Genetic analysis of NUS1 in Chinese patients with Parkinson's disease
Genetic analysis of NUS1 in Chinese patients with Parkinson's disease
复制标题
中国帕金森病患者NUS1基因分析
DOI：
10.1016/j.neurobiolaging.2019.09.002
复制
发表时间：
2020-02-01
影响因子：
4.2
通讯作者：
Xu, Pingyi
中科院分区：
文献类型：
--
作者：
Chen, Xiang;Xiao, Yousheng;Xu, Pingyi
最近，NUS 1基因突变被报道与中国人群中的帕金森病（PD）相关。为了进一步研究NUS 1与散发性PD的关系，我们对494例PD患者和478例健康对照者NUS 1基因的所有外显子和外显子-内含子边界进行了测序。因此，我们在PD患者中未发现NUS 1的致病性突变。然而，我们检测到9个外显子变异，包括4个同义变异和5个非同义变异。致病性预测表明，2种新型非同义变体（c.432 T>G，c.86 G>C）可能是有害的。所有变异体均与散发性PD无显著相关性。提示NUS 1基因突变可能不是中国人散发性PD的常见遗传因素。(C)2019爱思唯尔公司All rights reserved.
Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants and 5 nonsynonymous variants. Pathogenicity predictions indicated that 2 novel nonsynonymous variants (c.432 T>G, c.86 G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD. (C) 2019 Elsevier Inc. All rights reserved.