应用荧光半定量聚合酶链反应方法检测常染色体隐性遗传早发性帕金森综合征parkin基因外显子重排突变分析  

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

作　　者：郭纪锋[1] 唐北沙[1] 夏昆[2] 严新翔[1] 张玉虎[1] 陈涛[1] 李静[1] 张学伟[1] 曹立[1] 蔡芳[2] 潘乾[2] 沈璐[1] 江泓[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中国医学遗传学国家重点实验室

出　　处：《中华神经科杂志》2006年第6期364-368,共5页Chinese Journal of Neurology

基　　金：国家"863"高技术研究发展计划基金资助项目(2004AA227040);国家"973"重点基础研究发展计划资助项目(2006cb500700);国家科技攻关计划基金资助项目(2004BA720A03;2002BA711A07-03);国家自然科学基金资助项目(30370515;30570638)

摘　　要：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 exon rearrangement of parkin gene in Chinese patients with autosomal recessive early-onset parkinsonism（AREP）. Methods Exon rearrangements of parkin gene were detected using semi-quantitative PCR in 18 families with AREP. Results Exon deletions in parkin gene were found in nine families with AREP . There were two families with homozygous deletions of exon 4, two with heterozygous deletions of exon 4, two with heterozygous deletions of exon 2, one with heterozygous deletions of exon 3, one with heterozygous deletions of exon 1 and one with heterozygous deletions of exon 3 and exon 4 in the nine families with AREP. No exon multiplications were found in this study. Conclusions There are exon rearrangements of parkin gene in Chinese patients with AREP. Exon rearrangements of parkin gene may be the main causative agent in patients with AREP.

关 键 词：帕金森障碍 聚合酶链反应 外显子 突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]