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恶性高热的遗传学

Genetics of malignant hyperthermia.

作者信息

Brandom Barbara W

机构信息

University of Pittsburgh Medical Center, PA, USA.

出版信息

ScientificWorldJournal. 2006 Dec 28;6:1722-30. doi: 10.1100/tsw.2006.289.

DOI:10.1100/tsw.2006.289
PMID:17195870
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5917193/
Abstract

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, the RYR1 has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants of RYR1.

摘要

恶性高热综合征的遗传学研究始于一些家庭，在这些家庭中，成员既经历过恶性高热（MH）发作，且挛缩试验结果呈强阳性，可诊断为对MH易感。连锁研究将这种MH表型与许多家庭中位于19号染色体19q13.1的兰尼碱受体基因（RYR1）联系起来。尽管MH表型并不总是与19号染色体相关，但RYR1仍然是实验的重点。其他候选基因也存在，但很少有MH易感家庭携带这些基因的变体。数百名MH易感者携带RYR1变体。

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