The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany
Publication Date
September 19, 2013
Journal
PLOS ONE
Authors
Bart J. G. Broeckx, Frank Coopman, Geert E. C. Verhoeven, Wim Van Haeringen, et al
Volume
8
Issue
9
Pages
e74811
DOI
https://dx.plos.org/10.1371/journal.pone.0074811
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0074811
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/24069350
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777979
Europe PMC
http://europepmc.org/abstract/MED/24069350
Web of Science
000324777300048
Scopus
84884364218
Mendeley
http://www.mendeley.com/research/prevalence-nine-genetic-disorders-dog-population-belgium-netherlands-germany
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Mendeley | Further Information

{"title"=>"The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany", "type"=>"journal", "authors"=>[{"first_name"=>"Bart J G", "last_name"=>"Broeckx", "scopus_author_id"=>"55889365300"}, {"first_name"=>"Frank", "last_name"=>"Coopman", "scopus_author_id"=>"6603046922"}, {"first_name"=>"Geert E C", "last_name"=>"Verhoeven", "scopus_author_id"=>"32668138000"}, {"first_name"=>"Wim", "last_name"=>"Van Haeringen", "scopus_author_id"=>"6603748624"}, {"first_name"=>"Leanne", "last_name"=>"van de Goor", "scopus_author_id"=>"6602420158"}, {"first_name"=>"Tim", "last_name"=>"Bosmans", "scopus_author_id"=>"8565639300"}, {"first_name"=>"Ingrid", "last_name"=>"Gielen", "scopus_author_id"=>"6701387751"}, {"first_name"=>"Jimmy H.", "last_name"=>"Saunders", "scopus_author_id"=>"7402341345"}, {"first_name"=>"Sandra S A", "last_name"=>"Soetaert", "scopus_author_id"=>"53980522200"}, {"first_name"=>"Henri", "last_name"=>"Van Bree", "scopus_author_id"=>"7005983625"}, {"first_name"=>"Christophe", "last_name"=>"Van Neste", "scopus_author_id"=>"55390200900"}, {"first_name"=>"Filip", "last_name"=>"Van Nieuwerburgh", "scopus_author_id"=>"12345200700"}, {"first_name"=>"Bernadette", "last_name"=>"Van Ryssen", "scopus_author_id"=>"6603072431"}, {"first_name"=>"Elien", "last_name"=>"Verelst", "scopus_author_id"=>"55860133500"}, {"first_name"=>"Katleen", "last_name"=>"Van Steendam", "scopus_author_id"=>"24169895800"}, {"first_name"=>"Dieter", "last_name"=>"Deforce", "scopus_author_id"=>"6602167794"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-84884364218", "sgr"=>"84884364218", "pui"=>"369857681", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pmid"=>"24069350", "doi"=>"10.1371/journal.pone.0074811"}, "id"=>"2979bec3-92b2-389a-8fe8-3226c1171ced", "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.", "link"=>"http://www.mendeley.com/research/prevalence-nine-genetic-disorders-dog-population-belgium-netherlands-germany", "reader_count"=>38, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>3, "Student > Doctoral Student"=>4, "Researcher"=>7, "Student > Ph. D. Student"=>8, "Student > Postgraduate"=>1, "Other"=>1, "Student > Master"=>7, "Student > Bachelor"=>5, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>3, "Student > Doctoral Student"=>4, "Researcher"=>7, "Student > Ph. D. Student"=>8, "Student > Postgraduate"=>1, "Other"=>1, "Student > Master"=>7, "Student > Bachelor"=>5, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Environmental Science"=>1, "Biochemistry, Genetics and Molecular Biology"=>2, "Agricultural and Biological Sciences"=>14, "Medicine and Dentistry"=>11, "Neuroscience"=>1, "Veterinary Science and Veterinary Medicine"=>6, "Pharmacology, Toxicology and Pharmaceutical Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>11}, "Neuroscience"=>{"Neuroscience"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>14}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>2}, "Unspecified"=>{"Unspecified"=>2}, "Environmental Science"=>{"Environmental Science"=>1}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>6}}, "reader_count_by_country"=>{"Colombia"=>1, "Austria"=>1, "Mexico"=>1, "Spain"=>1}, "group_count"=>3}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1210274"], "description"=>"<p>CFA = chromosome number; AR = autosomal recessive, XR = X-linked recessive, MP = multifactorial; MS = missense, SP = splice variant, FS = frame shift, ES = exon skipping, SINE = short interspersed element, SNP = single nucleotide polymorphism;<sup> 1</sup> leading to premature termination, <sup>2</sup> reduced penetrance.</p>", "links"=>[], "tags"=>["disorders", "tested", "corresponding", "chromosome", "breeds", "mutation", "been"], "article_id"=>803917, "categories"=>["Biological Sciences"], "users"=>["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"=>"https://dx.doi.org/10.1371/journal.pone.0074811.t001", "stats"=>{"downloads"=>3, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Overview_of_9_disorders_tested_with_their_corresponding_chromosome_number_the_mutation_the_effect_the_inheritance_the_breeds_where_the_mutation_has_been_reported_before_and_the_animal_model_/803917", "title"=>"Overview of 9 disorders tested with their corresponding chromosome number, the mutation, the effect, the inheritance, the breeds where the mutation has been reported before and the animal model.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-09-19 02:53:31"}
  • {"files"=>["https://ndownloader.figshare.com/files/1210273"], "description"=>"a<p> = not specified whether English or Welsh Springer Spaniel.</p>", "links"=>[], "tags"=>["samples", "breed"], "article_id"=>803916, "categories"=>["Biological Sciences"], "users"=>["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"=>"https://dx.doi.org/10.1371/journal.pone.0074811.t002", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Breed_and_samples_per_breed_tested_/803916", "title"=>"Breed and samples per breed tested.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-09-19 02:53:31"}
  • {"files"=>["https://ndownloader.figshare.com/files/1210270"], "description"=>"<p>NN = 2 normal alleles, NA = heterozygous, AA = 2 mutant alleles, HWE = Hardy-Weinberg equilibrium, q = mutant allele frequency, % = percent of dogs belonging to specific category, – = not applicable.</p>", "links"=>[], "tags"=>["mutant", "alleles", "exercise-induced", "breed", "prevalence", "breeds", "12"], "article_id"=>803913, "categories"=>["Biological Sciences"], "users"=>["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"=>"https://dx.doi.org/10.1371/journal.pone.0074811.t005", "stats"=>{"downloads"=>1, "page_views"=>22, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Breeds_where_mutant_alleles_for_exercise_induced_collapse_were_found_and_breed_specific_prevalence_for_breeds_with_at_least_12_samples_/803913", "title"=>"Breeds where mutant alleles for exercise-induced collapse were found and breed specific prevalence for breeds with at least 12 samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-09-19 02:53:31"}
  • {"files"=>["https://ndownloader.figshare.com/files/1210268"], "description"=>"<p>The reference population consists of 2 different subsets based on collection method. Source: Public = based on request by the owner to perform genetic testing for EIC, Soure: researchers = researchers went to several competitions and took samples from every dog. Est. Freq (HWE) = estimated frequencies under Hardy-Weinberg equilibrium.</p>", "links"=>[], "tags"=>["genotype", "frequencies", "exercise-induced", "labrador"], "article_id"=>803911, "categories"=>["Biological Sciences"], "users"=>["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"=>"https://dx.doi.org/10.1371/journal.pone.0074811.t007", "stats"=>{"downloads"=>4, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Comparisons_of_genotype_frequencies_for_exercise_induced_collapse_in_the_Labrador_Retriever_/803911", "title"=>"Comparisons of genotype frequencies for exercise-induced collapse in the Labrador Retriever.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-09-19 02:53:31"}
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  • {"files"=>["https://ndownloader.figshare.com/files/1210271"], "description"=>"<p>NN = 2 normal alleles, NA = heterozygous, AA = 2 mutant alleles, HWE = Hardy-Weinberg equilibrium, q = mutant allele frequency, % = percent of dogs belonging to specific category, – = not applicable.</p>", "links"=>[], "tags"=>["mutant", "alleles", "degenerative", "myelopathy", "breed", "prevalence", "breeds", "12"], "article_id"=>803914, "categories"=>["Biological Sciences"], "users"=>["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"=>"https://dx.doi.org/10.1371/journal.pone.0074811.t004", "stats"=>{"downloads"=>1, "page_views"=>23, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Breeds_where_mutant_alleles_for_degenerative_myelopathy_were_found_and_breed_specific_prevalence_for_breeds_with_at_least_12_samples_/803914", "title"=>"Breeds where mutant alleles for degenerative myelopathy were found and breed specific prevalence for breeds with at least 12 samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-09-19 02:53:31"}

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Relative Metric

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