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

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 breed... Mehr ...

Verfasser: Broeckx, Bart
Coopman, Frank
Verhoeven, Geert
Van Haeringen, Wim
van de Goor, Leanne
Bosmans, Tim
Gielen, Ingrid
Saunders, Jimmy
Soetaert, Sandra
van Bree, Henri
Van Neste, Christophe
Van Nieuwerburgh, Filip
Van Ryssen, Bernadette
Verelst, Elien
Van Steendam, Katleen
Deforce, Dieter
Dokumenttyp: journalarticle
Erscheinungsdatum: 2013
Schlagwörter: Biology and Life Sciences / BREEDS / SULFATASE / FREQUENCY / CANINE DEGENERATIVE MYELOPATHY / CENTRONUCLEAR MYOPATHY / ARYLSULFATASE-G / MISSENSE MUTATION / EXERCISE-INDUCED COLLAPSE / HIP-DYSPLASIA / DNM1 MUTATION
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26992549
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://biblio.ugent.be/publication/4227526

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.