Suppr超能文献

在精神分裂症不一致的双胞胎对中未能证实拷贝数变异具有病因学意义。

Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.

作者信息

Ono Shinji, Imamura Akira, Tasaki Shinya, Kurotaki Naohiro, Ozawa Hiroki, Yoshiura Koh-ichiro, Okazaki Yuji

机构信息

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.

出版信息

Twin Res Hum Genet. 2010 Oct;13(5):455-60. doi: 10.1375/twin.13.5.455.

Abstract

Copy number variations (CNVs) are common structural variations in the human genome that strongly affect genomic diversity and can play a role in the development of several diseases, including neurodevelopmental disorders. Recent reports indicate that monozygotic twins can show differential CNV profiles. We searched CNVs in monozygotic twins discordant for schizophrenia to identify susceptible loci for schizophrenia. Three pairs of monozygotic twins discordant for schizophrenia were subjected to analysis. Genomic DNA samples were extracted from peripheral blood lymphocytes. We adopted the Affymetrix Genome-Wide Human SNP (Single Nucleotide Polymorphism) Array 6.0 to detect copy number discordance using Partek Genomics Suite 6.5 beta. In three twin pairs, however, validations by quantitative PCR and DNA sequencing revealed that none of the regions had any discordance between the three twin pairs. Our results support the hypothesis that epigenetic changes or fluctuation in developmental process triggered by environmental factors mainly contribute to the pathogenesis of schizophrenia. Schizophrenia caused by strong genetics factors including copy number alteration or gene mutation may be a small subset of the clinical population.

摘要

拷贝数变异(CNVs)是人类基因组中常见的结构变异,它强烈影响基因组多样性,并可能在包括神经发育障碍在内的多种疾病的发生发展中起作用。最近的报告表明,同卵双胞胎可能表现出不同的CNV谱。我们在患精神分裂症的同卵双胞胎中搜索CNVs,以确定精神分裂症的易感基因座。对三对患精神分裂症的同卵双胞胎进行了分析。从外周血淋巴细胞中提取基因组DNA样本。我们采用Affymetrix全基因组人类SNP(单核苷酸多态性)阵列6.0,使用Partek Genomics Suite 6.5 beta检测拷贝数不一致情况。然而,在三对双胞胎中,通过定量PCR和DNA测序进行的验证表明,三对双胞胎之间没有任何一个区域存在不一致情况。我们的结果支持这样一种假说,即环境因素引发的表观遗传变化或发育过程中的波动主要导致了精神分裂症的发病机制。由包括拷贝数改变或基因突变在内的强遗传因素引起的精神分裂症可能只是临床患者中的一小部分。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验