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目的探讨常染色体隐性遗传早发性帕金森综合征(autosomalrecessiveearly onset parkinsonism,AREP)parkin基因外显子重排突变情况。方法应用荧光半定量聚合酶链反应(PCR)方法对18个AREP家系进行parkin基因外显子重排突变分析。结果9个AREP家系含有parkin基因外显子重排突变,其中2个家系为外显子4纯合缺失,2个家系为外显子4杂合缺失,2个家系为外显子2杂合缺失,1家系为外显子3杂合缺失,1家系为外显子1杂合缺失,此外,1家系为外显子3和外显子4的复合杂合缺失。未见parkin基因外显子重复突变。结论我国AREP患者存在parkin基因外显子重排突变;parkin基因外显子重排突变可能是我国AREP患者的主要致病因素。
Objective To investigate the mutation of parkin gene exon in autosomal recessive early parkinsonism (AREP). Methods The mutations of parkin gene in 18 AREP families were analyzed by fluorescence semi-quantitative polymerase chain reaction (PCR). Results Nine AREP families contained an exon rearrangement mutation in parkin gene. Two of them were exon 4 homozygous deletion, two were heterozygous deletion of exon 4 and two were heterozygous for exon 2 One is heterozygous deletions in exon 3, one is heterozygous deletion in exon 1, and the other is heterozygous deletion of exon 3 and exon 4 in one family. No exon repeat of parkin gene was found. Conclusions There is an exon rearrangement mutation in parkin gene in patients with AREP in our country. Exon rearrangement mutation of parkin gene may be the main causative agent of AREP in our country.