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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。
Objective To investigate the exon rearrangement mutations of parkin gene in patients with early-onset parkinsonism (EOP). Methods Sixty-one EOP patients with parkin gene were sequenced by fluorescence semi-quantitative PCR. Results Four patients were found to contain exon rearrangement mutations of parkin gene. One of them had no PCR product in exon 4, which was considered as homozygous deletion mutation in exon 4. The other three found exon 2 and exon 3 And normalized ratio (NR) of exon 4 were 0.47,0.52 and 0.49 respectively, which were considered as heterozygous deletions of exon 2, exon 3 and exon 4, respectively. This group of patients did not find parkin gene exon repeat mutations. Conclusions There is an exon rearrangement mutation in parkin gene in patients with EOP in our country.