Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease
Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease
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中国汉族帕金森病患者FBXO48基因遗传分析
DOI：
10.1016/j.neulet.2013.02.031
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发表时间：
2013-04-29
影响因子：
2.5
通讯作者：
Deng, Hao
中科院分区：
文献类型：
--
作者：
Xiu, Xiaofei;Song, Zhi;Deng, Hao
F-box only protein 48基因（FBXO48）位于帕金森病3型（PARK3）的致病基因位点2p13.3，是帕金森病15型（PARK15，又称帕金森-锥体病，PPD）的致病基因F-box only protein 7基因（FBXO7）的同源基因之一。为了确定FBXO48基因编码区的基因突变是否在PD的病因中起作用，我们筛选了350名中国汉族PD患者的DNA样本。在我们的PD队列中未发现FBXO48基因编码区突变，提示FBXO48基因编码区突变在PD的发展中作用很小或没有作用。2013爱思唯尔爱尔兰有限公司版权所有。
The F-box only protein 48 gene (FBXO48) is located in 2p13.3, the disease gene locus of Parkinson disease type 3 (PARK3), and it is one of the paralogs of the F-box only protein 7 gene (FBXO7), which is a causative gene of the Parkinson disease type 15 (PARK15; also known as Parkinsonian-pyramidal disease, PPD). To determine whether genetic mutation in the coding region of the FBXO48 gene plays a role in the etiology of PD, we screened DNA samples from 350 Chinese Han patients with PD. No mutation in the coding region of the FBXO48 gene was identified in our PD cohort, suggesting that mutations in the coding region of the FBXO48 gene play little or no role in the development of PD. (C) 2013 Elsevier Ireland Ltd. All rights reserved.