PARK7基因突变所致早发性帕金森病遗传学分析  

Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation

作　　者：谢非 郑晓省 岑志栋[3] 罗巍[3] Xie Fei;Zheng Xiaosheng;Cen Zhidong;Luo Wei(Department of Neurology,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310000,China;Intensive Care Unit,Zhejiang Hospital,Hangzhou,Zhejiang 310012,China;Department of Neurology,the Second Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310009,China)

机构地区：[1]浙江大学医学院附属邵逸夫医院神经内科,杭州310000 [2]浙江医院重症医学科,杭州310012 [3]浙江大学医学院附属第二医院神经内科,杭州310009

出　　处：《中华医学遗传学杂志》2019年第10期957-960,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81571089,81371266,81600850);浙江省卫生厅项目(2018261205,2018250963).

摘　　要：目的对1个早发性帕金森病家系的PARK7基因进行变异分析,探讨其遗传学病因.方法利用纯合子定位结合cDNA测序对1个近亲结婚的早发性帕金森病家系进行遗传学分析.结果纯合子定位发现先证者基因组纯合区间有1个早发性帕金森病的候选致病基因(PARK7),PARK7的扩增测序结果显示存在c.56C>G(p.Thr19Arg)纯合错义变异,经检索HGMD数据库为未报道过的新变异,生物信息学分析提示该错义变异具有致病性.结论PARK7基因c.56C>G(p.Thr19Arg)纯合错义变异是该家系患者的致病变异,新变异的检出扩展了PARK7基因的变异谱.Objective To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.Methods Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.Results A homozygous missense variation(c.56C>G,p.Thr19Arg)in the PARK7 gene was identified in the patient.In silico analysis suggested the c.56C>G variation to be pathogenic.Conclusion Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.

关 键 词：早发性帕金森病 PARK7基因 纯合子定位 cDNA测序 

分 类 号：R742[医药卫生—神经病学与精神病学]