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Updated: May 10, 2026

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一种拟议的北美方法,用于对有恶性高温症风险的个体进行基因检测

Sheila Riazi1, Stacey Watt2, Jennifer Plester3

  • 1Sheila Riazi, M.D., M.Sc.: Malignant Hyperthermia Investigation Unit, Department of Anesthesia and Pain Management, University Health Network, University of Toronto, Toronto, Ontario, Canada.

Anesthesiology
|March 10, 2026
PubMed
概括

恶性高温症的易感性可以通过将遗传检测和临床评估相结合的逐步方法来评估. 这种方法有助于平衡这种严重的药物遗传障碍的风险人群的风险和益处.

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...