho-hannover.de)
Abstract	Haemophilia B in Rhodesian Ridgebacks is currently the most important canine haemophilia in Germany. The aim of this study was to define the underlying genetic defect. Genetic studies were performed including six phenotypically affected male dogs (factor IX activity: approximately 1%), four suspected carriers (factor IX activity 48-69%, one confirmed by affected offspring), and 12 healthy dogs. Comparison of the entire coding region of the canine factor IX DNA sequences and exon-intron junctions from affected dogs with the wild type canine factor IX DNA revealed a G-A missense mutation in exon 7. This mutation results in a glycine (GGA) to glutamic acid (GAA) exchange in the catalytic domain of the haemophilic factor IX. All affected dogs were hemizygous for the detected mutation and carriers were heterozygous, whereas none of the Rhodesian Ridgebacks with normal factor IX activity showed the mutation. No further alterations in the sequences between affected dogs and the healthy control group could be observed. None of the Rhodesian Ridgebacks with undefined haemophilia B status (n=30) and no individual of three other dog breeds (Doberman Pinscher: n=20; German Wire haired Pointer: n=20; Labrador: n=25) showed the presence of the mutation. Amino acid sequence alignment and protein structural modelling analysis indicate that the detected mutation causes a relevant functional defect. The results of this study suggest that the detected mutation is responsible for a severe form of haemophilia B in Rhodesian Ridgebacks.
File Format	HTM / HTML
ISSN	10900233
Issue Number	1
Volume Number	187
e-ISSN	15322971
Journal	The Veterinary Journal
Language	English
Publisher	Elsevier
Publisher Date	2011-01-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Amino Acid Sequence Breeding Exons Isolation & Purification Discipline Veterinary Medicine Molecular Sequence Data Hemophilia B Male Mutation, Missense Journal Article Case-control Studies Sequence Alignment Factor Ix Animals Dna Dog Diseases Dogs Genetics Female Protein Conformation Veterinary
Content Type	Text
Resource Type	Article
Subject	Veterinary Animal Science and Zoology

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G244E in the canine factor IX gene leads to severe haemophilia B in Rhodesian Ridgebacks.