威尔逊病基因中一个新的错义突变的鉴定
Identification of a novel missense mutation in Wilson's disease gene.
作者信息
Fan Y, Yang R, Yu L, Wu M, Shi S, Ren M, Han Y, Hu J, Zhao S
机构信息
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University, China.
出版信息
Chin Med J (Engl). 1997 Nov;110(11):887-90.
OBJECTIVE
To investigate the allelic heterogeneity of the ATP7B gene in Chinese patients with Wilson's disease (WD).
METHODS
Exons of the ATP7B gene from 141 WD patients' DNA were amplified with polymerase chain reaction (PCR) 887-890. Mutations were then screened by single strand conformation polymorphism (SSCP) analysis and further identified by sequencing.
RESULTS
The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was analyzed. The same band shift in electrophoretic pattern of 4 cerebral type patients was identified with SSCP and subsequently sequenced. The results showed missense mutation at the second base of the codon as Ser 662 Cys, which is caused by a C to G transversion.
CONCLUSIONS
Mutations of the ATP7B gene were investigated for the first time in China and a novel missense mutation was identified in four cases.
目的
研究中国威尔逊病（WD）患者ATP7B基因的等位基因异质性。
方法
采用聚合酶链反应（PCR）扩增141例WD患者DNA中ATP7B基因的外显子887 - 890。然后通过单链构象多态性（SSCP）分析筛选突变，并进一步通过测序鉴定。
结果
分析了141例WD患者ATP7B基因外显子7的分子结构。通过SSCP在4例脑型患者的电泳图谱中鉴定出相同的条带移位，随后进行测序。结果显示密码子第二个碱基发生错义突变，由C突变为G，导致Ser 662 Cys。
结论
在中国首次对ATP7B基因的突变进行研究，并在4例患者中鉴定出一种新的错义突变。
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