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  

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

作　　者：郭纪锋[1] 唐北沙[1] 李静[1] 张玉虎[1] 张学伟[1] 陈涛[1] 夏昆[2] 严新翔[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：《中华医学杂志》2006年第21期1447-1449,共3页National Medical Journal of China

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基金资助项目(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);高等学校博士学科点专项科研基金资助项目(20020533024)

摘　　要：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 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.

关 键 词：帕金森病 帕金森氏障碍 基因 

分 类 号：R742.5[医药卫生—神经病学与精神病学]