基因多态性对情绪调节神经回路的影响

随着脑成像和基因分析等新技术手段的综合运用, 情绪调节的神经生物学基础研究有了很大进展。综述相关研究表明: 情绪调节的神经回路涉及背侧-腹侧前额叶、前额叶-杏仁核和皮层-边缘系统的相互作用, 这些神经回路受到5-羟色胺传运体(5-hydroxytryptamine transporter, 5-HTT)、儿茶酚转甲酶 (Catechol-O-methyltransferase, COMT)和色氨酸羟化酶2(Tryptophan hydroxylase 2, TPH2)等基因变异, 以及不同基因多态之间交互作用的影响。情绪调节神经回路的功能出现障碍将导致情绪疾病的产生。     

反社会行为潜在遗传因素的全基因组关联分析

反社会行为是一种受基因和环境共同影响的复杂性行为, 但单个基因如单胺氧化酶基因(MAOA)、5-羟色胺转运体启动因子基因(5-HTT)、儿茶酚-o-甲基转移酶(COMT)基因的影响并不能全面解释其产生的分子遗传机制。来自分子遗传学研究取向的方法—— 全基因组关联分析(genome-wide association study, GWAS), 把人类基因组中数以百万计的单核苷酸(SNPs)和复制数变异(CNVs)作为遗传标记, 在全基因组层面上, 开展多中心、大样本的关联研究, 经过反复验证来发现与外在表型相关的基因位点, 为进一步了解反社会行为复杂分子遗传机制提供了重要的线索。未来的研究应该通过科学的实验设计将精确的基因分型技术与心理、环境因素相结合, 实现对复杂性行为或特质的基因-心理-环境模型的成因性分析。     

非药物成瘾的遗传学和神经生物学机制研究述评

非药物成瘾又称“非物质相关性成瘾”或“行为成瘾”。特征性表现包括对成瘾对象的渴望、受损的冲动控制、对成瘾对象的耐受、撤退反应和高复发率等。目前发现的非药物成瘾类型包括病理性赌博、网络成瘾、购物成瘾、游戏成瘾、性瘾以及贪食等。非药物成瘾与药物成瘾在症状学上表现出很高的相似性且具有较高的共病率, 提示二者之间可能存在着共同的发病机制。从遗传学和神经生物学的角度探讨非药物成瘾的机制具有重要的理论价值和临床应用价值。家庭研究和双生子研究发现, 男性的病理性赌博和贪食障碍具有中度以上的遗传度。分子遗传学研究发现, 单胺能神经递质相关基因, 如5-羟色胺转运体基因、多巴胺受体基因和单胺氧化酶A基因等, 与非药物成瘾有关。神经影像学研究发现, 非药物成瘾者脑内负责奖赏,线索加工和冲动控制的神经通路活动性异于正常对照。未来研究需要进一步从多个角度入手, 探讨非药物成瘾与药物成瘾的共性和特性。     

一个参与者眼中的行为遗传学史上的里程碑

行为遗传学的历史,从横切面看,就好似一个由心理学、遗传学、生物学、进化论、人类学、人口学、生物统计、社会学以及法哲学等学科组合成的万花筒。任何一对学科的演进都呈正相关。虽然任何一对学科都不至于相互否定,但是,他们各自独特的历史和人物,又使得每一对学科并不完全相似     

A Population-Based Twin Study of Parentally Reported Tactile and Auditory Defensiveness in Young Children

  Some adults and children exhibit defensive behaviors to tactile or auditory stimulation. These symptoms occur not only in subsets of children with ADHD, autism, and Fragile X syndrome, but also in the apparent absence of accompanying disorders. Relatively little research explores the correlates and antecedents of sensory defensiveness. Using a population-based sample of 1,394 toddler-aged twins, mothers reported on tactile and auditory defensiveness, temperament, and behavior problems. The incidence of defensive symptoms was widely distributed, with some accumulation of cases in the extreme range. Girls were overrepresented in the extreme tactile defensiveness group. Both auditory and tactile defensiveness were modestly associated with fearful temperament and anxiety, but they were relatively distinct from other common dimensions of childhood behavioral dysfunction. Twin correlations for the full range of scores and concordance rates for the extremes suggested moderate genetic influences, with some indication that the tactile domain might be more heritable than the auditory domain.     

What Causes Specific Language Impairment in Children?

ABSTRACT— Specific language impairment (SLI) is diagnosed when a child's language development is deficient for no obvious reason. For many years, there was a tendency to assume that SLI was caused by factors such as poor parenting, subtle brain damage around the time of birth, or transient hearing loss. Subsequently it became clear that these factors were far less important than genes in determining risk for SLI. A quest to find "the gene for SLI" was undertaken, but it soon became apparent that no single cause could account for all cases. Furthermore, although fascinating cases of SLI caused by a single mutation have been discovered, in most children the disorder has a more complex basis, with several genetic and environmental risk factors interacting. The clearest evidence for genetic effects has come from studies that diagnosed SLI using theoretically motivated measures of underlying cognitive deficits rather than conventional clinical criteria.     

精子介导转基因技术的进展与争论

随着生物医学的不断发展,精子介导转基因技术正成为有希望的转基因方法。与其他基因转移方法相比,精子介导具有简单、高效、低廉、安全的特点。我们探讨精子结合外源DNA和DNA内化的分子模型,介绍精子介导转基因技术的改进方法,并指出存在的问题和伦理学争论,旨在推动该技术在生物技术领域的进一步发展。     

What gene-environment interactions can tell us about social competence in typical and atypical populations

Social competence is a complex human behaviour that is likely to involve a system of genes that interacts with a myriad of environmental risk and protective factors. The search for its genetic and environmental origins and influences is equally complex and will require a multidimensional conceptualization and multiple methods and levels of analysis. Behavioural genetic research can begin to address the fundamental yet complex question of how children develop social competence by uncovering the various influences on social development and disentangling variance due to multiple genes, environments and experiences. In this paper, we review the current status of research on sociability, face recognition, emotion recognition, and theory of mind (TOM)--well defined and measured constructs that are likely to be useful indices for detecting genetic and environmental influences on social competence. We also propose specific milestones as indices of further progress in the field: the development of an operational definition of the construct of social competence, the identification of social endophenotypes-psychological processes that are validly and reliably measured components of social competence, and improving specificity and homogeneity with regard to social endophenotypes within a population of study by employing 'extreme social phenotypes'. These efforts will lead to a better understanding of the specific contributions to the normal variation of social competence in the general population as well as to atypical social development.     

Learning Abilities and Disabilities: Generalist Genes, Specialist Environments

ABSTRACT— Twin studies comparing identical and fraternal twins consistently show substantial genetic influence on individual differences in learning abilities such as reading and mathematics, as well as in other cognitive abilities such as spatial ability and memory. Multivariate genetic research has shown that the same set of genes is largely responsible for genetic influence on these diverse cognitive areas. We call these "generalist genes." What differentiates these abilities is largely the environment, especially nonshared environments that make children growing up in the same family different from one another. These multivariate genetic findings of generalist genes and specialist environments have far-reaching implications for diagnosis and treatment of learning disabilities and for understanding the brain mechanisms that mediate these effects.     

肿瘤分子生物学行为与其影像表现关系的探讨

肿瘤基因表达与其影像表现有一定的相关性,为我们用无创的影像学方法显示肿瘤的生物学特征提供了可能。探寻肿瘤分子生物学特性与其影像表现的内在联系,以期对肿瘤浸润和转移做出正确的诊断,从而为临床选择治疗方案、判断疗效和评估预后等提供更多、更有价值的信息。