荧光半定量PCR在散发早发性帕金森综合征parkin基因外显子重排突变分析中的应用

目的探讨散发早发性帕金森综合征（EOP）parkin基因外显子重排突变情况。方法应用荧光半定量PCR方法对61个散发EOP患者进行parkin基因外显子重排突变分析。结果4例患者发现含parkin基因外显子重排突变,其中一个外显子4未见PCR产物,考虑为外显子4纯合缺失突变,其他3个发现外显子2、外显子3和外显子4的正常化比值（NR）分别为0．47、0．52和0．49,分别考虑为外显子2、外显子3和外显子4的杂合缺失突变。本组患者中未见parkin基因外显子重复突变。结论我国散发EOP患者存在parkin基因外显子重排突变。

Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR

Objective 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). Methods fluorescence semi-quantitative PCR was used to analyze the exon rearrangements of parkin gene in 61 isolated patients with EOP. Results 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. Conclusion Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.