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Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR
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- Author:
- No author available
- Journal Title:
- NATIONAL MEDICAL JOURNAL OF CHINA
- Issue:
- 21
- DOI:
- 10.3760/j:issn:0376-2491.2006.21.002
- Key Word:
- 帕金森病;帕金森氏障碍;基因
Abstract： 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.
- [1]张玉虎,唐北沙,郭纪锋,等.常染色体隐性遗传早发性帕金森综合征6型PINK1基因的突变分析[J].2005,(22).
- [2]唐北沙,严新翔,沈璐,等.帕金森病parkin基因的突变分析[J].2001,(12).
- [3]徐严明,刘焯霖,王玉凯,等.parkin基因的一个新的点突变[J].2002,(5).
- [4]王涛,梁直厚,孙圣刚,等.早发性帕金森病parkin基因的一个新的点突变[J].2003,(2).
- [5]Wood NW,Quinn N,Khan NL,etc.Parkin disease: a phenotypic study of a large case series.[J].2003,126(Pt.6).
- [6]Rudolph A,Shults C,Marder K,etc.Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.[J].2003,60(5).
- [7]Harhangi BS,Brice A,Bonifati V,etc.Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group.[J].2000,342(21).
- [8]Ozelius LJ,Schwinger E,Hedrich K,etc.The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.[J].2001,10(16).
- [9]A J Hughes,S E Daniel,L Kilford,etc.Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.[J].1992,55(3).
- [10]Christoph B, Lücking,Alexis, Brice.Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene.[J].2003,217.
- [11]Khan NL,Quinn N,Brooks DJ,etc.Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation.[J].2005,64(1).
- [12]Lang AE,Kann M,Abbruzzese G,etc.Distribution, type, and origin of Parkin mutations: review and case studies.[J].2004,19(10).
- [13]Durr A,Fraix V,Raskin S,etc.Parkin mutations are frequent in patients with isolated early-onset parkinsonism.[J].2003,126(Pt.6).