Gentests für Erbkrankheiten beim Pferd

Beim Pferd sind zahlreiche Erbkrankheiten bekannt, die unterschiedliche Probleme für Pferd, Halter und Züchter mit sich bringen. Für viele dieser Krankheiten stehen inzwischen Gentests zur Verfügung. Eine Auswahl der wichtigsten Erbkrankheiten mit verfügbaren Gentests für das Pferd wird im Folgenden vorgestellt.

• Literatur

• 1 Aleman M, Nieto JE, Magdesian KG. Malignant hyperthermia associated with ryanodine receptor 1 (C7360 G) mutation in Quarter Horses. J Vet Intern Med 2009; 23: 329-334
• 2 Bailey E, Brooks SA. Medical Genetics. In: Bailey E, Brooks SA, Hrsg. Horse Genetics. 2. Aufl. Oxfordshire: CAB International; 2013: 95-111
• 3 Bjorck G, Everz KE, Hansen HJ et al. Congenital cerebellar ataxia in the gotland pony breed. Zentralbl Veterinarmed A 1973; 20: 341-354
• 4 Bowilng AT, Byrns G, Spier S. Evidence fo a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in Quarter Horses. Anim Genet 1996; 29: 41-42
• 5 Brault LS, Penedo MC. The frequency of the cerebellar abiothrophy mutation in non-Arabian horse breeds. Equine Vet J 2011; 43 (6) 727-731
• 6 Brault LS, Cooper CA, Famula TR et al. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH . Genomics 2011; 97: 121-129
• 7 Brault LS, Famula TR, Penedo MC. Inheritance of cerebellar abiotrophy in Arabians. Am J Vet Res 2011; 72 (7) 940-944
• 8 Brooks SA, Gabreski N, Miller D et al. Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome. PLoS Genet 2010; 6 (4) e1000909
• 9 Deutsche Quarter Horse Association. Gentest. Im Internet: http://www.dqha.de/dqha/formularservice/gentest/Stand 18.08.2016
• 10 Finno CJ, Spier SJ, Valberg SJ. Equine diseases caused by known genetic mutations. Vet J 2009; 179: 336-347
• 11 Graves KT, Henney PJ, Ennis RB. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 2009; 40: 35-41
• 12 Hardy MH, Fisher KR, Vrablic OE et al. An inherited connective tissue disease in the horse. Laboratory Investigation 1988; 59: 253-262
• 13 Hart KA. Lethal White Foal Syndrome. In: Wilson DA, Hrsg. Clinical Veterinary Advisor: The Horse. 1. Aufl. St. Louis: Saunders; 2012: 341-342
• 14 Hines MT. Changes in body temperature. In: Reed SM, Bayly WM, Sellon DC, Hrsg. Equine Internal Medicine. 3. Aufl. St. Louis: Saunders; 2010: 91-96
• 15 Institut für Tierzucht und Vererbungsforschung, Stiftung Tierärztliche Hochschule Hannover. Cerebelläre Abiotrophie. Im Internet: http://www.tiho-hannover.de/kliniken-institute/institute/institut-fuer-tierzucht-und-vererbungsforschung/dienstleistungen/gentests/gentests-pferd/cerebellaere-abiotrophie/Stand 18.08.2016.
• 16 Koch P, Fischer H. Die Oldenburger Fohlenataxie als Erbkrankheit. Tierarztl Umsch 1950; 5: 317-320
• 17 Laboklin. PSSM – Was ist das?. Im Internet: http://www.laboklin.de/pdf/de/service/rat_tat/rt_pferd_pssm.pdf Stand: 18.08.2016
• 18 Lunn P, Horohov D. Primary Immunodeficiency. In: Reed SM, Bayly WM, Sellon DC, Hrsg. Equine Internal Medicine. 3. Aufl. St. Louis: Saunders; 2010: 37-40
• 19 McCue ME, Valberg SJ, Miller MB et al. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 2008; 458-460
• 20 McCue ME, Valberg SJ, Jackson M et al. Polysaccharide storage myopathy phenotype in QuarterHorse-related breeds is modified by the presence of a RYR1 mutation. Neuromuscular Disorders 2009; 19: 37-43
• 21 McCue ME, Anderson SM, Valberg SJ et al. Estimated prevalence oft he type 1 polysaccharide storage myopathy mutation in selected North American and European breeds. Anim Genet 2010; 41 (Suppl. 02) 145-149
• 22 Milenkovic D, Chaffaux S, Taourit S et al. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genet Sel Evol 2003; 35: 249-256
• 23 Munstermann A. Hyperthermia. In: Wilson DA, Hrsg. Clinical Veterinary Advisor: The Horse. 1. Aufl. St. Louis: Saunders; 2012: 280-282
• 24 Rudolph J, Spier S, Byrns G et al. Periodic paralysis in Quarter Horses, a sodium channel mutation disseminated by selective breeding. Nature Genet 1992; 2: 144-147
• 25 Santschi EM, Purdy AK, Valberg SJ et al. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome 1998; 9: 306-309
• 26 Shin EK, Perryman LE, Meek K. A kinase negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol 1997; 158: 3565-3569
• 27 Spirito F, Charlesworth A, Linder K et al. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol 2002; 119: 684-691
• 28 Tryon RC, White SD, Bannasch DL. Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 2007; 90: 93-102
• 29 Tryon RC, Pennedo MC, McCue ME et al. Evaluation of the allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc 2009; 234: 120-125
• 30 Valentine BA. Polysaccharide Storage Myopathy. In: Wilson DA, Hrsg. Clinical Veterinary Advisor: The Horse. 1. Aufl. St. Louis: Saunders; 2012: 461-462
• 31 Ward TL, Valberg SJ, Adelson DL et al. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome 2004; 15: 570-577