Guo Ji-feng, Tang Bei-sha, Li Jing, Zhang Yu-hu, Zhang Xue-wei, Chen Tao, Xia Kun, Yan Xin-xiang, Cao Li, Cai Fang, Pan Qian, Shen Lu, Jiang Hong
Department of Neurology, Xiangya Hospital, Central South University, Chansha 410008, China.
Zhonghua Yi Xue Za Zhi. 2006 Jun 6;86(21):1447-9.
To investigate the value of fluorescence semi-quantitative PCR in analysis of the exon rearrangement of parkin gene in Chinese patients with isolated early-onset parkinsonism (EOP).
fluorescence semi-quantitative PCR was used to analyze the exon rearrangements of parkin gene in 61 isolated patients with EOP.
Exon deletions in parkin gene were found in 4 of the 61 isolated patients with EOP. One of them failed to show the PCR product of exon 4 and had homozygous deletions of exon 4. The normalized ratios (NRs) of exon 2, exon 3, and exon 4 of the other 3 patients were 0.47, 0.52, and 0.49 respectively, showing that they had heterozygous deletions of exon 2, 3, and 4 respectively. No exon multiplication was found in this study.
Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.
探讨荧光半定量聚合酶链反应（PCR）在中国散发性早发型帕金森病（EOP）患者中分析帕金基因外显子重排的价值。
采用荧光半定量PCR分析61例散发性EOP患者的帕金基因外显子重排情况。
61例散发性EOP患者中，4例发现帕金基因外显子缺失。其中1例未显示外显子4的PCR产物，存在外显子4纯合缺失。另外3例患者外显子2、外显子3和外显子4的标准化比值（NRs）分别为0.47、0.52和0.49，表明他们分别存在外显子2、3和4的杂合缺失。本研究未发现外显子倍增现象。
中国散发性EOP患者存在帕金基因外显子重排。
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