摘要
目的 :研究中西医结合治疗肝豆状核变性 (又称Wilson病 )疗效与临床表型和ATP7B基因第 1 8外显子突变的关系。方法 :1 2 2例具有不同临床表型的Wilson病患者以二巯基丙磺酸钠 (Unithiol) 2 0mg·kg- 1 ·d- 1 和中药肝豆片每次 1 0片 ,每天 3次治疗 ,疗程 1个月。采用多聚酶链反应 -单链构象多态 (PCR SSCP)分析技术对全部患者和 2 0名健康志愿者的ATP7B基因第 1 8外显子扩增进行突变及多态检测。结果 :3 7例患者呈现 4种不同类型的PCR SSCP异常迁移带而强烈提示突变的存在。不同临床表型患者的突变率以及有明显突变可能和无突变患者的疗效比较无显著性差异 (P >0 0 5 )。而肝豆状核变性型和假性硬化型的总有效率明显优于肝型患者 (P <0 0 5 )。结论 :中国人Wilson病患者ATP7B基因第 1 8外显子可能为一突变高发区。因绝大部分Wilson病患者是复合杂合子 ,且不同临床表型Wilson患者具有不同的疗效反应 ,故这些突变至少部分影响了临床表型的产生和治疗效果的好坏。
Objective: To investigate the curative effect of TCM WM therapy on Wilson disease (WD) with different clinical phenotypes and polymorphisms of ATP7B gene. Methods: One hundred and twenty two WD patients with different clinical phenotypes were treated with unithiol 20 mg/kg per day and Gandou tablet (肝豆片) for 1 month. Exon 18 of ATP7B gene extracted from patients and 20 healthy volunteers were amplified with PCR technique, mutations and polymorphisms were screened by SSCP analysis. Results: Four kinds of abnormal migration bands in PCR SSCP were seen in 37 patients, mutation frequencies of three different clinical phenotypes and curative effect between mutation and non mutation patients did not show any significant difference, P>0 05. But total effective rate of patients with Wilson type or pseudosclerosis type was significantly higher than that of patients with hepatic type, P<0 05. Conclusions: The exon 18 of ATP7B gene of Chinese WD patients may be one of the regions with higher mutation frequency, most of them are compound heterozygotes and patients with different clinical phenotypes have different response to TCM WM therapy. It indicate that specific mutations at least in part play a role in influencing clinical phenotypes and curative effect.
出处
《中国中西医结合杂志》
CAS
CSCD
北大核心
1998年第11期652-654,共3页
Chinese Journal of Integrated Traditional and Western Medicine
基金
安徽省自然科学基金资助课题!(No .97412 0 0 1)
关键词
肝豆状核变性
中西医结合治疗
基因突变
疗效
Wilson disease
gene
mutation detection
integrated traditional Chinese medicine with western medicine therapy
