DNA Analysis in Diagnosis of Von Willebrand Disease in Dogs

Slappendel, R.J.; Versteeg, Serge A.; Zon, Patrick H.A. van; Rothuizen, J.; Oost, B.A. van

doi:10.1080/01652176.1998.10807436

Cited by 7 publications

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The finding of more than 1 haplotype in clinically affected Doberman Pinschers is in contrast to vWD in Dutch Kooikers. 22 In Dutch Kooikers, genotype analyses that used the same vWF and PEZ6 markers revealed that all affected dogs were homozygous for a single vWD-associated haplotype. The affected Dutch Kooikers were subsequently found to be homozygous for a vWF mutation that resulted in a truncated vWF transcript, consistent with the observed type-3 recessive vWD phenotype in this breed.…”

Section: Discussionmentioning

confidence: 99%

von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

Brooks¹,

Erb²,

Foureman³

et al. 2001

ajvr

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

Brooks¹,

Erb²,

Foureman³

et al. 2001

ajvr

View full text Add to dashboard Cite

show abstract

“…A DNA test has been used before to minimize the incidence of VWD type 3 in Dutch Kooiker dogs in a short period of time (Slappendel et al . ; Van Oost et al . ).…”

mentioning

confidence: 99%

A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers

et al. 2017

View full text Add to dashboard Cite

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.

show abstract

“…Comparative approaches (57,82) have been very useful to identify gene defects for particular homologous inherited diseases in the dog. Examples for which the causative gene has been found using the candidate gene approach are Von Willebrand disease (70), progressive retinal atrophy (12), severe combined immunodeficiency disease (74) and Duchenne muscular dystrophy (4).…”

Section: Modern Genetic Analysis For Locomotion Disordersmentioning

confidence: 99%

Bone disorders in the dog: A review of modern genetic strategies to find the underlying causes

Everts

Hazewinkel

Rothuizen

et al. 2000

Veterinary Quarterly

Self Cite

View full text Add to dashboard Cite

SUMMARYIn man, the genetic defects of more than 600 inherited diseases, of which at least 150 skeletal diseases, have been identified as is the chromosomal location for approximately 7000 genes. This rapid progress has been made possible by the generation of a genetical and physical map of the human genome. There is no reason to believe that for the dog not a similar development may occur. This review is therefore focussed on the use of novel tools now available for comparative molecular genetic studies of skeletal dysplasias in the dog. Because the genomes of mammals at the subchromosomal level are very well conserved, likely candidate disease genes known from other species might be considered. In this review, formation of the bones and the most important canine disorders of the skeleton influencing locomotion will be discussed first. The canine disorders discussed are canine hip dysplasia, the three different forms of elbow dysplasia (fragmented coronoid process, ununited anconeal process, osteochondrosis dissecans and incongruency) and dwarfism. Where possible a link is made with similar diseases in man or mouse. Then, the molecular biological tools available to analyse the genetic defect will be reviewed and some examples discussed.

show abstract

DNA Analysis in Diagnosis of Von Willebrand Disease in Dogs

Cited by 7 publications

References 0 publications

von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers

A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers

Bone disorders in the dog: A review of modern genetic strategies to find the underlying causes

Contact Info

Product

Resources

About