| Wilson病基因第8、14和18外显子突变检测的初步研究 |
| |
| 引用本文： | 林豪杰,董强,李乃忠,汪昕. Wilson病基因第8、14和18外显子突变检测的初步研究[J]. 中国临床医学, 2004, 11(1): 65-66 |
| |
| 作者姓名： | 林豪杰 董强 李乃忠 汪昕 |
| |
| 作者单位： | 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 |
| |
| 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(20％，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。
|
| 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 |
Preliminary Study on the Mutations of Exon 8,14 and 18 in Wilson Disease Gene |
| |
| Lin Haojie Dong Qiang Li Naizhong et al.. Preliminary Study on the Mutations of Exon 8,14 and 18 in Wilson Disease Gene[J]. Chinese Journal Of Clinical Medicine, 2004, 11(1): 65-66 |
| |
| Authors: | Lin Haojie Dong Qiang Li Naizhong et al. |
| |
| Affiliation: | Lin Haojie 1 Dong Qiang 2 Li Naizhong 2 et al. |
| |
| Abstract: | 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. |
| |
| Keywords: | Wilson disease ATP7B gene PCR SSCP Mutation detection |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
