应用实时荧光定量PCR技术检测常染色体隐性遗传性早发型帕金森综合征的DJ-1基因外显子重排突变  

DJ-1 gene rearrangement mutation in patients with autosomal recessive early-onset parkinsonism using real-time PCR

作　　者：张海南[1,2] 肖彬[2] 聂利珞[2] 郭纪锋[2] 王春喻[1] 王磊[2] 何丹[2] 严新翔[2] 唐北沙[2] 

机构地区：[1]中南大学湘雅二医院神经内科,长沙410011 [2]中南大学湘雅医院神经内科,长沙410008

出　　处：《中南大学学报（医学版）》2010年第5期438-444,共7页Journal of Central South University ：Medical Science

基　　金：国家重点基础研究发展计划"973计划"(2006cb500700 );国家"863"高科技研究发展计划(2004AA227040; 2006AA02A408);国家自然科学基金(30570638; 30770735)~~

摘　　要：目的:建立应用实时荧光定量PCR技术(real-time polymerase chain reaction,real-time PCR)检测DJ-1基因外显子重排突变的技术平台,并应用该技术对常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early-onset Parkinsonism,AREP)DJ-1基因进行外显子重排突变分析。方法:应用实时荧光定量PCR分析方法,对22个AREP家系先证者和30个正常对照的DJ-1基因进行外显子重排突变分析。结果:本研究中获得了扩增效率和特异性均满意的DJ-1基因各编码外显子实时荧光定量PCR反应条件及各外显子引物;本组AREP患者未发现DJ-1基因的外显子重排突变。结论:建立了应用实时荧光定量PCR技术进行DJ-1基因外显子重排突变检测的技术平台;中国人群AREP患者DJ-1基因外显子重排突变可能罕见。Objective To establish a technique platform of DJ-1 gene exon rearrangement using real-time PCR and to analyze DJ-1 gene exon rearrangement mutation in patients with autosomal recessive early-onset Parkinsonism（AREP）.Methods Real-time PCR was used to analyze DJ-1 gene exon rearrangement mutation in 22 probands with AREP from unrelated Chinese Han families and 30 normal controls.Results We obtained satisfactory real-time PCR reaction conditions and primers of DJ-1 gene coding exons No exon rearrangement mutation in the DJ-1 gene is detected in this group.Conclusion We established platform of DJ-1 gene exon rearrangement using real-time PCR.Exon rearrangement mutation in the DJ-1 gene is rare in Chinese patients with AREP.

关 键 词：常染色体隐性遗传性早发型帕金森综合征 DJ-1基因 外显子重排突变 实时荧光定量PCR 

分 类 号：R450[医药卫生—治疗学] R742.5[医药卫生—临床医学]