https://scholars.lib.ntu.edu.tw/handle/123456789/536712
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | HUEI-MING YEH | en_US |
dc.contributor.author | Tsai M.-C. | en_US |
dc.contributor.author | Su Y.-N. | en_US |
dc.contributor.author | Shen R.-C. | en_US |
dc.contributor.author | HWANG, JUEY-JEN | en_US |
dc.contributor.author | WEI-ZEN SUN | en_US |
dc.contributor.author | LING-PING LAI | en_US |
dc.date.accessioned | 2020-12-31T02:57:31Z | - |
dc.date.available | 2020-12-31T02:57:31Z | - |
dc.date.issued | 2005 | - |
dc.identifier.issn | 0003-2999 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-27444435235&doi=10.1213%2f01.ANE.0000180214.74580.39&partnerID=40&md5=f0e978486b119e01897964a536449827 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/536712 | - |
dc.description.abstract | We performed the present study to identify the mutation in patients in Taiwan with malignant hyperthermia (MH). We also test the hypothesis that a denaturing high-performance liquid chromatography (DHPLC) protocol can be used for mutation detection in these patients. We identified five Taiwanese patients with typical clinical presentations of MH after general anesthesia. We also enrolled 50 healthy volunteers. Polymerase chain reaction was used to amplify the ryanodine receptor (RYR1) gene mutation hot spots and DHPLC techniques were used to screen for mutations. Upon detection of a heterozygous elution pattern in DHPLC analysis, DNA sequencing reaction was performed to identify the nucleotide variations. We identified a RYR1 mutation in all 5 patients with MH. There were 4 different mutations in the 5 patients: Tyr522Cys, Arg552Trp, Val2168Met, and Thr2206Arg. Among the 5 patients, 2 unrelated patients had the same Thr2206Arg mutation. Three of the mutations had been reported before, but the Tyr522Cys mutation was novel. None of the MH-related mutations were found in the control group. In conclusion, we identified RYR1 mutations in 5 Taiwanese patients with MH using a DHPLC-based approach. A DHPLC-based genetic test may be developed as a noninvasive and convenient test for MH. ?2005 by the International Anesthesia Research Society. | en_US |
dc.publisher | Lippincott Williams and Wilkins | en_US |
dc.relation.ispartof | Anesthesia and Analgesia | en_US |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | genomic DNA; receptor subtype; ryanodine receptor; ryanodine receptor 1; unclassified drug; adolescent; adult; article; chromosome 19q; clinical article; denaturing high performance liquid chromatography; female; gene mutation; human; male; malignant hyperthermia; nucleotide sequence; polymerase chain reaction; priority journal; receptor gene; surgical patient; Taiwan | - |
dc.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) | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1213/01.ANE.0000180214.74580.39 | - |
dc.identifier.pmid | 16244001 | - |
dc.identifier.scopus | 2-s2.0-27444435235 | - |
dc.relation.pages | 1401-1406 | en_US |
dc.relation.journalvolume | 101 | en_US |
dc.relation.journalissue | 5 | en_US |
item.fulltext | no fulltext | - |
item.grantfulltext | none | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Anesthesiology-NTUH | - |
crisitem.author.dept | Anesthesiology | - |
crisitem.author.dept | Internal Medicine | - |
crisitem.author.dept | Anesthesiology | - |
crisitem.author.dept | Anesthesiology-NTUH | - |
crisitem.author.dept | Brain and Mind Sciences | - |
crisitem.author.dept | Medical Device and Imaging | - |
crisitem.author.dept | Oncology-NTUH | - |
crisitem.author.dept | Biomedical Electronics and Bioinformatics | - |
crisitem.author.dept | Internal Medicine | - |
crisitem.author.dept | Internal Medicine-NTUH | - |
crisitem.author.orcid | 0000-0003-0077-3284 | - |
crisitem.author.orcid | 0000-0001-6437-0455 | - |
crisitem.author.orcid | 0000-0001-8543-2600 | - |
crisitem.author.orcid | 0000-0002-9651-7420 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Electrical Engineering and Computer Science | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
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