A MUTATION IN THE HUMAN RYANODINE RECEPTOR GENE ASSOCIATED WITH CENTRAL CORE DISEASE
A MUTATION IN THE HUMAN RYANODINE RECEPTOR GENE ASSOCIATED WITH CENTRAL CORE DISEASE
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DOI：
10.1038/ng0993-46
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发表时间：
1993-09-01
期刊：
影响因子：
30.8
通讯作者：
MACLENNAN, DH
中科院分区：
文献类型：
--
作者：
ZHANG, YL;CHEN, HS;MACLENNAN, DH
中枢核心病是一种形态不同的常染色体显性遗传性肌病，具有不同的临床特征。已发现与恶性高热(MH)密切相关。由于MH和CCD2个基因与骨骼肌兰尼定受体(RYR1)基因连锁，因此对1个CCD型个体进行了基因序列分析，以寻找RYR1型突变。唯一发现的氨基酸替换是Arg2434His突变，其原因是A替换了G7301。在一个130个成员的16个信息性减数分裂中，该突变与Cd连锁，重组率为0.0，Lod得分为4.8，提示与Cd有因果关系。
Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hypertheria (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. The only amino acid substitution found was an Arg2434His mutation, resulting from the substitution of A for G7301. This mutation was linked to CCD with a lod score of 4.8 at a recombinant fraction of 0.0 in 16 informative meioses in a 130 member family, suggesting a causal relationship to CCD.