| PARK1 gene mutation of autosomal dominant Parkinson’s disease family |
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| 引用本文： | 姜立刚,陈秋惠,张颖,胡馨予,范佳,刘立峰,郭睿,孙亚娟,张医芝,胡国华.PARK1 gene mutation of autosomal dominant Parkinson’s disease family[J].中国神经再生研究,2011,6(5):330-334. |
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| 作者姓名： | 姜立刚 陈秋惠 张颖 胡馨予 范佳 刘立峰 郭睿 孙亚娟 张医芝 胡国华 |
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| 作者单位： | 吉林大学白求恩第二医院神经内科,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Beihua University, Jilin 132011, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,Department of Neurology, Second Hospital of Jilin University, Changchun 130041, Jilin Province, China,吉林大学白求恩第二医院神经内科 |
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| 基金项目： | Supported by a Foundation of Science and Technology Department of Jilin Province, No. 200905152 |
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| 摘 要： | Studies have shown that PARK1 gene is associated with the autosomal dominant inheritance of Parkinson’s disease. PARK1 gene contains two mutation sites, namely Ala30Pro and Ala53Thr, which are located on exons 3 and 4, respectively. However, the genetic loci of the pathogenic genes remain unclear. In this study, blood samples were collected from 11 members of a family with high prevalence of Parkinson’s disease, including four affected cases, five suspected cases, and two non-affected cases. Point mutation screening of common mutation sites on PARK1 gene exon 4 was conducted using PCR, to determine the genetic loci of the causative gene for Parkinson’s disease. Gene identification and sequencing results showed that a T base deletion mutation was observed in the PARK1 gene exon 4 of all 11 collected samples. It was confirmed that the PARK1 gene exon 4 gene mutation is an important pathogenic mutation for Parkinson’s disease.
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| 关 键 词： | Parkinson’s disease family genetic PARK1 gene mutation neurodegenerative disease |
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