{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:22:37Z","timestamp":1787844157812,"version":"build-2784847793"},"reference-count":19,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10]]},"abstract":"\n Objectives:<\/jats:title>\n \n The diagnosis of malignant hyperthermia (MH) is based on clinical signs or laboratory testing. The gold standard laboratory test is the\n in vitro<\/jats:italic>\n contracture test, although it is invasive, expensive, and only performed at specialized centers. Genetic diagnosis is another option, although direct mutation screening is a laborious task. Therefore, we evaluated whether high-resolution melting (HRM) curve analysis could be used as a rapid screening tool to target MH-associated mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:<\/jats:title>\n \n The feasibility of HRM analysis was evaluated using plasmids that were constructed by cloning wild-type or mutated versions of the ryanodine receptor 1 (\n RYR1<\/jats:italic>\n ) gene into the pCR2.1 plasmid. We obtained engineered plasmids and patient DNA extracted from blood samples with known wild-type or mutated sequences that are associated with MH. Amplicon lengths were kept relatively short (<250 bp) to improve discrimination between the engineered and patient plasmids. Real-time polymerase chain reaction (PCR) cycling and HRM analysis of the engineered plasmids and patient DNA were performed using the LightCycler 480 System (Roche).\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n The HRM results were clearly different from those obtained using real-time PCR. Furthermore, the HRM analysis provided sufficient resolution to identify two single-nucleotide variants in the tested\n RYR1<\/jats:italic>\n exons.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n We conclude that HRM analysis can provide high resolution for identifying single-nucleotide variants in\n RYR1<\/jats:italic>\n , which might be useful for predicting the risk of MH in the preanesthesia setting.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/tcmj.tcmj_271_20","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T11:27:34Z","timestamp":1619350054000},"page":"399-405","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Rapid screening for mutations associated with malignant hyperthermia using high-resolution melting curve analysis"],"prefix":"10.4103","volume":"33","author":[{"given":"I-Min","family":"Su","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Po-Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Yu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsien-Tse","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Ji","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-14-20240828","doi-asserted-by":"crossref","first-page":"391","DOI":"10.4097\/kjae.2012.63.5.391","article-title":"Malignant hyperthermia","volume":"63","author":"Kim","year":"2012","journal-title":"Korean J Anesthesiol"},{"key":"R2-14-20240828","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s13023-015-0310-1","article-title":"Malignant hyperthermia: A review","volume":"10","author":"Rosenberg","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"R3-14-20240828","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1002\/humu.9442","article-title":"Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia","volume":"27","author":"Galli","year":"2006","journal-title":"Hum Mutat"},{"key":"R4-14-20240828","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1213\/ANE.0b013e318228293e","article-title":"Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis","volume":"113","author":"Broman","year":"2011","journal-title":"Anesth Analg"},{"key":"R5-14-20240828","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1373\/49.6.853","article-title":"High-resolution genotyping by amplicon melting analysis using LCGreen","volume":"49","author":"Wittwer","year":"2003","journal-title":"Clin Chem"},{"key":"R6-14-20240828","doi-asserted-by":"crossref","first-page":"e28078","DOI":"10.1371\/journal.pone.0028078","article-title":"Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis","volume":"6","author":"Li","year":"2011","journal-title":"PLoS One"},{"key":"R7-14-20240828","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/humu.20951","article-title":"High-resolution DNA melting analysis: Advancements and limitations","volume":"30","author":"Wittwer","year":"2009","journal-title":"Hum Mutat"},{"key":"R9-14-20240828","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S0140-6736(70)92069-6","article-title":"Metabolic error of muscle metabolism after recovery from malignant hyperthermia","volume":"2","author":"Kalow","year":"1970","journal-title":"Lancet"},{"key":"R10-14-20240828","first-page":"721","article-title":"Halothane-induced muscle contracture as a cause of hyperpyrexia","volume":"43","author":"Ellis","year":"1971","journal-title":"Br J Anaesth"},{"key":"R11-14-20240828","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1111\/j.1399-6576.1997.tb04820.x","article-title":"In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group","volume":"41","author":"Ording","year":"1997","journal-title":"Acta Anaesthesiol Scand"},{"key":"R12-14-20240828","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1016\/S0021-9258(19)39968-5","article-title":"Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum","volume":"265","author":"Zorzato","year":"1990","journal-title":"J Biol Chem"},{"key":"R14-14-20240828","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1038\/labinvest.3780387","article-title":"Denaturing high pressure liquid chromatography (DHPLC) for the analysis of somatic p53 mutations","volume":"81","author":"Keller","year":"2001","journal-title":"Lab Invest"},{"key":"R15-14-20240828","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1213\/01.ANE.0000180214.74580.39","article-title":"Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C)","volume":"101","author":"Yeh","year":"2005","journal-title":"Anesth Analg"},{"key":"R16-14-20240828","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1006\/abio.2000.4957","article-title":"Fluorescein-labeled oligonucleotides for real-time pcr: Using the inherent quenching of deoxyguanosine nucleotides","volume":"290","author":"Crockett","year":"2001","journal-title":"Anal Biochem"},{"key":"R17-14-20240828","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.yexmp.2008.03.012","article-title":"High resolution melting applications for clinical laboratory medicine","volume":"85","author":"Erali","year":"2008","journal-title":"Exp Mol Pathol"},{"key":"R18-14-20240828","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.ab.2007.11.019","article-title":"Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System","volume":"374","author":"Grievink","year":"2008","journal-title":"Anal Biochem"},{"key":"R19-14-20240828","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1186\/1471-2407-6-295","article-title":"High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer","volume":"6","author":"Krypuy","year":"2006","journal-title":"BMC Cancer"},{"key":"R20-14-20240828","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1097\/00000542-200405000-00008","article-title":"Molecular genetic testing for malignant hyperthermia susceptibility","volume":"100","author":"Girard","year":"2004","journal-title":"Anesthesiology"},{"key":"R21-14-20240828","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1097\/ALN.0000000000003547","article-title":"Genomic Screening for Malignant Hyperthermia Susceptibility","volume":"133","author":"Biesecker","year":"2020","journal-title":"Anesthesiology"}],"container-title":["Tzu Chi Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/tcmj.tcmj_271_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:12:17Z","timestamp":1787843537000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/tcmj.tcmj_271_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/tcmj.tcmj_271_20","relation":{},"ISSN":["1016-3190"],"issn-type":[{"value":"1016-3190","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10]]}}}