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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 technology platform for detecting exon rearrangement of DJ-1 gene by real-time polymerase chain reaction (real-time PCR) and to apply this technique to autosomal recessive early-onset Parkinsonism (autosomal recessive early-onset Parkinsonism, AREP) DJ-1 gene exon rearrangement mutation analysis. Methods: The real-time PCR method was used to analyze the exon rearrangement of DJ-1 gene in 22 AREP family probands and 30 normal controls. Results: In this study, we obtained the real-time fluorescence quantitative PCR reaction conditions and exon primers of DJ-1 gene with satisfactory amplification efficiency and specificity. No DJ-1 gene was found in this group of AREP patients Exon rearrangement mutation. Conclusion: A technique platform for detecting exon rearrangement of DJ-1 gene by real-time fluorescence quantitative PCR was established. Exon rearrangement mutation of DJ-1 gene in AREP patients may be rare in Chinese population.