The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
复制标题
人骨骼肌兰尼碱受体中 Arg 取代 Gly2433 与恶性高热有关。
DOI：
10.1093/hmg/3.12.2181
复制
发表时间：
1994
影响因子：
3.5
通讯作者：
D. Maclennan
中科院分区：
文献类型：
--
作者：
M. Phillips;V. Khanna;S. D. Leon;Wanda Frodls;Beverley A. Britts;D. Maclennan
应用单链构象多态性分析对17个19号染色体连锁恶性高热（MH）家系中确诊的17名成员骨骼肌兰尼碱受体基因第43和44外显子进行了筛查。在两个无关的个体中发现的多态性是由于A取代G7297，导致Arg取代Gly 2433。该突变与先前与MH和中央核心病（Y. Zhang等人，Nature Genet. 1993，5，46-50）。随后的筛查显示，在106个MH家族中有4个存在突变，而在其他约1000条染色体中没有突变。突变存在于所有6个人在4个家庭谁有MH反应，在两个专性运营商和10个人诊断为MH易感的咖啡因/氟烷挛缩试验（CHCT）。该突变存在于对CHCT反应正常的个体中，并且在三个具有阳性CHCT反应的个体中不存在。这些差异与CHCT中的不准确性和/或与四个受影响家庭中的两个中的第二个MH等位基因的分离一致。
Single strand conformational polymorphism analysis was used to screen exons 43 and 44 in the skeletal muscle ryanodine receptor gene from 17 positively diagnosed members of families in which chromosome 19-linked malignant hyperthermia (MH) was segregating. A polymorphism in two unrelated individuals was found to result from the substitution of A for G7297, leading to the substitution of Arg for Gly2433. This mutation is adjacent to a mutation (Arg2434 to His) previously linked to MH and central core disease (Y. Zhang et al., Nature Genet. 1993, 5, 46-50). Subsequent screening showed the presence of the mutation in four of 106 MH families tested and its absence from about 1000 other chromosomes. The mutation was present in all six individuals in four families who had had an MH reaction, in two obligate carriers and in 10 individuals diagnosed as MH susceptible by the caffeine/halothane contracture test (CHCT). The mutation was present in an individual with a normal response to the CHCT and was absent in three individuals with a positive CHCT response. These discrepancies would be consistent with inaccuracies in the CHCT and/or with segregation of a second MH allele within two of the four affected families.