精神分裂症患者Ⅰ级亲属的STROOP执行功能研究

以往的遗传学研究发现精神分裂症是一种多基因遗传病,然而却未能发现确切的致病基因,疾病的遗传异质性和症状的复杂性是其主要的局限.寻找精神分裂症的内表型代替质量形状来进行遗传学研究可能克服这种局限性[1],并更好地反映疾病的特质,作为预测精神分裂症的指标.     

多巴胺系统基因功能多态性与精神分裂症

精神分裂症是一组病因未明的临床综合征,大量生理学和病理学证据支持了精神分裂症的多巴胺系统功能失调假说.家系分析、双生子和寄养子研究资料提示精神分裂症有明显的遗传背景,遗传度为60%～80%.分子遗传学研究提示精神分裂症是一个复杂的遗传性疾病,可能是由多个基因之间以及基因与环境之间的共同作用所致.从多巴胺系统有关的代谢酶、转运蛋白和受体基因上寻找导致精神分裂症的功能多态性并进行关联分析(候选基因法)是目前较好的策略之一.现将近年来关于多巴胺系统基因功能多态性与精神分裂症关系的研究综述如下.     

2型糖尿病的分子遗传学新进展

2型糖尿病是一种多基因遗传的复杂性疾病，其确切的分子遗传学机制目前仍不清楚，对与2型糖尿病的发生以及并发症的出现有关的最新分子遗传学基础作一综述．     

多巴胺系统基因功能多态性与精神分裂症

精神分裂症是一组病因未明的临床综合征,大量生理学和病理学证据支持了精神分裂症的多巴胺系统功能失调假说。家系分析、双生子和寄养子研究资料提示精神分裂症有明显的遗传背景,遗传度为60 %～80 %。分子遗传学研究提示精神分裂症是一个复杂的遗传性疾病,可能是由多个基因之间     

神经电生理测试与精神分裂症内表型

在遗传学中,表型是指一个或一组可被观察到的特征,有其特定的遗传基础,即基因型.由单个基因决定的表型通常符合孟德尔遗传学规律,即分离律和独立分配律.但是精神分裂症等疾病是复杂多因素疾病,与那些简单的符合孟德尔遗传规律的疾病不同,由此提出内表型的概念.多因素疾病的内表型,是指那些相互独立的、有各自特定遗传基础的标志,它们仅表现出多因素疾病的一部分特征.内表型有如下特点[1]:1.内表型在人群中与疾病相关联.2.内表型是可遗传的.3.内表型与疾病状态无关,无论疾病处于静止期还是活动期,它都在患者身上表现出来.4.在家族中,内表型和疾病共分离.5.患者的内表型在其家族亲属中的表现率也高于一般人群.通过对内表型的研究,可以识别精神分裂症的亚型,而这种亚型具有更多的遗传同质性.内表型可能受孟德尔遗传规律的影响,因此,通过较少的样本量便可以发现致病的突变基因.在临床研究中识别内表型,可以避免单凭症状的主观性,减少样本的异质性,有助于解释病因模式和从假定的多基因系统中寻找易感基因.另外,通过内表型来筛查精神分裂症发病的高危人群,对疾病的预防和治疗亦具有潜在价值.     

遗传学进展与职业病的预防(综述)

<正> 近年来,随着生物学的迅速发展,遗传学在各门学科中进展尤较突出。遗传学作为医学的基础学科,对疾病的诊断、治疗和预防意义十分重要。本文就遗传学进展与职业病预防的几个主要方面综述如下。一、生态遗传学1.慢乙酰化肝内 N-乙酰基转移酶活性受单基因的影响,该基因的差异使机体对许多重要的药物(如异烟肼等)的代谢,表现为慢乙酰化型或快乙酰化型。慢乙酰化型因血中药物浓度增加,常发生副作用。在职业病方面,已知     

精神分裂症相关基因的遗传学研究

本篇文章的研究目的是探究精神分裂症相关基因的遗传学研究。随着科技的发展,先进的科学技术也使得基因组范围内人们精神分裂症分子遗传学的认识越来越深入。根据原有的实验表明,精神分裂症患者若是同时患有孤独症和双相障碍等情况,那么这么患者很有可能存在多基因遗传和遗传交叠。本篇文章根据患者的实际情况以及系统生物学工具的运用,研究精神分裂症相关基因的遗传学特性,并根据实验的结论,发现精神分裂症在遗传过程中的种种现象,根据实际情况将研究的方法和模式不断地改进,从而给患者提供更加安全有效的治疗方法。     

遗传学在精神分裂症病因学研究中的作用

基因组范围的研究在改变着对精神分裂症分子遗传学的认识。罕见的拷贝数变异(主要是缺失和突变)和单核苷酸多态性一样与精神分裂症相关,有孤独症和双相障碍的精神分裂症患者存在多基因遗传和遗传交叠的情况。随着遗传积累和大量系统生物学工具的运用,最终将描绘出精神分裂症的遗传学特性,发现新的治疗方法。     

激光基因定位图

遗传学专家发现,为亨廷顿(Huntington)疾病基因和囊性纤维变性基因定位比较困难。但是一些更常见的遗传性疾病如糖尿病和精神分裂症的研究困难更大。数种基因和环境因素似在这些疾病的发生中起作用,因此难以找出特殊原因。现在,一种改进的基因定位图技术有希望简化这些疾病的研究过程,并且已经促使研究人员加深了对胰岛素依赖性糖尿病的理解。英国牛津大学的John A.Todd说:“我们首次证明Ⅰ型糖尿病(胰岛素依赖性糖尿病)是一种     

经典Wnt信号通路与精神分裂症

精神分裂症是一种重性精神病性障碍,病因和机制尚未明确,但目前普遍认为是由多个微效基因协同并与环境因素共同作用导致的疾病.由多基因组成的信号通路及通路间的相互作用在精神分裂症发病中可能起重要作用.与中枢神经系统发育和功能维持密切相关的经典Wnt信号通路近年来受到较多关注.许多针对Wnt信号通路与精神分裂症的关联研究均表明,精神分裂症患者细胞内Wnt信号通路异常.文章就目前针对经典Wnt信号通路在精神分裂症发病中潜在作用的相关研究作一综述.     

Genetics and epigenetics of Alzheimer's disease

Alzheimer's disease (AD) is a highly prevalent condition that predominantly affects older adults. AD is a complex multifactorial disorder with a number of genetic, epigenetic and environmental factors which ultimately lead to premature neuronal death. Predictive and susceptibility genes play a role in AD. Early-onset familial AD is a rare autosomal dominant disorder. Genome-wide association studies have identified many potential susceptibility genes for late-onset AD, but the clinical relevance of many of these susceptibility genes is unclear. The genetic variation by susceptibility genes plays a crucial role in determining the risk of late-onset AD, as well as the onset of the disease, the course of the AD and the therapeutic response of patients to conventional drugs for AD. The newer understanding of the epigenetics in AD has also been highlighted. Recent advances in genetics, epigenetics and pharmacogenetics of AD pose new challenges to the future management of AD.     

Integrative Omics Reveals Novel Genetic and Gene Regulatory Mechanisms Underpinning Schizophrenia

Schizophrenia is a debilitating brain disorder with a complex genetic architecture. Genetic studies,especially recent genome-wide association studies （GWAS）,have identified multiple variants （loci） conferring risk to schizophrenia. However,how to efficiently extract meaningful biological information from bulk genetic findings of schizophrenia remains a major challenge and it is a daunting task to decipher the pathological role of these risk variants in schizophrenia. There is a pressing need to integrate multiple layers of data from various sources,e.g. genetic findings from GWAS,copy number variations （CNVs）,association and linkage studies,gene expression,protein-protein interaction （PPI）,co-expression,expression quantitative trait loci （eQTL）,and Encyclopedia of DNA Elements （ENCODE） data,to provide a comprehensive resource to facilitate the translation of genetic findings into schizophrenia molecular diagnosis and mechanism study. To elucidate the genetic mechanisms of schizophrenia,we utilized integrative omics to systematically integrate multiple layers of data from diverse studies of schizophrenia. Several novel and pivotal schizophrenia risk genes have been identified
by using integrative omics,including CAMKK2,ZNF323,MKL1,GLT8D1 and etc. In addition, integrative omics also revealed the potential mechanisms of CNVs in schizophrenia susceptibility. Finally,based on comprehensive and systematic integration of multiple layers of data from various sources,we developed the SZDB database （http：//www.szdb.org/）,a comprehensive resource for schizophrenia research. Schizophrenia genetic data,gene expression data,network-based data,brain eQTL data,and SNP function annotation information were systematically extracted, curated and deposited in SZDB. In-depth analyses and systematic integration were performed to identify top prioritized schizophrenia genes and enriched pathways. Multiple types of data from various layers of schizophrenia research were systematically integrated and deposited in SZDB. In-depth data analyses and integration identified top prioritized SZ genes and enriched pathways. We further showed that genes implicated in schizophrenia are highly co-expressed in human brain and proteins encoded by the prioritized schizophrenia risk genes are significantly interacted. The user-friendly SZDB provides high-confidence candidate variants and genes for further functional characterization. More important,SZDB provides convenient online tools for data search and browse,data integration,and customized data analyses.     

Genetics of hypertension. Current status

Genetics of hypertension is complex with no known single gene playing a major role, but rather many genes each with mild effects reacting to different environmental stimuli contribute to blood pressure. The heritable component of blood pressure has been documented in familial and twin studies suggesting that 30%-50% of the variance of blood pressure readings are attributable to genetic heritability and about 50% to environmental factors. Early studies in hypertension identified specific enzymes, channels and receptors implicating sodium handling in the regulation of blood pressure including genes involved with the renin-angiotensin-aldosterone system controlling blood pressure and salt-water homeostasis, proteins in hormonal regulation of blood pressure (enzymes and receptors of the mineralo- and glucocorticoid pathways) and proteins coded by genes involved in the structure and/or regulation of vascular tone (endothelins and their receptors). The field of molecular genetics has revolutionized the study of hypertension by identifying single gene syndromes or Mendelian forms and several candidate genes for blood pressure variance. Genes have been localized to at least 20 chromosome regions. For example, recent genome-wide association studies (GWAS) of common genetic variants found 13 single nucleotide polymorphisms (SNPs) or variants in systolic and 20 for diastolic blood pressure readings representing different genes and genetic heterogeneity. Further understanding of the genetics of hypertension will require the use of advances in bioinformatics tools and genetic technology [e.g., SNP, exon and noncoding (micro) RNA arrays]. New approaches will allow for identification of not only single genes, but other interacting genes contributing to hypertension by merging multiple genetic data sets (structural and functional) from individuals with hypertension and development of new molecular targets for study and treatment.     

中国皮肤遗传病研究现状

目前因遗传导致的皮肤病有300多种,其中170多种单基因皮肤病已确定致病基因,近100多种单基因皮肤病和多基因皮肤病已经基因定位.近几年来我国皮肤遗传病研究也取得了飞速发展,如发现家族性多发性毛发上皮瘤和原发性红斑肢痛症的致病基因,成功进行了汉族人群银屑病和白癜风易感基因的定位,为搜寻其易感基因奠定了坚实基础.     

Prospects for neurology and psychiatry

Neurological and psychiatric illnesses are among the most common and most serious health problems in developed societies. The most promising advances in neurological and psychiatric diseases will require advances in neuroscience for their elucidation, prevention, and treatment. Technical advances have improved methods for identifying brain regions involved during various types of cognitive activity, for tracing connections between parts of the brain, for visualizing individual neurons in living brain preparations, for recording the activities of neurons, and for studying the activity of single-ion channels and the receptors for various neurotransmitters. The most significant advances in the past 20 years have come from the application to the nervous system of molecular genetics and molecular cell biology. Discovery of the monogenic disorder responsible for Huntington disease and understanding its pathogenesis can serve as a paradigm for unraveling the much more complex, polygenic disorders responsible for such psychiatric diseases as schizophrenia, manic depressive illness, and borderline personality disorder. Thus, a new degree of cooperation between neurology and psychiatry is likely to result, especially for the treatment of patients with illnesses such as autism, mental retardation, cognitive disorders associated with Alzheimer and Parkinson disease that overlap between the 2 disciplines.     

肝豆状核变性的系列研究

肝豆状核变性（ＷＤ）是一种较为常见的常染色体隐性遗传、铜代谢障碍性疾病。作者从８０年代初开展ＷＤ的研究，至今已对ＷＤ的临床表现、发病机理、病理改变、遗传学、诊断、治疗等各方面进行了系统研究，研究手段从临床总结开始，接着开展生化、病理、影像学研究，进而采用细胞培养、分子生物学等新技术，紧紧围绕患者早期诊断和杂合子检测这个中心，层层深入，取得了很大进展，尤其是在ＷＤ离体培养皮肤成纤维细胞模型和分子生物学研究方面已达到国际先进水平。     

Major advances in bipolar disorder

There have been major advances in clinical understanding and treatment of bipolar disorder over the past decade. Randomised controlled trials of pharmacological treatments and psychological interventions have shown that there are effective short-term and long-term treatments for the disorder. Despite advances in treatment, diagnosis is often delayed or mistaken, and many people who could benefit are not using the treatments available. Functional and symptomatic recovery from episodes of bipolar disorder is frequently less complete than previously considered, and disability is often profound. Although manic episodes are the distinguishing feature of bipolar disorder, it appears that depression is the predominant mood disturbance and that much of the functional impairment associated with bipolar disorder results from this. Comorbidity with anxiety disorders or substance misuse is common. Advances in genetics, brain imaging and basic pharmacology are starting to provide understanding of the complex causative processes.     

精神分裂症的神经炎性反应研究现状

精神分裂症是一种常见的精神障碍，目前机制未明。已有多种假说被相继提出，最早于20世纪80年代，有临床研究表明精神分裂症在外周以及脑内存在炎性反应的激活及免疫系统的失调，近些年来抗精神病药和抗炎药物的联合使用改善了精神分裂症患者相关症状，表明神经炎性反应在精神分裂症的发病中起到了一定作用。本文结合近年来研究，综述神经炎性反应对精神分裂症影响的研究现状。     

人类疾病基因定位常用的统计学分析方法

人类疾病,特别是多基因遗传病相关基因的定位,是目前医学遗传学和基因研究中的难点和热点。本文简要介绍疾病基因定位的几种常用分析方法,包括连锁分析法(参数法和非参数法)、关联分析和传递不平衡分析的基本原理和应用范围。     

Langerhans cell histiocytosis (histiocytosis X).

There has been a renewed interest in Langerhans cell histiocytosis in recent years due both to advances in basic research and to improvements in diagnostic and treatment approaches. In this article, we review the various aspects of the disease and the potential implications of these recent scientific researches for our understanding and management of the disorder.