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| 肝豆状核变性中ATP7B基因复合突变的研究 |
| 徐彬1*,余元勋1,鲍远程2,王迎新1,李建平1,刘萍1,黄迅威1,朱霖1 |
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(1. 安徽医学高等专科学校, 安徽省遗传医学中心分子室, 合肥 230061;
2. 安徽中医学院第一附院神经内科, 合肥 230031
*通信作者) |
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| 摘要: |
| 目的 通过对肝豆状核变性(Wilson's disease,WD)患者 ATP7B基因测序,探讨其突变率及与WD的关系,分析WD中ATP7B基因复合突变的意义。方法 提取67例临床确诊的WD患者口腔黏膜细胞的基因组DNA,应用PCR技术对ATP7B全部外显子 5' 端→ 3' 端扩增,运用DNA直接测序法检测突变。结果 在67例患者中,发现WD中ATP7B基因突变患者52例,检出率为77.61%,其中16例纯合子突变(12例Arg778Leu纯合子突变和4例Arg919Gly纯合子突变),5例复合突变,31例单纯杂合子突变。5种ATP7B基因复合突变国内罕见报道。结论 本研究发现5种ATP7B基因的复合突变,这些复合突变可能与WD的发生发展相关,值得进一步深入研究。 |
| 关键词: 肝豆状核变性 外显子 突变 聚合酶链反应 |
| DOI：10.3724/SP.J.1008.2014.01209 |
| 投稿时间：2014-04-25修订日期：2014-07-03 |
| 基金项目:安徽省教育厅自然科学研究项目(2006KJ152C). |
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| Complex mutations of ATP7B gene in Wilson's disease |
| XU Bin1*,YU Yuan-xun1,BAO Yuan-cheng2,WANG Ying-xin1,LI Jian-ping1,LIU Ping1,HUANG Xun-wei1,ZHU Lin1 |
(1. Department of Molecule, Medical Genetics Center of Anhui Province, Anhui Medical College, Hefei 230061, Anhui, China;
2. Department of Neurology, the First Affiliated Hospital of Anhui Traditional Chinese Medicine, Hefei 230031, Anhui, China
*Corresponding authors) |
| Abstract: |
| Objective To sequence the ATP7B gene in patients with Wilson's disease (WD) and to analyze the relationship between the mutations and WD. Methods The genomic DNA was obtained from the oral mucosal cells of 67 clinically diagnosed WD patients; PCR was used to amplify all the exons 5' end→ 3' end of ATP7B gene. And the PCR products were subjected to DNA direct sequencing for mutations. Results We found that the ATP7B gene mutation rate was 77.61%(52/67) in WD patients. Of these patients,16 had homozygote mutations (including 12 patients with Arg778Leu and 4 with Arg919Gly), 5 had complex mutations, and 31 had simple hetrozygote mutations. Five types of the ATP7B gene complex mutations were rarely reported in China. Conclusion We have identified 5 complex mutations of ATP7B gene, which might be related to the development and progression of WD and deserves further study. |
| Key words: Wilson's disease exons mutation polymerase chain reaction |
