中国新疆一个早发性帕金森病维吾尔族家系中PARK2基因的突变分析
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.
作者信息
Li Hongyan, Yusufujiang Aishanjiang, Naser Shaliya, Zhu Yi, Maimaiti Mayinur, He Xiaoyan, Bu Juan, Meng Xuegang, Wang Mingyuan, Li Jiang, Dina Baiting, Yang Lijuan, Nayi Zuhere, Dang Hui, Wang Chengfeng, Amiti Dilimulati, Aji Asiya, Yusufu Nazuke, Jiao Yan, Duan Fengmei
机构信息
The Xinjiang Clinical Medical College, An Hui Medical University, China; Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
出版信息
J Neurol Sci. 2014 Jul 15;342(1-2):21-4. doi: 10.1016/j.jns.2014.03.044. Epub 2014 Mar 31.
BACKGROUND
The PARK2 gene was recently identified as a causative gene for autosomal recessive early-onset Parkinson's disease (EOPD). Studies on how specific PARK2 mutations are manifested on different genetic backgrounds may benefit prognosis and clinical management. Until now, there have been no reports of PARK2 mutations in a Uyghur family with EOPD.
METHODS
We identified a large Uyghur EOPD family with PARK2 mutations, and analyzed genealogical, clinical, and genetic data from the family.
RESULTS
Three of 15 members were diagnosed with EOPD, and two point mutations, c.951G>C (p.G284R) and c.924C>T (p.R275W), were found in six family members. Among the mutation-positive members, the three affected members were compound heterozygote, while the three unaffected members were single heterozygote.
CONCLUSION
This is the first report describing a Uyghur family with PARK2 mutations. The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family.
背景
PARK2基因最近被确定为常染色体隐性早发性帕金森病（EOPD）的致病基因。研究特定PARK2突变在不同遗传背景下如何表现可能有助于预后和临床管理。到目前为止，尚无关于维吾尔族EOPD家系中PARK2突变的报道。
方法
我们鉴定了一个携带PARK2突变的维吾尔族EOPD大家系，并分析了该家系的系谱、临床和遗传数据。
结果
15名家庭成员中有3人被诊断为EOPD，在6名家庭成员中发现了两个点突变，即c.951G>C（p.G284R）和c.924C>T（p.R275W）。在突变阳性成员中，3名患病成员为复合杂合子，而3名未患病成员为单杂合子。
结论
这是首次报道一个携带PARK2突变的维吾尔族家系。复合杂合突变c.951G>C（p.G284R）和c.924C>T（p.R275W）是这个维吾尔族EOPD家系的致病因素。
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