中国汉族帕金森病患者融合肉瘤基因的遗传分析。
Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease.
机构信息
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
出版信息
Parkinsonism Relat Disord. 2014 Jan;20(1):119-21. doi: 10.1016/j.parkreldis.2013.09.010. Epub 2013 Sep 19.
BACKGROUND AND PURPOSE
Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family. Because of the clinical overlap between ET and Parkinson's disease (PD), the role of FUS in an independent cohort of PD patients from China mainland was evaluated.
METHODS
The entire coding region of FUS in 508 Chinese Han patients with PD and the identified variants in 633 normal controls were evaluated. A variant was further screened in an additional 382 controls for the frequency in our population.
RESULTS
A novel variant c.696C > T (p.Y232Y) in 2 sporadic patients with PD and six variants (c.52C > A, p.P18T; c.52C > T, p.P18S; c.147C > A, p.G49G; c.291C > T, p.Y97Y; c.684C > T, p.G228G; c.1176G > A, p.M392I) without significant difference in genotypic and allelic distributions in our PD cohort were identified.
CONCLUSION
The FUS gene is not a genetic risk factor for PD in the population of Chinese Han ethnicity.
背景与目的
对一个大型特发性震颤（ET）家族进行外显子测序，发现融合肉瘤基因（FUS）中的一个新的无义突变（p.Q290X）是该家族的致病原因。由于 ET 和帕金森病（PD）之间存在临床重叠，因此评估了 FUS 在中国大陆独立的 PD 患者队列中的作用。
方法
评估了 508 例中国汉族 PD 患者的 FUS 全部编码区和 633 名正常对照中的鉴定变异，进一步在另外 382 名对照中筛选该变体在我们人群中的频率。
结果
在 2 例散发性 PD 患者和 6 例变体（c.52C > A，p.P18T；c.52C > T，p.P18S；c.147C > A，p.G49G；c.291C > T，p.Y97Y；c.684C > T，p.G228G；c.1176G > A，p.M392I）中发现了一个新的变体 c.696C > T（p.Y232Y），在我们的 PD 队列中，这些变体在基因型和等位基因分布上没有显著差异。
结论
FUS 基因不是汉族人群 PD 的遗传危险因素。
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