Xu P, Liang X, Ma S
Department of Neurology, First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou, 510080, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr;16(2):88-90.
To analyze the frequency of mutation in exon 8 of Wilson's disease (WD) gene in Chinese people.
Screening for ATP7B gene mutation was conducted in 45 WD patients. Mobility shift of exon 8 was analyzed by SSCP. Nucleotide sequence of exon 8 was analyzed, and the PCR products were cut by enzyme Msp I. The authors found G2273T mutation at codon 778, and according to this mutation sequence, made an analysis of enzyme cut by Msp I in all patients. 2 WD families were analyzed.
No abnormality was found in 20 controls. In 45 patients, 2 were homozygous (4.4%) and 11 heterozygous (12.2 ). The positive rate of mutation was 16.67%. The Arg778Leu mutation was validated by this study.
The mutation in exon 8 of WD gene may play an important role in pathogenesis of Wilson's disease in Chinese.
分析中国人肝豆状核变性（WD）基因第8外显子的突变频率。
对45例WD患者进行ATP7B基因突变筛查。采用单链构象多态性（SSCP）分析第8外显子的迁移率变化。分析第8外显子的核苷酸序列，并用Msp I酶切割聚合酶链反应（PCR）产物。作者发现第778密码子存在G2273T突变，并根据该突变序列对所有患者进行Msp I酶切分析。分析了2个WD家系。
20例对照未发现异常。45例患者中，2例为纯合子（4.4%），11例为杂合子（12.2%）。突变阳性率为16.67%。本研究验证了Arg778Leu突变。
WD基因第8外显子突变可能在中国肝豆状核变性发病机制中起重要作用。
