{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T22:42:53Z","timestamp":1793745773532,"version":"4.6.1"},"reference-count":19,"publisher":"American Veterinary Medical Association (AVMA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["javma"],"published-print":{"date-parts":[[2009,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>Objective<\/jats:bold>\u2014To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM) genes in elite performance subgroups of American Quarter Horses (AQHs).<\/jats:p>\n<jats:p><jats:bold>Design<\/jats:bold>\u2014Prospective genetic survey.<\/jats:p>\n<jats:p><jats:bold>Animals<\/jats:bold>\u2014651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs).<\/jats:p>\n<jats:p><jats:bold>Procedures<\/jats:bold>\u2014Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse) were geno- typed for 5 disease-causing alleles. Age-matched control AQHs and APHs were used to establish comparative whole-breed estimates of allele frequencies.<\/jats:p>\n<jats:p><jats:bold>Results<\/jats:bold>\u2014Highest allele frequencies among control AQHs were for type 1 PSSM (0.055) and GBED (0.054), whereas HERDA (0.021) and HYPP (0.008) were less prevalent. Control APHs uniquely harbored LWFS (0.107) and had high prevalence of HYPP (0.025), relative to AQHs. Halter horse subgroups had significantly greater allele frequencies for HYPP (0.299) and PSSM (0.155). Glycogen branching enzyme deficiency, HERDA, and PSSM were found broadly throughout subgroups; cutting subgroups were distinct for HERDA (0.142), and western pleasure subgroups were distinct for GBED (0.132). Racing and barrel racing subgroups had the lowest frequencies of the 5 disease genes.<\/jats:p>\n<jats:p><jats:bold>Conclusions and Clinical Relevance<\/jats:bold>\u2014Accurate estimates of disease-causing alleles in AQHs and APHs may guide use of diagnostic genetic testing, aid management of genetic diseases, and help minimize production of affected foals.<\/jats:p>","DOI":"10.2460\/javma.234.1.120","type":"journal-article","created":{"date-parts":[[2009,1,2]],"date-time":"2009-01-02T21:46:52Z","timestamp":1230932812000},"page":"120-125","source":"Crossref","is-referenced-by-count":106,"title":["Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses"],"prefix":"10.2460","volume":"234","author":[{"given":"Robert C.","family":"Tryon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Cecilia T.","family":"Penedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly E.","family":"McCue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie J.","family":"Valberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Mickelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas R.","family":"Famula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle L.","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Nooteboom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danika L.","family":"Bannasch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"Nat Genet","first-page":"144","article-title":"Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding","volume":"2","author":"Rudolph","year":"1992"},{"key":"ref2","series-title":"Mamm Genome","first-page":"306","article-title":"Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses","volume":"9","author":"Santschi","year":"1998"},{"key":"ref3","series-title":"Mamm Genome","first-page":"426","article-title":"A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease","volume":"9","author":"Metallinos","year":"1998"},{"key":"ref4","series-title":"Hum Mol Genet","first-page":"1047","article-title":"A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); 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