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

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.