中国神经再生研究（英文版）2010，Vol.5Issue(20)：1578-1582,5.DOI:10.3969/j.issn.1673-5374.2101.20.010
Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease
Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease
Yuancheng Bao 1Ting Guan 2Yuanxun Yu 3Huaizhou Jiang 4Changshui Fang 4Lijuan Chen4
作者信息
- 1. Department of Neurology,First Affiliated Hospital of Anhui Traditional Chinese Medical College,Hefei 230031,Anhui Province,China
- 2. Anhui Center for Medical Genetics,Hefei 230061,Anhui Province,China
- 3. School of International Education & Exchange,Anhui Traditional Chinese Medical College,Hefei 230031,Anhui Province,China
- 折叠
摘要
Abstract
The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson's disease.The detection of mutations in the PARK2 gene remains low.To investigate the role PARK2 gene mutations play in the pathogenesis of Parkinson's disease,30 Han Chinese patients with early-onset Parkinson's disease and 38 normal controls were studied to determine the sequence changes of 1,4,6 and 7 exon sections.In the 30 patients with Parkinson's disease,a heterozygous intron mutation(nt 119,G→G/A)in exon 1 was detected in one case;a homozygous intron mutation(nt 526500,T→C)between intron 3 and exon 4 in fourteen cases was found;a heterozygous intron mutation(nt 526607,G→G/A)between intron 3 and exon 4 was observed in eight cases;an exon 6missense mutation(nt 754317,C→C/T;codon 193,CGG→CGG/TGG;aa 193,Arg→Arg/Trp)in three cases was seen;and an exon 7 missense mutation(nt 941943,C→A/C;codon 272,CTC→CTC/ATC;aa 272,Leu→Leu/lle)was found in one case.These changes were not found in the normal population.The results indicated that the PARK2 exons 6 and 7 mutations are possibly pathogenic mutations,along with the intron 3-exert 4 and exon 1 mutations.PARK2 gene mutations are possible factors leading to the onset of Parkinson's disease.关键词
Parkinson's disease/PARK2 gene/DNA mutation/oxen/intronKey words
Parkinson's disease/PARK2 gene/DNA mutation/oxen/intron分类
医药卫生引用本文复制引用
Yuancheng Bao,Ting Guan,Yuanxun Yu,Huaizhou Jiang,Changshui Fang,Lijuan Chen..Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease[J].中国神经再生研究（英文版）,2010,5(20):1578-1582,5.
