The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany

Bart J G Broeckx; Frank Coopman; Geert E C Verhoeven; Wim Van Haeringen; Leanne van de Goor; Tim Bosmans; Ingrid Gielen; Jimmy H Saunders; Sandra S A Soetaert; Henri Van Bree; Christophe Van Neste; Filip Van Nieuwerburgh; Bernadette Van Ryssen; Elien Verelst; Katleen Van Steendam; Dieter Deforce

doi:10.1371/journal.pone.0074811

The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany

PLoS One. 2013 Sep 19;8(9):e74811. doi: 10.1371/journal.pone.0074811. eCollection 2013.

Authors

Bart J G Broeckx¹, Frank Coopman, Geert E C Verhoeven, Wim Van Haeringen, Leanne van de Goor, Tim Bosmans, Ingrid Gielen, Jimmy H Saunders, Sandra S A Soetaert, Henri Van Bree, Christophe Van Neste, Filip Van Nieuwerburgh, Bernadette Van Ryssen, Elien Verelst, Katleen Van Steendam, Dieter Deforce

Affiliation

¹ Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.

Abstract

The objective of this study was to screen a dog population from Belgium, the Netherlands and Germany for the presence of mutant alleles associated with hip dysplasia (HD), degenerative myelopathy (DM), exercise-induced collapse (EIC), neuronal ceroid lipofuscinosis 4A (NCL), centronuclear myopathy (HMLR), mucopolysaccharidosis VII (MPS VII), myotonia congenita (MG), gangliosidosis (GM1) and muscular dystrophy (Duchenne type) (GRMD). Blood samples (K3EDTA) were collected for genotyping with Kompetitive Allele Specific PCR (n = 476). Allele and genotype frequencies were calculated in those breeds with at least 12 samples (n = 8). Hardy-Weinberg equilibrium was tested. Genetic variation was identified for 4 out of 9 disorders: mutant alleles were found in 49, 15, 3 and 2 breeds for HD, DM, EIC and NCL respectively. Additionally, mutant alleles were identified in crossbreeds for both HD and EIC. For HD, DM, EIC and NCL mutant alleles were newly discovered in 43, 13, 2 and 1 breed(s), respectively. In 9, 2 and 1 breed(s) for DM, EIC and NCL respectively, the mutant allele was detected, but the respective disorder has not been reported in those breeds. For 5 disorders (HMLR, MPS VII, MG, GM1, GRMD), the mutant allele could not be identified in our population. For the other 4 disorders (HD, DM, EIC, NCL), prevalence of associated mutant alleles seems strongly breed dependent. Surprisingly, mutant alleles were found in many breeds where the disorder has not been reported to date.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Animals
Belgium
Breeding
Dog Diseases / epidemiology*
Dog Diseases / genetics*
Dogs
Genetic Diseases, Inborn / veterinary*
Germany
Mutation
Netherlands
Prevalence

Grants and funding

The authors would like to thank the Agency for Innovation by Science and Technology in Flanders (IWT, http://www.iwt.be/) for their financial support and Royal Canin for their financial support to aid sample collection. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.