Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease

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• 作者：Xiaofei Xiu^a ; Zhi Song^b ; Kai Gao^a ; Xiong Deng^a ; Yong Qi^c ; Anding Zhu^b ; Lina Gong^b ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com}
• 关键词：Parkinson disease ; FBXO48 ; PARK3 ; Coding region ; FBXO7
• 刊名：Neuroscience Letters
• 出版年：2013
• 出版时间：29 April, 2013
• 年：2013
• 卷：541
• 期：Complete
• 页码：224-226
• 全文大小：155 K

文摘

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.