在48个患有恶性高热的丹麦家庭中寻找RYR1基因的三种已知突变。

Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.

作者信息

Fagerlund T, Ording H, Bendixen D, Berg K

机构信息

Institute of Medical Genetics, University of Oslo, Norway.

出版信息

Clin Genet. 1994 Dec;46(6):401-4. doi: 10.1111/j.1399-0004.1994.tb04406.x.

DOI:10.1111/j.1399-0004.1994.tb04406.x

PMID:7889656

Abstract

We have examined 48 Danish families in which malignant hyperthermia reactions have occurred, with respect to three of six published mutations in the gene for the calcium release channel of sarcoplasmic reticulum (the RYR1 gene) believed to cause malignant hyperthermia susceptibility in man. The mutations are Arg614Cys, also known as the "pig mutation"; Arg163Cys; and Ile403Met. The only mutation found was Arg163Cys, which was detected in only one family. The results of this study indicate that other mutations must underlie the disorder in most Danish malignant hyperthermia-susceptible families, and that the "pig mutation" is not a frequent cause of malignant hyperthermia susceptibility in Denmark.

摘要

我们研究了48个曾发生恶性高热反应的丹麦家庭，检测了肌浆网钙释放通道基因（RYR1基因）已公布的六个突变中的三个，这些突变被认为会导致人类对恶性高热易感。这些突变分别是Arg614Cys，也被称为“猪突变”；Arg163Cys；以及Ile403Met。唯一发现的突变是Arg163Cys，仅在一个家庭中检测到。这项研究的结果表明，在大多数丹麦恶性高热易感家庭中，该病症一定是由其他突变引起的，并且“猪突变”并非丹麦恶性高热易感性的常见病因。