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

Bart Broeckx (UGent) , Frank Coopman (UGent) , Geert Verhoeven (UGent) , Wim Van Haeringen, Leanne van de Goor, Tim Bosmans (UGent) , Ingrid Gielen (UGent) , Jimmy Saunders (UGent) , Sandra Soetaert (UGent) , Henri van Bree (UGent) , et al.
(2013) PLOS ONE. 8(9).
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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.
Keywords
BREEDS, SULFATASE, FREQUENCY, CANINE DEGENERATIVE MYELOPATHY, CENTRONUCLEAR MYOPATHY, ARYLSULFATASE-G, MISSENSE MUTATION, EXERCISE-INDUCED COLLAPSE, HIP-DYSPLASIA, DNM1 MUTATION

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Chicago
Broeckx, Bart, Frank Coopman, Geert Verhoeven, Wim Van Haeringen, Leanne van de Goor, Tim Bosmans, Ingrid Gielen, et al. 2013. “The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany.” Plos One 8 (9).
APA
Broeckx, B., Coopman, F., Verhoeven, G., Van Haeringen, W., van de Goor, L., Bosmans, T., Gielen, I., et al. (2013). The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLOS ONE, 8(9).
Vancouver
1.
Broeckx B, Coopman F, Verhoeven G, Van Haeringen W, van de Goor L, Bosmans T, et al. The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLOS ONE. 2013;8(9).
MLA
Broeckx, Bart, Frank Coopman, Geert Verhoeven, et al. “The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany.” PLOS ONE 8.9 (2013): n. pag. Print.
@article{4227526,
  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.},
  articleno    = {e74811},
  author       = {Broeckx, Bart and Coopman, Frank and Verhoeven, Geert and Van Haeringen, Wim and van de Goor, Leanne and Bosmans, Tim and Gielen, Ingrid and Saunders, Jimmy and Soetaert, Sandra and van Bree, Henri and Van Neste, Christophe and Van Nieuwerburgh, Filip and Van Ryssen, Bernadette and Verelst, Elien and Van Steendam, Katleen and Deforce, Dieter},
  issn         = {1932-6203},
  journal      = {PLOS ONE},
  language     = {eng},
  number       = {9},
  pages        = {8},
  title        = {The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany},
  url          = {http://dx.doi.org/10.1371/journal.pone.0074811},
  volume       = {8},
  year         = {2013},
}

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