IDENTIFICATION OF A MUTATION IN PORCINE RYANODINE RECEPTOR ASSOCIATED WITH MALIGNANT HYPERTHERMIA
IDENTIFICATION OF A MUTATION IN PORCINE RYANODINE RECEPTOR ASSOCIATED WITH MALIGNANT HYPERTHERMIA
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DOI：
10.1126/science.1862346
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发表时间：
1991-07-26
期刊：
影响因子：
56.9
通讯作者：
MACLENNAN, DH
中科院分区：
文献类型：
--
作者：
FUJII, J;OTSU, K;MACLENNAN, DH
恶性高热（MH）会导致人类神经系统、肝脏和肾脏的损伤和死亡，以及养猪业的重大经济损失。在猪骨骼肌兰尼碱受体（ryr1）基因中的一个单点突变被发现与五个主要品种的瘦肉型重肌猪的MH相关。单倍型分析表明，在所有五个品种的突变有一个共同的起源。假设这是MH的致病突变，开发非侵入性诊断测试将为消除MH基因或将其纳入猪育种计划提供基础。
Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.