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

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。

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

ObjectiveTo 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). MethodsReal 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.ResultsWe 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.