摘要
目的 检测肝豆状核变性基因 18号外显子在中国人中的突变位点。方法 对中国人肝豆状核变性39个家系 45个患者的 18号外显子进行PCR SSCP筛选 ,对有异常者进行序列分析 (自动测序 )。结果 共发现有 16个泳动异常 ,且单链异常位置有两种不同形式。测序结果经与正常对照及与GENEBANK比较 ,证实均无突变存在。结论 肝豆状核变性 18号外显子在中国人存在单链构象多态 ,不是突变热区 。
Objective To screen for gene mutation of exon 18 in Chinese patients with Wilson disease. Methods PCR SSCP was used to screen exon 18 in 45 Wilson disease patients among 39 Chinese families and 10 normal controls. Those with abnormality were further analyzed by necleotide sequence analysis. Results There were 16 mobility shift with two different styles in exon 18. All abnormal mobility shifts were sequence analysed. No gene mutation was found. Conclusions Our result suggest that, contrary to findings in Caucasians, exon 18 is not a frequent mutation point in Chinese patients with Wilson disease.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2001年第2期86-88,共3页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金 !(编号 :396 70 2 70 )
广东省自然科学基金! (编号 :95 4334)资助
