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The genetic architecture of autism spectrum disorders(ASDs) and the potential importance of common regulatory genetic variants

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Science China(Life Sciences) 2015年第10期58卷 968-975页

作者： david saffen Institutes of Brain Science Fudan University

Currently, there is great interest in identifying genetic variants that contribute to the risk of developing autism spectrum disor- ders （ASDs）, due in part to recent increases in the frequency of diagnosis of these disorders worldwide. While there is nearly universal agreement that ASDs are complex diseases, with multiple genetic and environmental contributing factors, there is less agreement concerning the relative importance of common vs rare genetic variants in ASD liability. Recent observations that rare mutations and copy number variants （CNVs） are frequently associated with ASDs, combined with reduced fecundity of individuals with these disorders, has led to the hypothesis that ASDs are caused primarily by de novo or rare genetic muta- tions. Based on this model, large-scale whole-genome DNA sequencing has been proposed as the most appropriate method for discovering ASD liability genes. While this approach will undoubtedly identity many novel candidate genes and produce important new insights concerning the genetic causes of these disorders, a full accounting of the genetics of ASDs will be incomplete absent an understanding of the contributions of common regulatory variants, which are likely to influence ASD liability by modifying the effects of rare variants or, by assuming unfavorable combinations, directly produce these disorders. Because it is not yet possible to identify regulatory genetic variants by examination of DNA sequences alone, their identitication will require experimentation. In this essay, I discuss these issues and describe the advantages of measurements of allelic expression imbalance （AEI） of mRNA expression for identifying cis-acting regulatory variants that contribute to ASDs.

关键词： common-disease-common-variant model common-disease-rare-variant model copy number variant (CNV) aUelic expression imbalance (AEI)

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The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region

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Neuroscience Bulletin 2015年第1期31卷 43-52页

作者： Yue Sun Yu Tao Jian Wang david saffen Institutes of Brain Science Fudan University School of Biological Sciences Fudan University Department of Cellular and Genetic Medicine School of Basic Medical SciencesFudan University Key Laboratory of Exploration and Utilization of Aquatic Genetic Resources Shanghai Ocean UniversityMinistry of Education Key Laboratory for Medical Neurobiology Fudan University

22q 11.2 deletion syndrome（DS） is a complex developmental disorder with a high incidence of psychiatric illnesses,including schizophrenia and mood *** studies have identified Guanine Nucleotide Binding Protein（G protein）Beta Polypeptide 1-Like（GNB1L）,located within the 1.5 Mbp 22q11.2 DS critical region,as a candidate liability gene for schizophrenia and bipolar *** this study,we used mRNA expression measurements in Han Chinese postmortem temporal cortex and linkage disequilibrium（LD） analysis to show that GNB1 L is regulated by a cis-acting genetic variant within the 3＇-region of the ***,this variant is located within an LD block that contains all of the common SNPs previously shown to associate with schizophrenia and bipolar disorder in Han Chinese and Caucasian *** to our expectations,re-analysis of previously published case-control study data in light of our mRNA expression results implies that the GNB1 L highexpression allele is the risk allele for schizophrenia and bipolar disorder in the Han Chinese population.

关键词： GNB1L schizophrenia linkage disequilibrium eQTLs cis-regulatory variants

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A new method for identifying common regulatory variants of neuropsychiatric disorder candidate genes

A new method for identifying common regulatory variants of n...

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： david saffen Institutes of Brain Science Key Laboratory for Medical NeurobiologySchool of Biological SciencesFudan University

Objective Allelic expression imbalance(AEI) assays are a sensitive method for detecting genetically regulated expression of mRNAs in human *** on these measurements,it is often possible to identify common regulatory variants that contribute to susceptibility to complex *** goal of this study is to develop a novel high-throughput AEI assay for measuring mRNA expression of neuropsychiatry disorder candidate genes in human *** In this study,we examined allele-specific mRNA expression for 71 candidate genes for schizophrenia,Alzheimer’s disease,and/or heroin addiction in 52 samples of postmortem human *** used gene-specific PCR primers to amplify short segments of cDNA that contain a "marker" single nucleotide polymorphism (mSNP) that permits mRNA transcribed from each genetic allele to be *** ligation to indexed adapters to allow the sorting of DNA sequences according to sample of origin,we carried out deep sequencing of the PCR products using next generation DNA sequencing technology(Illumina Genome Analyzer 2.0).AEI ratios for mRNA expression were calculated from the number of sequencing reads for each gene in each independent *** Among the 71 genes analyzed,54(76%) showed significant AEI in at least 10%of the *** logAEI ratios for each gene in increasing order produced AEI "population profiles" that were distinct for each gene/mSNP *** on mathematical modeling,we discovered that these population profiles yield important information about the number,location and contributions of cw-acting regulatory variants to mRNA *** We have developed a reliable and sensitive high-throughput method to analyze AEI of mRNA expression in human *** method has the capacity to measure 100- to 200-genes in 100 samples in a single *** is a suitable scale for investigating sets of complex disease candidate genes,such as genes that function in specific biological pathways t

关键词： neuropsychiatric disorder allelic expression imbalance next generation sequencing regulatory genetic variants

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数字化时代的医学教育模式探索——以神经精神疾病课程教学为例

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中国优生与遗传杂志 2023年第11期31卷 2366-2370页

作者：陈莉 david saffen 郭锋杨玲刘雯左伋复旦大学基础医学院细胞与遗传医学系上海200032

随着数字化技术的快速发展,高等医科教育在理论教学、临床实习和教材模式等方面,催生了一系列各具特色的数字化模式。本文通过分析数字化医学教学的优势和局限,梳理其与传统教学相结合的医学教学实践新模式和评价体系。并以医学高等院... 详细信息

随着数字化技术的快速发展,高等医科教育在理论教学、临床实习和教材模式等方面,催生了一系列各具特色的数字化模式。本文通过分析数字化医学教学的优势和局限,梳理其与传统教学相结合的医学教学实践新模式和评价体系。并以医学高等院校专业课程神经精神疾病为例,对数字化教学背景下的医学教学模式进行了有益的探索。

关键词：数字化教学神经精神疾病医学教育

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“下一代”生物信息数据技术在医学遗传学教育中的应用

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中国优生与遗传杂志 2014年第12期22卷 1-2页

作者：陈莉郭锋杨玲李锦燕王浩王勇波朱顺刘雯 david saffen 左伋复旦大学基础医学院细胞与遗传医学系上海200032

随着全球生物信息数据和技术的飞速发展,我国医学高等教育也应将"下一代"生物信息数据技术引入医学遗传学教育。本文探讨了前沿信息数据技术应用于医学遗传学教育的意义,可行性和初步尝试,以期为改革创新与完善医学遗传学教学模式和内容... 详细信息

随着全球生物信息数据和技术的飞速发展,我国医学高等教育也应将"下一代"生物信息数据技术引入医学遗传学教育。本文探讨了前沿信息数据技术应用于医学遗传学教育的意义,可行性和初步尝试,以期为改革创新与完善医学遗传学教学模式和内容,推动教学科研相长,培养具有全球研究视角的国际化人才提供有益的探索。

关键词：医学遗传学下一代测序基于案例的同伴合作学习

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全英文MOOCs翻转课堂混合教学的改革初探--神经精神疾病的遗传学机制课程建设

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中国优生与遗传杂志 2017年第3期25卷 1-3页

作者：陈莉郭峰杨玲王勇波朱顺李锦燕叶雯刘雯 david saffen 左伋复旦大学基础医学院细胞与遗传医学系上海200032

互联网和多媒体技术的飞速发展催生了慕课(MOOCs)、翻转课堂、同伴学习、混合教学等新教学理念。随着全球教学改革的数字化,开放化,远程化,我国高等教育也正积极顺应时代潮流将新型教育模式引入生物医学专业教育。本文探讨了将全英文MO... 详细信息

互联网和多媒体技术的飞速发展催生了慕课(MOOCs)、翻转课堂、同伴学习、混合教学等新教学理念。随着全球教学改革的数字化,开放化,远程化,我国高等教育也正积极顺应时代潮流将新型教育模式引入生物医学专业教育。本文探讨了将全英文MOOCs翻转课堂混合教学模式应用于生物医学传统课堂教学的意义,可行性和初步尝试,为改革创新与完善生物医学专业教学模式和内容,提高学生教学参与度,培养学生有效自主学习和团队协作能力,推动教学科研相长,培养国际化复合人才提供有益的探索。

关键词：慕课翻转课堂同伴学习混合教学

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