Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exo

来源 :中华医学杂志(英文版) | 被引量 : 0次 | 上传用户:fiscar
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Background:Schizophrenia (SCZ) is a severe,debilitating,and complex psychiatric disorder with multiple causative factors.An increasing number of studies have determined that rare variations play an important role in its etiology.A somatic mutation is a rare form of genetic variation that occurs at an early stage of embryonic development and is thought to contribute substantially to the development of SCZ.The aim of the study was to explore the novel pathogenic somatic single nucleotide variations (SNVs) and somatic insertions and deletions (indels) of SCZ.Methods:One Chinese family with a monozygotic (MZ) twin pair discordant for SCZ was included.Whole exome sequencing was performed in the co-twin and their parents.Rigorous filtering processes were conducted to prioritize pathogenic somatic variations,and all identified SNVs and indels were further confirmed by Sanger sequencing.Results:One somatic SNV and two somatic indels were identified after rigorous selection processes.However,none was validated by Sanger sequencing.Conclusions:This study is not alone in the failure to identify pathogenic somatic variations in MZ twins,suggesting that exonic somatic variations are extremely rare.Further efforts are warranted to explore the potential genetic mechanism of SCZ.
其他文献
目的了解滨州市2013年流行性乙型脑炎(简称乙脑)疫情特征,为乙脑防控工作提供依据。方法采用描述性流行病学方法对滨州市2013年乙脑疫情资料进行统计分析。结果滨州市2013年
杨依挺,1940年出生于南安溪州美埔村。90年代参加“交通大学香港校友会”任秘书,副会长,会长。参加诗社,文化艺术研究会。2000年参加编辑出版“交通大学香港校友会60周年纪念
1病例摘要羊水栓塞是剖宫产术中严重的并发症,抢救难度大,死亡率高,现将本院近三年来3例典型病例报告如下。病例1,女21岁。以“停经9月余,双下肢浮肿20天”为主诉入院,查体:
王杨祖:水污染防治中的科学发展观rn污染防治目标应当更加切合实际.20世纪80年代,我们曾提出中国水污染可以5年控制、10年根治的目标,90年代又提出到2000年要使淮河水质变清,
Background:Diffusion-weighted imaging (DWI) with the intravoxel incoherent motion (IVIM) model has shown promising results for providing both diffusion and perf
目的调查巴东县土家族女性MTHFR、MTRR基因多态性分布特征。方法采用横断面调查研究方法,以巴东县人民医院做孕检的土家族女性139例为研究对象,采集口腔黏膜上皮细胞,提取基
目的通过研究杭州市7个景区泉水的感官指标、溶解性总固体、酸碱度以及微量元素含量,了解目前杭州市区泉水水质的现状。方法以杭州市区居民日常取水人次较多的景区泉水点为分
随着新课标的改革,人教版教材走进了初中数学课堂,虽然,新课改使得初中数学课堂教学较之以往有了很大的进步,但是初中数学课堂教学的有效性并没有显著提高,其效率已经成为衡
期刊
Background:Most previous neuroimaging studies have focused on the structural and functional abnormalities of local brain regions in major depressive disorder (M
污染减排工作开展情况rn责任分工 明确目标rn在与国家签订了“十一五”主要污染物总量削减目标责任书后,贵州省将减排责任进行了层层分解.2006年省政府与各市(州、地)政府(行