Advanced

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.

Broman, Marcus; Heinecke, Kai; Islander, Gunilla LU ; Schuster, Frank; Glahn, Klaus; Bodelsson, Mikael LU ; Treves, Susan and Müller, Clemens (2011) In Anesthesia and Analgesia 113(5). p.1120-1128
Abstract
A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study, we applied the High Resolution Melting (HRM) curve analysis as a tool to screen the entire coding region of the gene.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Anesthesia and Analgesia
volume
113
issue
5
pages
1120 - 1128
publisher
Lippincott Williams & Wilkins
external identifiers
  • WOS:000296236200029
  • PMID:21965348
  • Scopus:80055085351
ISSN
1526-7598
DOI
10.1213/ANE.0b013e318228293e
language
English
LU publication?
yes
id
b6d1a7cc-3c51-49fc-9983-a2dcf2507e14 (old id 2200862)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21965348?dopt=Abstract
date added to LUP
2011-11-01 17:48:08
date last changed
2016-11-27 04:29:46
@misc{b6d1a7cc-3c51-49fc-9983-a2dcf2507e14,
  abstract     = {A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study, we applied the High Resolution Melting (HRM) curve analysis as a tool to screen the entire coding region of the gene.},
  author       = {Broman, Marcus and Heinecke, Kai and Islander, Gunilla and Schuster, Frank and Glahn, Klaus and Bodelsson, Mikael and Treves, Susan and Müller, Clemens},
  issn         = {1526-7598},
  language     = {eng},
  number       = {5},
  pages        = {1120--1128},
  publisher    = {ARRAY(0x8f14470)},
  series       = {Anesthesia and Analgesia},
  title        = {Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.},
  url          = {http://dx.doi.org/10.1213/ANE.0b013e318228293e},
  volume       = {113},
  year         = {2011},
}