RAB39B gene mutations are not linked to familial Parkinson's disease in China.
RAB39B gene mutations are not linked to familial Parkinson's disease in China.
复制标题
RAB39B基因突变与中国家族性帕金森病无关
DOI：
10.1038/srep34502
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发表时间：
2016-10-03
影响因子：
4.6
通讯作者：
Guo JF
中科院分区：
文献类型：
--
作者：
Kang JF;Luo Y;Tang BS;Wan CM;Yang Y;Li K;Liu ZH;Sun QY;Xu Q;Yan XX;Guo JF
Recently, RAB39B mutations were reported to be a causative factor in patients with Parkinson’s disease (PD). To validate the role of RAB39B in familial PD, a total of 195 subjects consisting of 108 PD families with autosomal-dominant (AD) inheritance and 87 PD families with autosomal-recessive (AR) inheritance in the Chinese Han population from mainland China were included in this study. We did not identify any variants in the coding region or the exon-intron boundaries of the gene by Sanger sequencing method in the DNA samples of 180 patients (100 with AD and 80 with AR). Furthermore, we did not find any variants in the RAB39B gene when Whole-exome sequencing (WES) was applied to DNA samples from 15 patients (8 with AD and 7 with AR) for further genetic analysis. Additionally, when quantitative real-time PCR was used to exclude large rearrangement variants in these patients, we found no dosage mutations in RAB39B gene. Our results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population.
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DOI：
10.1212/nxg.0000000000000009
发表时间：
2015-06
期刊：
Neurology. Genetics
影响因子：
--
作者：
Lesage S;Bras J;Cormier-Dequaire F;Condroyer C;Nicolas A;Darwent L;Guerreiro R;Majounie E;Federoff M;Heutink P;Wood NW;Gasser T;Hardy J;Tison F;Singleton A;Brice A;French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC)
通讯作者：
French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC)
影响因子：
15.1
作者：
Mata IF;Jang Y;Kim CH;Hanna DS;Dorschner MO;Samii A;Agarwal P;Roberts JW;Klepitskaya O;Shprecher DR;Chung KA;Factor SA;Espay AJ;Revilla FJ;Higgins DS;Litvan I;Leverenz JB;Yearout D;Inca-Martinez M;Martinez E;Thompson TR;Cholerton BA;Hu SC;Edwards KL;Kim KS;Zabetian CP
通讯作者：
Zabetian CP
中国常染色体隐性早发性帕金森病的 PLA2G6 基因突变
影响因子：
9.9
作者：
Shi, C. -h.;Tang, B. -s.;Guo, J. -f.
通讯作者：
Guo, J. -f.
影响因子：
11
作者：
HUGHES, AJ;DANIEL, SE;LEES, AJ
通讯作者：
LEES, AJ
影响因子：
1.7
作者：
Cheng, H;Ma, Y;Mao, Y
通讯作者：
Mao, Y