[中国人遗传性运动感觉神经病中神经节苷脂诱导分化相关蛋白-1基因的突变分析]
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
作者信息
Zhang Ru-xu, Tang Bei-sha, Zi Xiao-hong, Luo Wei, Xia Kun, Pan Qian, Long Zhi-gao, Hu Zheng-mao, Li Xiao-bo
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):207-10.
OBJECTIVE
To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.
METHODS
Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.
RESULTS
A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.
CONCLUSION
A533G and A767G of GDAP1 gene were new mutations firstly reported.
目的
研究中国夏科-马里-图斯病（CMT）患者中神经节苷脂诱导分化相关蛋白-1（GDAP1）基因的突变特征。
方法
采用聚合酶链反应-单链构象多态性（PCR-SSCP）结合DNA直接测序法，对23例CMT患者GDAP1基因的6个外显子及其侧翼区域进行突变分析，其中包括8个常染色体隐性CMT家系的先证者和15例散发患者。
结果
在一个常染色体隐性CMT家系中发现了复合杂合突变A533G和A767G。纯合和杂合T507G是中国人群中的常见单核苷酸多态性。
结论
GDAP1基因的A533G和A767G是首次报道的新突变。
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