摘要
恶性高热是一种由吸入麻醉药或去极化肌肉松弛药引起的常染色体显性遗传的骨骼肌疾病,目前证明与位于人第19对染色体的骨骼肌肌质网RYR1基因突变有关,其中16种点突变与恶性高热的显型有关。基因学不仅可检测基因的点突变,也可检测同一家系中亲属的基因变异,并可进行基因检索,比较肌肉活检诊断的MH与RYR1基因突变的关系。现就RYR1的结构特点,突变与恶性高热的关系和麻醉药对其影响作一综述。
Malignant hyperthermia （MH） is an autosomal -dominant inherited musculoskeletal disorder triggered by volatile anesthetics or depolarizing muscle relaxants in genetically predisposed individuals. Recent studies suggest that MH is associated to skeletal muscle ryanodine receptor （RyR1） gene mutation in hereditary. We reviewed herein the characteristic of RYR1 gene structure,the correlation between RyR1 gene mutation and MH, and the effect of some anesthetics on RyR1 gene mutation.
出处
《国际麻醉学与复苏杂志》
CAS
2007年第5期460-463,共4页
International Journal of Anesthesiology and Resuscitation
关键词
恶性高热
RYR1基因
麻醉药
malignant hyperthermia
RYR1 gene
anesthetic agents
