[一个中国杜氏肌营养不良症家系中肌营养不良蛋白基因突变的检测]
[Detection of dystrophin gene mutation in a Chinese pedigree affected with Duchenne muscular dystrophy].
作者信息
Du Qing, Liu Yali, Tian Li, Zhang Ling, Du Rong, Zhu Yuanzhou, Zhu Jianfang
机构信息
Department of Vasculocardiology, Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430016, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):733-6. doi: 10.3760/cma.j.issn.1003-9406.2014.06.011.
OBJECTIVE
To identify mutations of dystrophin gene in a Chinese pedigree affected with Duchenne muscular dystrophy (DMD).
METHODS
Clinical data from the pedigree was collected. Subsequently, polymerase chain reaction and DNA sequencing analysis were applied to detect the potential mutations. Restriction enzyme digestion was carried out to determine whether the mutation was present in 118 healthy controls. Clustal software was applied for analyzing the conservation of altered amino acids.
RESULTS
DNA sequencing analysis has identified a heterozygous missense mutation c.7578G>C (p.Gln2526His) mutation in exon 52 of the dystrophin gene in the proband and his mother. The same mutation was absent in the 118 healthy controls. Restriction enzyme digestion has confirmed above result. Clustal analysis indicated that the altered amino acid is highly conserved in mammals.
CONCLUSION
The results revealed a novel missense mutation (c.7578G>C) of the dystrophin gene in DMD patients.
目的
鉴定一个患有杜氏肌营养不良症（DMD）的中国家系中肌营养不良蛋白基因的突变。
方法
收集该家系的临床资料。随后，应用聚合酶链反应和DNA测序分析来检测潜在突变。进行限制性酶切以确定该突变是否存在于118名健康对照中。使用Clustal软件分析氨基酸改变的保守性。
结果
DNA测序分析在先证者及其母亲的肌营养不良蛋白基因第52外显子中鉴定出一个杂合错义突变c.7578G>C（p.Gln2526His）。118名健康对照中不存在相同突变。限制性酶切证实了上述结果。Clustal分析表明，改变的氨基酸在哺乳动物中高度保守。
结论
结果揭示了DMD患者中肌营养不良蛋白基因的一个新的错义突变（c.7578G>C）。
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