TMEM230 mutation analysis in Parkinson's disease in a Chinese population
TMEM230 mutation analysis in Parkinson's disease in a Chinese population
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中国人群帕金森病TMEM230突变分析
DOI：
10.1016/j.neurobiolaging.2016.10.007
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发表时间：
2017-01-01
影响因子：
4.2
通讯作者：
Liu, Zhenhua
中科院分区：
文献类型：
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作者：
Yan, Weiqian;Tang, Beisha;Liu, Zhenhua
TMEM230突变被确定为北美人群中具有典型临床症状和Lewy体的帕金森病（PD）的遗传因素，并且在7个中国家庭中发现了高度流行的TMEM230突变c. 550_552delTAGinsCCCGGG （p.*184ProGlyext*5）。在本研究中，我们调查了TMEM230突变在中国PD患者和来自中国大陆的健康对照人群中的流行情况。我们对中国汉族人群（包括1235名PD患者和1252名健康对照）中TMEM230的所有外显子和外显子-内含子边界进行了测序。结果，我们在192例家族性PD先证者和1043例散发性PD患者中未检测到TMEM230的致病性突变。然而，我们确实在家族性PD病例中检测到同义变体c.357G> a p. Gly119Gly，在2例散发性PD患者中检测到30utr +3G>T变体。这些结果提示TMEM230突变可能不是中国家族性和散发性PD患者的共同遗传因素。(C) 2016 Elsevier Inc.版权所有。
Mutations in TMEM230 were identified as a genetic factor for Parkinson's disease (PD) with typical clinical symptoms and Lewy bodies in a North American population, and a highly prevalent TMEM230 mutation, c. 550_552delTAGinsCCCGGG (p.*184ProGlyext*5), was found in 7 Chinese families. In the present study, we investigated the prevalence of TMEM230 mutations in a large cohort of Chinese PD patients and healthy controls individuals from mainland China. We sequenced all exons and exone-intron boundaries of TMEM230 in Chinese Han population including 1235 patients with PD and 1252 healthy control individuals. As a result, we did not detect any pathogenic mutation of TMEM230 in 192 probands with familial PD or 1043 sporadic PD patients. However, we did detect a synonymous variant c.357G>A p. Gly119Gly in a case of familial PD and the 30 UTR+3G>T variant in 2 sporadic PD patients. These results suggested that TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients. (C) 2016 Elsevier Inc. All rights reserved.