{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T02:19:13Z","timestamp":1744165153008,"version":"3.38.0"},"reference-count":18,"publisher":"American Veterinary Medical Association (AVMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ajvr"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>Objective<\/jats:bold>\u2014To develop quantitative PCR (qPCR) assays with allele-specific primers to provide a rapid and accurate diagnostic and screening test for the 3 mutations identified as causes of gangliosidoses in domestic cats.<\/jats:p>\n<jats:p><jats:bold>Sample Population<\/jats:bold>\u2014DNA samples obtained from archived feline blood samples submitted for GM1 and GM2 testing.<\/jats:p>\n<jats:p><jats:bold>Procedures<\/jats:bold>\u2014A qPCR assay was developed for each mutation to monitor the efficiency of PCR amplification. Results were determined on the basis of the fluorescent intensity of DNA staining.<\/jats:p>\n<jats:p><jats:bold>Results<\/jats:bold>\u2014Samples from 60 cats were screened by use of the 3 qPCR assays. Of these, 59 qPCR results agreed with the sequence-derived genotypes. The phenotype (affected) for the other cat agreed with results for the qPCR assay, which indicated that interpretation of the sequence-based result was incorrect.<\/jats:p>\n<jats:p><jats:bold>Conclusions and Clinical Relevance<\/jats:bold>\u2014The qPCR assays offer a sensitive, rapid, and reproducible technique for allelic discrimination without the need for complicated processing steps, such as hybridization or sequencing, after PCR procedures. These assays may prove beneficial for a rapid diagnosis of gangliosidoses in cats and could also provide a means for reliable large-scale screening for the carrier state, thereby accelerating the eradication of these debilitating diseases from feline populations.<\/jats:p>","DOI":"10.2460\/ajvr.68.3.231","type":"journal-article","created":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T02:24:15Z","timestamp":1172802255000},"page":"231-235","source":"Crossref","is-referenced-by-count":8,"title":["Development of quantitative polymerase chain reaction assays for allelic discrimination of gangliosidoses in cats"],"prefix":"10.2460","volume":"68","author":[{"given":"Chi-Young J.","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce F.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"Biochem J","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1042\/bj2350151","article-title":"GM1 gangliosidosis (type I) in a cat","volume":"235","author":"Barker","year":"1986"},{"key":"ref2","series-title":"Consultations in feline internal medicine","first-page":"615","author":"Baker","year":"2001"},{"key":"ref3","series-title":"The metabolic and molecular bases of inherited disease","first-page":"2785","article-title":"Beta-galactosidase deficiency (beta galactosidosis): GM1 gangliosidosis and Morquio B disease","author":"Suzuki","year":"1995"},{"key":"ref4","series-title":"Endocrinology","doi-asserted-by":"publisher","first-page":"5698","DOI":"10.1210\/endo.140.12.7178","article-title":"Alternations in the growth hormone\/insulin-like growth factor I pathways in feline GM1 gangliosidosis","volume":"140","author":"Cox","year":"1999"},{"key":"ref5","series-title":"Science","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1126\/science.174.4011.838","article-title":"Neuronal GM1 gangliosidosis in a Siamese cat with beta galactosidase deficiency","volume":"174","author":"Baker","year":"1971"},{"key":"ref6","series-title":"Am J Pathol","first-page":"723","article-title":"The pathology of feline GM2 gangliosidosis","volume":"90","author":"Cork","year":"1978"},{"key":"ref7","series-title":"Acta Neuropathol","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/s004010050899","article-title":"Beta-galactosidase deficiency in a Korat cat: a new form of feline GM1-gangliodosis","volume":"96","author":"De Maria","year":"1998"},{"key":"ref8","series-title":"Am J Pathol","first-page":"1109","article-title":"Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)","volume":"144","author":"Muldoon","year":"1994"},{"key":"ref9","series-title":"J Clin Invest","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1172\/JCI111997","article-title":"Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats","volume":"76","author":"Neuwelt","year":"1985"},{"key":"ref10","series-title":"Biochim Biophys Acta","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0005-2795(79)90191-0","article-title":"Antigenic homology of feline and human beta-hexosaminidase","volume":"580","author":"O'Neil","year":"1979"},{"key":"ref11","series-title":"Exp Neurol","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.expneurol.2004.01.008","article-title":"An inversion of 25 base pairs causes feline GM2 gangliosidosis variant","volume":"187","author":"Martin","year":"2004"},{"key":"ref12","series-title":"J Vet Intern Med","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1111\/j.1939-1676.2002.tb02344.x","article-title":"Recognition and diagnosis of lysosomal storage disease in the cat and dog","volume":"16","author":"Skelly","year":"2002"},{"key":"ref13","series-title":"Hum Mutat","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<189::AID-HUMU8>3.0.CO;2-H","article-title":"Mutation detection by Taq-Man-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency","volume":"15","author":"Fujii","year":"2000"},{"key":"ref14","series-title":"PCR Methods Appl","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1101\/gr.2.2.157","article-title":"Detection of mutation DF508 in the cystic fibrosis gene using allelic-specific PCR primers and time-resolved fluorometry","volume":"2","author":"Iitia","year":"1992"},{"key":"ref15","series-title":"Biotechnology (N Y)","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1038\/nbt0492-413","article-title":"Simultaneous amplification of specific DNA sequences","volume":"10","author":"Higuchi","year":"1992"},{"key":"ref16","series-title":"Biotechnology (N Y)","first-page":"1026","article-title":"Kinetic PCR: real time monitoring of DNA amplification","volume":"11","author":"Higuchi","year":"1993"},{"key":"ref17","series-title":"Clin Chim Acta","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/S0009-8981(01)00769-0","article-title":"Apolipoprotein E genotyping: a comparative study between restriction endonuclease mapping and allelic discrimination with the lightcycler","volume":"317","author":"Ballerini","year":"2002"},{"author":"Belak","key":"ref18","article-title":"Molecular diagnosis of animal disease: some ex-"}],"container-title":["American Journal of Veterinary Research"],"original-title":[],"link":[{"URL":"https:\/\/avmajournals.avma.org\/view\/journals\/ajvr\/68\/3\/ajvr.68.3.231.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/avmajournals.avma.org\/downloadpdf\/journals\/ajvr\/68\/3\/ajvr.68.3.231.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/avmajournals.avma.org\/downloadpdf\/journals\/ajvr\/68\/3\/ajvr.68.3.231.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T12:17:25Z","timestamp":1741349845000},"score":1,"resource":{"primary":{"URL":"https:\/\/avmajournals.avma.org\/view\/journals\/ajvr\/68\/3\/ajvr.68.3.231.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3]]},"references-count":18,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.2460\/ajvr.68.3.231","relation":{},"ISSN":["0002-9645"],"issn-type":[{"type":"print","value":"0002-9645"}],"subject":[],"published":{"date-parts":[[2007,3]]}}}