A novelVWFvariant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers
| Autor: | Vos-Loohuis, M, van Oost, B A, Dangel, C, Langbein-Detsch, I, Leegwater, P A, CSCA AVM, dCSCA AVR, dCSCA RMSC-1 |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities 040301 veterinary sciences von Willebrand Disease Type 2 Breeding Biology 0403 veterinary science German 03 medical and health sciences Dogs Von Willebrand factor von Willebrand Disease hemic and lymphatic diseases von Willebrand Factor Genetics Von Willebrand disease medicine Animals Dog Diseases Allele Alleles Haplotype 04 agricultural and veterinary sciences General Medicine medicine.disease Single-base extension Breed language.human_language Pedigree German Wirehaired Pointer 030104 developmental biology language biology.protein Animal Science and Zoology Type 2 |
| Zdroj: | Animal Genetics, 48(4), 493. Wiley-Blackwell |
| ISSN: | 0268-9146 |
| DOI: | 10.1111/age.12544 |
| Popis: | Von Willebrand disease (VWD), caused by deficiency of the von Willebrand factor (VWF), is the most common bleeding disorder in humans and dogs. The complete cDNA encoding VWF of a German Wirehaired Pointer with type 2 VWD was sequenced, and we found four variants that alter the amino acid sequence. These variants were: c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A and c.4937G alleles co-segregated with the VWF antigen level in a four-generation pedigree with the disease. Healthy dogs of the breed were found that were homozygous for the c.1777A or the c.5544A allele, indicating that these variants do not cause VWD. Dogs that were homozygous for the c.4937G allele and had no signs of a bleeding disorder were observed in the Chinese Crested dog breed. Thus, only the c.1657G variant was found in the homozygous state exclusively in VWD affecteds, and this variant is the strongest candidate to be the cause of VWD type 2 in the German Wirehaired Pointer breed. A screen of German Shorthaired Pointers indicated that the variant also segregates with VWD in this breed. |
| Databáze: | OpenAIRE |
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