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.
出处
《中南大学学报(医学版)》
CAS
CSCD
北大核心
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)~~