von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina

von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argenti...

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Detalles Bibliográficos
Autores principales: Crespi, Julián Alejandro, Barrientos, Laura Soledad, Giovambattista, Guillermo
Formato: Articulo
Lenguaje:Inglés
Publicado: 2018
Materias:
Ciencias Veterinarias
coagulopathy
Doberman Pinschers
genotyping
pyrosequencing
von Willebrand disease type 1
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/77702
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-77702
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Veterinarias
coagulopathy
Doberman Pinschers
genotyping
pyrosequencing
von Willebrand disease type 1
spellingShingle Ciencias Veterinarias
coagulopathy
Doberman Pinschers
genotyping
pyrosequencing
von Willebrand disease type 1
Crespi, Julián Alejandro
Barrientos, Laura Soledad
Giovambattista, Guillermo
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
topic_facet Ciencias Veterinarias
coagulopathy
Doberman Pinschers
genotyping
pyrosequencing
von Willebrand disease type 1
description von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G>A mutation.
format Articulo
Articulo
author Crespi, Julián Alejandro
Barrientos, Laura Soledad
Giovambattista, Guillermo
author_facet Crespi, Julián Alejandro
Barrientos, Laura Soledad
Giovambattista, Guillermo
author_sort Crespi, Julián Alejandro
title von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
title_short von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
title_full von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
title_fullStr von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
title_full_unstemmed von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
title_sort von willebrand disease type 1 in doberman pinscher dogs: genotyping and prevalence of the mutation in the buenos aires region, argentina
publishDate 2018
url http://sedici.unlp.edu.ar/handle/10915/77702
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AT barrientoslaurasoledad vonwillebranddiseasetype1indobermanpinscherdogsgenotypingandprevalenceofthemutationinthebuenosairesregionargentina
AT giovambattistaguillermo vonwillebranddiseasetype1indobermanpinscherdogsgenotypingandprevalenceofthemutationinthebuenosairesregionargentina
bdutipo_str Repositorios
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