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Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia 期刊论文

编号：

441ec66b-129f-4565-a008-1889f1905542
作者：

Bi, Rui^[1,2];Tang, Jinsong^[3];Zhang, Wen^[1,2];Li, Xiao^[1,2,4];Chen, ShiYi^[1,2];Yu, Dandan^[1,2];Chen, Xiaogang^[3];Yao, YongGang(姚永刚)*^[1,2,5]
语种：

英文
期刊：

SCHIZOPHRENIA RESEARCH ISSN：0920-9964 2016 年 171 卷 1-3 期 (200 - 206) ; MAR
疾病分类：

其它感染性疾病
关键词：

Schizophrenia mtDNA Maternal inheritance Private variant Allotopic expression
摘要：

The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m. 15395 A>G and m. 8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m. 15395 A>G and m. 8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease. (C) 2016 Elsevier B. V. All rights reserved.
推荐引用方式
GB/T 7714：

Bi Rui,Tang Jinsong,Zhang Wen, et al. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia [J].SCHIZOPHRENIA RESEARCH,2016,171(1-3):200-206.
APA：

Bi Rui,Tang Jinsong,Zhang Wen,Li Xiao,&Yao Yong-Gang.(2016).Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia .SCHIZOPHRENIA RESEARCH,171(1-3):200-206.
MLA：

Bi Rui, et al. "Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia" .SCHIZOPHRENIA RESEARCH 171,1-3(2016):200-206.
数据来源自科睿唯安Web of Science核心合集
入库时间：

2021/11/8 16:42:32
更新时间：

2021/11/8 16:42:32

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