Wilson病基因第8、14和18外显子突变检测的初步研究  

Preliminary Study on the Mutations of Exon 8,14 and 18 in Wilson Disease Gene

作　　者：林豪杰[1] 董强[2] 李乃忠[2] 汪昕[1] 

机构地区：[1]复旦大学附属中山医院神经内科,上海200032 [2]复旦大学附属华山医院神经内科,上海200040

出　　处：《中国临床医学》2004年第1期65-66,共2页Chinese Journal of Clinical Medicine

摘　　要：目的 :探索中国人群Wilson病基因 (ATP7B)第 8、14、18外显子突变特征。方法 :采用聚合酶链反应 单链构象多态性(PCR SSCP)银染技术初步研究了 30例患者和 15例正常人ATP7B基因第 8、14、18外显子突变频率。结果 :第 8外显子有 6例患者发现泳动异常 ( 2 0 % ,6 / 30 ) ,且均为杂合子 ;14、18外显子及正常人未见异常迁移。结论 :提示中国人ATP7B基因第 8外显子可能为一突变热区。Objective: To explore the mutation characteristics of the exon 8,14 and 18 of ATP7B gene in Wilson disease patients.Methods:We preliminarily studied the mutation frequency of the exon 8,14 and 18 of ATP7B gene using a polymerase chain reaction single strand conformation polymorphism(PCR SSCP) and silver staining technique in 30 patients with Wilson disease and 15 normal controls.Results: Abnormal migration bands in PCR SSCP were observed in 6 heterozygotes of 30 patients(20%,6/30), they were detected in exon 8 but none in exon 14,18 and controls.Conclusion: Exon 8 might be a hot spotn of mutation in ATP7B gene in Chinese.

关 键 词：WILSON病基因 外显子 突变检测 ATP7B基因 聚合酶链反应 常染色体隐性遗传铜代谢障碍性疾病 

分 类 号：R596[医药卫生—内科学]