肝豆状核变性中ATP7B基因复合突变的研究  

Complex mutations of ATP7B gene in Wilson's disease

作　　者：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 朱霖[1] 

机构地区：[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

出　　处：《第二军医大学学报》2014年第11期1209-1214,共6页Academic Journal of Second Military Medical University

基　　金：安徽省教育厅自然科学研究项目(2006KJ152C)~~

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。Objective To sequence the ATP7 B 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 ATP7 B gene.And the PCR products were subjected to DNA direct sequencing for mutations.Results We found that the ATP7 Bgene mutation rate was77.61%（52/67）in WD patients.Of these patients,16 had homozygote mutations（including 12 patients with Arg778 Leu and 4with Arg919Gly）,5had complex mutations,and 31 had simple hetrozygote mutations.Five types of the ATP7 Bgene complex mutations were rarely reported in China.Conclusion We have identified 5complex mutations of ATP7 Bgene,which might be related to the development and progression of WD and deserves further study.

关 键 词：肝豆状核变性 外显子 突变 聚合酶链反应 

分 类 号：R742.4[医药卫生—神经病学与精神病学]