Yang R, Fan Y, Yu L
Institute of Neurology, Anhui College of TCM, Hefei.
Zhonghua Yi Xue Za Zhi. 1997 May;77(5):344-7.
To investigate the allelic heterogeneity of ATP 7 B gene in Chinese patients.
Exons of ATP7B gene from patient's DNA were amplified with PCR technique. Mutations were screened by single strand conformation polymorphism (SSCP) analysis and further confirmed by sequencing.
The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was preliminarily analyzed. A similar band shift of 4 encephalopathy type patients was identified with SSCP and sequencing. There was a missense mutation, Ser 662 Cys, which was caused by a C to G transversion at the second base of the codon.
The mutations of Chinese ATP7B gene were investigated for the first time in China and a novel missense mutation was identified.
研究中国患者ATP 7 B基因的等位基因异质性。
采用聚合酶链反应（PCR）技术扩增患者DNA中ATP7B基因的外显子。通过单链构象多态性（SSCP）分析筛选突变，并通过测序进一步确认。
初步分析了141例肝豆状核变性（WD）患者ATP7B基因第7外显子的分子结构。通过SSCP和测序鉴定出4例脑病型患者有相似的条带迁移。存在一个错义突变，即Ser 662 Cys，由密码子第二个碱基处的C到G颠换引起。
首次在中国对中国患者的ATP7B基因突变进行了研究，并鉴定出一种新的错义突变。
