行为遗传学：从宏观到微观的生命研究

行为遗传学是在多门学科发展的基础上形成的一门交叉学科。从19世纪末期到现在,行为遗传学已跨入第三个世纪。从孟德尔单基因遗传定律到多基因系统与环境交互作用影响复杂的人类行为,从传统的计量遗传学研究到连锁、关联研究再到功能基因组学技术的应用,无论在思想体系还是研究方法上,行为遗传学都取得了突破性进展。尽管行为遗传学在阐明基因究竟怎样影响行为的道路上仍处于起步阶段,但毋庸置疑,这一学科的进步将有助于人类了解自身行为,减轻人类病痛,并最终推动整个社会健康发展。     

DNA

The authors predict that in a few years, many areas of psychology will be awash in specific genes responsible for the widespread influence of genetics on behavior. As the focus shifts from finding genes (genomics) to understanding how genes affect behavior (behavioral genomics), it is important for the future of psychology as a science that pathways between genes and behavior be examined not only at the molecular biological level of cells or the neuroscience level of the brain but also at the psychological level of analysis. After a brief overview of quantitative genetic research, the authors describe how genes that influence complex traits like behavioral dimensions and disorders in human and nonhuman animals are being found. Finally, the authors discuss behavioral genomics and predict that DNA will revolutionize psychological research and treatment early in the 21st century.     

Evolutionary developmental psychology: Current status and future directions

The field of developmental psychology is part of a continuum of disciplines, from cell biology to cultural anthropology, that are focused on understanding developing and potentially evolving phenotypes; the reciprocal interactions between genetics and experiences produce variation in developing phenotypes and this variation is the grist for evolutionary selection. The articles in this issue provide cutting edge and multidisciplinary analyses of developing and potentially evolving phenotypes in areas that are of central interest to developmental scientists, including mother–infant attachments, stress responses in children, social cognition, and life span development. The articles and other recent works signal the reemergence of developmental psychology as an evolutionarily informed, multidisciplinary field. In this view, it is not about nature versus nurture or biology versus psychology, it is about tackling difficult problems at multiple levels of analysis, each of which has something to contribute and none of which is sufficient in and of itself.     

行为遗传学研究之新进展

自上世纪80年代以来,行为遗传学取得了长足的进展。在定量遗传学方面,共享环境和非共享环境概念的引入深化了人们对环境作用的认识;对于环境和遗传关系,不仅认识到基因型-环境的交互作用可能存在三种形式,还揭示出遗传对环境测量的影响——基因型-环境的相关。分子遗传学作为新兴的研究途径,目前以寻找基因为主,将来则以认识基因如何工作为重。行为遗传学的发展前景将是定量遗传学和分子遗传学以行为基因组学为中心的整合。     

Assessing the Integration of Genomic Medicine in Genetic Counseling Training Programs

Medical genetics has entered a period of transition from genetics to genomics. Genetic counselors (GCs) may take on roles in the clinical implementation of genomics. This study explores the perspectives of program directors (PDs) on including genomic medicine in GC training programs, as well as the status of this integration. Study methods included an online survey, an optional one-on-one telephone interview, and an optional curricula content analysis. The majority of respondents (15/16) reported that it is important to include genomic medicine in program curricula. Most topics of genomic medicine are either “currently taught” or “under development” in all participating programs. Interview data from five PDs and one faculty member supported the survey data. Integrating genomics in training programs is challenging, and it is essential to develop genomics resources for curricula.     

Psychiatric Disorders in Clinical Genetics I: Addressing Family Histories of Psychiatric Illness

This is the first article of a two-part professional development series addressing genetic counseling for personal and family histories of psychiatric disorders. It is based on an Educational Breakout Session presented by the Psychiatric Special Interest Group of the National Society of Genetic Counselors at the 2006 Annual Education Conference. This article examines issues that arise in addressing family histories of psychiatric illness, while the second article in the series considers the generation and provision of individualized recurrence risks for psychiatric disorders. In this article we discuss the importance of managing uncertainty for affected individuals and their close family members who have been referred to genetics for a number of different indications. We then use four simulated cases to make recommendations about the scope and timing of discussions related to the psychiatric family history.     

Studies of higher nervous activity in functional psychoses

Psychiatric illnesses can be conceived of as experiments of nature, providing a variety of pathopsychological mechanisms which may elucidate normal psychological processes. Clinically the reactive psychoses are predominantly psychogenic reaction types. They present disturbances of higher nervous activity, similar to those of the neuroses. The unconditional reflex activity is practically as in normal controls, and the most outstanding finding was the large effect of psychodynamic complex structures. This is a physiological parallel to the clinical manifestations with great concern over experienced mental trauma. In the manic-depressive psychoses the most characteristic feature is a marked disturbance of unconditional reflex activity. This factor may be an important physiological mechanism underlying the more biological than psychodynamic reaction type and partly explain the changes of mood and associated interferences with sleep, body weight, sexual activity, aggression and other instinctual and vegetative functions. Schizophrenic psychoses also present changes of unconditional reflex activity, predominantly in the direction of inhibition of response. In addition there are severe dissociations within and between the three levels of unconditional reflexes and the two signaling systems. It is suggested that schizophrenia represents a functional maladaptation, which can be explained from the principles of autokinesis and schizokinesis established by Gantt in animal experiments. Prognostic models based on experimentally established impairment of performances were shown to predict long-term risks of schizophrenic defects just as well as models based on constellations of clinical symptoms. I would predict that psychophysiology and experimental psychology will become increasingly more important for establishing diagnosis and prognosis in the functional psychoses. The data of this article point toward a basis for a prophylactic psychiatry.     

Imprinted genes, cognition and behaviour

The idea that genes can influence behavioural predispositions and their underlying psychological determinants is becoming increasingly tractable. In this article, recent findings are reviewed on a special type of inheritance, related to the transmission of traits via what have been termed 'imprinted' genes. In imprinted genes one allele is silenced according to its parental origin. This results in the inheritance of traits down the maternal or paternal line, in contrast to the more frequent mode of inheritance that is indifferent to the parental origin of the allele. Drawing on the advances made possible by combining the approaches of cognitive neuropsychology, behavioural neuroscience and contemporary molecular genetics, the detailed evidence for imprinted effects on behavioural and cognitive phenotypes is considered, focusing on findings from mental disorders, Turner's syndrome and experimental work in animal models. As prevailing evolutionary theories stress an essential antagonistic role of imprinted effects, these data might link such apparently diverse issues as neurodevelopment and the vulnerability to mental disease with the 'battle of the sexes', as joined at the level of cognitive and behavioural functioning.     

Intelligence: genetics, genes, and genomics

More is known about the genetics of intelligence than about any other trait, behavioral or biological, which is selectively reviewed in this article. Two of the most interesting genetic findings are that heritability of intelligence increases throughout the life span and that the same genes affect diverse cognitive abilities. The most exciting direction for genetic research on intelligence is to harness the power of the Human Genome Project to identify some of the specific genes responsible for the heritability of intelligence. The next research direction will be functional genomics--for example, understanding the brain pathways between genes and intelligence. Deoxyribonucleic acid (DNA) will integrate life sciences research on intelligence; bottom-up molecular biological research will meet top-down psychological research in the brain.     

The genetics of gambling and behavioral addictions

Behavioral addictions are considered as the repetitive occurrence of impulsive behaviors without consideration of their potential negative consequences. These addictions represent an increasing cost to society and are an important new field of research in psychiatric genetics. There has been a growing body of evidence on the familial aggregation and genetic influences on the development of behavioral addictions and mainly on pathological gambling. The aim of this article is to critically review findings of family and molecular genetic studies on behavioral addictions, focusing on pathological gambling and commenting on other disorders where appropriate. This review provides a comprehensive approach to genetic studies on behavioral addiction and points out the necessity of expanding the genetic research in this field. Future directions for genetic studies in this field are also discussed.     

Biotech 101: An Educational Outreach Program in Genetics and Biotechnology

Recent advances in research and biotechnology are making genetics and genomics increasingly relevant to the lives and health of the general public. For the public to make informed healthcare and public policy decisions relating to genetic information, there is a need for increased genetic literacy. Biotech 101 is a free, short-course for the local community introducing participants to topics in genetics, genomics, and biotechnology, created at the HudsonAlpha Institute for Biotechnology. This study evaluated the effectiveness of Biotech 101 in increasing the genetic literacy of program participants through pre-and-post surveys. Genetic literacy was measured through increases in self-perceived knowledge for each content area covered through the course and the self-reported impact the course had on various aspects of participants' lives. Three hundred ninety-two individuals attended Biotech 101 during the first three course offerings. Participants reported a significant increase in self-perceived knowledge for each content area (p?相似文献   

Prospects for prenatal gene therapy in disorders causing mental retardation

Advances in understanding the genetics and pathogenesis of disease and in prenatal diagnosis have lead to an exploration of ways to intervene earlier and earlier in the disease process. The possibility of prenatal gene therapy for severe genetic and developmental disorders has sparked new research and debate as to its feasibility, reliability, and ethics as a therapeutic option. Recent animal studies have demonstrated the feasibility of introducing a vector into the developing fetus. The optimal timing and best mode of delivery, however, have yet to be defined. Whether or not this research should be pursued also has been the subject of recent bioethical debates. There is additional concern with the possibility of in utero gene transfer inducing mutagenesis and subsequent tumor formation. This review will provide a summary of the current state of knowledge in the field of prenatal gene therapy and possible directions for the future research.     

The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities

Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades have facilitated the emergence of a field called Behavioral Neurogenetics. Behavioral Neurogenetics focuses on studying genetic diseases with known etiologies that are manifested by unique cognitive and behavioral phenotypes. In this review, we describe the principles of magnetic resonance imaging (MRI) techniques, including structural MRI, functional MRI, and diffusion tensor imaging (DTI), and how they are implemented in the study of Williams (WS), velocardiofacial (VCFS), and fragile X (FXS) syndromes. From WS we learn that dorsal stream abnormalities can be associated with visuospatial deficits; VCFS is a model for exploring the molecular and brain pathways that lead to psychiatric disorders for which subjects with MR/DD are at increased risk; and finally, findings from multimodal imaging techniques show that aberrant frontal-striatal connections are implicated in the executive function and attentional deficits of subjects with FXS. By deciphering the molecular pathways and brain structure and function associated with cognitive deficits, we will gain a better understanding of the pathophysiology of MR/DD, which will eventually make possible more specific treatments for this population.     

Genetic influences on language impairment and phonological short-term memory

It has been known for some years that specific language impairment (SLI), an unexpected failure to acquire age-appropriate language skills, is highly heritable. However, molecular genetic studies have been hampered by the heterogeneity of the disorder and the predominant lack of clear genotype-phenotype relationships. We review recent studies suggesting that a better understanding of the genetics of SLI might emerge if we move away from clinical criteria for diagnosis to look instead at a theoretically based quantitative and cognitive measure of the phenotype: a test of phonological short-term memory (STM). Deficient phonological STM has been linked to specific genetic loci, and might play a role in determining some types of reading impairment as well as SLI. Identifying those cognitive deficits that work best as indices of heritable phenotypes will help us to uncover the aetiology of developmental disorders.     

‘Biologizing’ Psychopathy: Ethical,Legal, and Research Implications at the Interface of Epigenetics and Chronic Antisocial Conduct

Epigenetics, a field that links genetics and environmental influences on the expression of phenotypic traits, offers to increase our understanding of the development and trajectory of disease and psychological disorders beyond that thought of traditional genetic research and behavioural measures. By extension, this new perspective has implications for risk and risk management of antisocial behaviour where there is a biological component, such as psychopathy. Psychopathy is a personality disorder associated with repeat displays of antisocial behaviour, and is associated with the disproportionate imposition of harm on communities. Despite advances in our knowledge of psychopathic individuals, the construct remains complex and is hampered by a lack of integration across a range of fundamental domains. The clinical and forensic research on psychopathy is brought into conversation with the emerging field of epigenetics to highlight critical issues of (1) clinical definition and diagnosis, (2) assessment, (3) aetiology of psychopathic phenotypes, and (4) treatment and rehabilitation approaches. Broader ethical and legal questions of the role of epigenetic mechanisms in the management of psychopathy beyond the criminal justice arena are also outlined. Copyright © 2015 John Wiley & Sons, Ltd.     

How do personality disorders modify suicide risk?

There is a lack of psychological autopsy studies assessing the influence of axis II disorders on other risk factors for suicide. Therefore, we investigated if the estimated suicide risk for axis I disorders and socio-demographic factors was modified by personality disorders. Psychiatric disorders were evaluated by a semi-structured interview including the Structured Clinical Interview for DSM-IV Axis I (SCID-I) and Personality Disorders (SCID-II) by psychological autopsy method in 163 completed suicides and by personal interview in 396 population-based control persons. Personality disorders modify suicide risk, differently for affective disorders, substance use disorders, smoking, life events during the last three months, and socio-demographic factors such as being single. Estimated suicide risk for socio-demographic factors and life events is not substantially altered following adjustment for affective disorders or substance use disorders. These findings suggest that treatment of personality disorders is essential for suicide prevention.     

Developmental cognitive genetics: how psychology can inform genetics and vice versa

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.     

Developmental cognitive genetics: How psychology can inform genetics and vice versa

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.     

A functional theory of the McCollough effect

Pattern-contingent color aftereffects, or McCollough effects (MEs), are used to probe the visual brain's operations psychophysically. Their neural substrate is unknown, however, and theories about them are weak. Our theory proposes a strong functional role for MEs and a neuropsychological basis that accounts for "top-down" (global) constraints ignored by other theories. The functional aspect of the theory is based on the concept of contingent adaptation level, following Helson (1964), and on the "error-correcting device" of Andrews (1964), which tracks and adjusts internal representation to external-world contingencies. The neuropsychological part of the theory postulates that global properties are the result of MEs being generated not at the individual detector level but in vectorfields of which the detectors are elements. It is an implementation of Lie transformation group theory (Hoffman, 1966). Evidence for this model is assessed.     

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