Zhang Hainan, Xiao Bin, Nie Liluo, Guo Jifeng, Wang Chunyu, Wang Lei, He Dan, Yan Xinxiang, Tang Beisha
Department of Neurology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 May;35(5):438-44. doi: 10.3969/j.issn.1672-7347.2010.05.006.
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).
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.
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.
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.
建立利用实时荧光定量聚合酶链反应（real-time PCR）检测DJ-1基因外显子重排的技术平台，并分析常染色体隐性早发型帕金森病（AREP）患者中DJ-1基因外显子重排突变情况。
采用实时荧光定量聚合酶链反应分析来自中国汉族无关家系的22例AREP先证者及30例正常对照者的DJ-1基因外显子重排突变情况。
获得了满意的DJ-1基因编码外显子实时荧光定量聚合酶链反应反应条件及引物。该组中未检测到DJ-1基因外显子重排突变。
利用实时荧光定量聚合酶链反应建立了DJ-1基因外显子重排平台。在中国AREP患者中，DJ-1基因外显子重排突变罕见。
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