用巢式RT-PCR检测精神分裂症患者血液标本中HERV env基因

精神分裂症是一种复杂的大脑功能紊乱疾病,表现为认知、情绪、感官的失调,有研究认为遗传因素及环境因素对大脑发育成熟过程的影响与精神分裂症的发生有关.     

丰富环境在孤独症谱系障碍动物模型中的作用及机制研究进展

孤独症谱系障碍(autism spectrum disorder, ASD)是一种常见的高度遗传和异质性的神经发育障碍,临床特征包括社交障碍、兴趣狭窄、重复刻板行为、注意力缺陷、焦虑、抑郁和癫痫等,目前尚无治疗ASD核心症状的药物。基因-环境相互作用驱动大脑经验依赖性改变,从而改变认知、情感和行为等,通过新的环境体验与身体活动可以改善大脑功能。丰富环境(environmental enrichment, EE)是一种提供感觉、运动和社交刺激的非药物治疗方法,已应用于各类神经系统疾病的基础和临床研究中。研究显示丰富环境能够改善ASD儿童的自闭样行为,减轻ASD的核心症状,对ASD动物模型(包括基因遗传模型和调控环境因素模型)也能产生不同影响。本文综述了丰富环境影响大脑的潜在分子机制,并探讨其对不同ASD动物模型的突触结构功能及可塑性、树突棘发育和行为水平产生的影响及分子机制,为ASD相关疾病提供新的治疗策略和靶点。     

从宏观与微观的结合加深对疾病本质的认识——遗传流行病学简介

遗传流行病学的发展,从宏观与微观的结合上,使人们对疾病本质的认识日益深化。现代医学已从一元化的组织病理变化转到研究健康与疾病的复杂多维关系,既重视遗传基础,又关注环境因素;既强调健康与疾病的生物学关系,又重视环境、心理和行为的影响。一些传染病或激素失调症已证实与遗传有关,有的已进行准确的基因定位。肿瘤的发病与遗传有着直接或间接的关系,癌基因的发现表明肿瘤发生中遗传因素起决定性作用。曾认为完全由遗传因素决定的疾病,也离不开环境的影响;而环境因素导致的外伤等,已发现伤口愈合也与遗传基因密切相关。遗传流行病学汲取并综合了有关学科的成果和长处,建立了独具特色的研究方法,定量分沂遗传病及某些复杂性疾病的流行分布和发病机理,取得了重要的甚至突破性的进展,为临床治疗、人群监护、制定防治措施、建全保健制度,提供了科学依据和对策,有力地推动着现代医学的发展。     

“遗传与环境学术研讨会”征文通知

为了探讨环境因素对遗传变异的影响及基因工程对环境的影响 ,改善人类生存质量 ,中国遗传学会《遗传》编辑部与广东省遗传学会将于 2 0 0 1年 5月在人类最佳居住城市珠海举办“遗传与环境学术研讨会”。本次会议由广东省珠海市环保局、市教委协办 ,会议的主题是“生命·遗传·环境·教育”。欢迎遗传学、卫生学、环境科学及有关方面的教育工作者参加会议。　　 1 征文范围　 (1)遗传、环境与健康 ;(2 )转基因产品的安全性 ;(3)基因工程在环保中的应用 ;(4 )环境因素对基因表达调控的影响 ;(5 )理化诱变育种 ;(6 )环境诱变因素的致癌、致畸、…     

《自然-通讯》：痛觉敏感性并非全由先天决定

人的痛觉敏感性通常被认为主要是“天生”的，很难受后天影响而有所改变。但英国的一项新研究显示，生活方式和环境因素可通过“表观遗传”变化来改变基因表达。从而影响人们对疼痛的敏感性。     

“遗传与环境学术研讨会”征文通知

为了探讨环境因素对遗传变异的影响及基因工程对环境的影响,改善人类生存质量,中国遗传学会《遗传》编辑部与广东省遗传学会将于2001年5月在人类最佳居住城市珠海举办“遗传与环境学术研讨会”。本次会议由广东省珠海市环保局、市教委协办,会议的主题是“生命·遗传·环境·教育”。欢迎遗传学、卫生学、环境科学及有关方面的教育工作者参加会议。1. 征文范围（1）遗传、环境与健康;（2）转基因产品的安全性;（3）基因工程在环保中的应用;（4）环境因素对基因表达调控的影响;（5）理化诱变育种;（6）环境诱变因素的致癌、致畸、致突…     

“遗传与环境学术研讨会”征文通知

为了探讨环境因素对遗传变异的影响及基因工程对环境的影响,改善人类生存质量,中国遗传学会《遗传》编辑部与广东省遗传学会将于2001年5月在人类最佳居住城市珠海举办“遗传与环境学术研讨会”。本次会议由广东省珠海市环保局、市教委协办,会议的主题是“生命·遗传·环境·教育”。欢迎遗传学、卫生学、环境科学及有关方面的教育工作者参加会议。1征文范围　(1)遗传、环境与健康;(2)转基因产品的安全性;(3)基因工程在环保中的应用:(4)环境因素对基因表达调控的影响;(5)理化诱变育种;(6)环境诱变因素的致癌、致畸、致突变作用;(7)遗传学教育…     

双生子研究在阿尔茨海默病发病机制研究中的应用

对于复杂的遗传和环境因素所致的阿尔茨海默病,利用双生子研究(twin study)可以将遗传和环境因素的干扰减到最小,突显其遗传或环境的致病因素。本文就双生子研究在阿尔茨海默病研究中的作用进行了综述。     

牙齿发育不全的分子遗传学研究进展

牙齿发育不全是一类十分常见的人类颅面部发育异常.目前的研究表明,其病因与遗传因素、环境因素及后天因素都有关联.加之,牙齿发育的分子遗传学机制已然成为现代分子生物学的研究热点.本文就牙齿发育的简要过程、分子机制和牙齿发育不全的最新分子遗传学研究进展方面作一综述.     

双生子骨龄、身高及体重的研究

本文对307对同性别双生子的骨龄、身高和体重进行了研究。结果表明,骨龄、身高和体重均受遗传因素影响。遗传因素对不同年龄阶段的影响程度可能是不同的。长时间的不同环境因素对身高和体重的影响较骨龄更大。     

Effect of diet on the structure of animal personality

There is increasing interest in the proximate factors that underpin individual variation in suites of correlated behaviours. In this paper, we propose that dietary macronutrient composition, an underexplored environmental factor, might play a key role. Variation in macronutrient composition can lead to among-individual differentiation in single behaviours (‘personality’ ) as well as among-individual covariation between behaviours (‘behavioural syndromes’ ). Here, we argue that the nutritional balance during any life stage might affect the development of syndrome structure and the expression of genes with pleiotropic effects that influence development of multiple behaviours, hence genetic syndrome structure. We further suggest that males and females should typically differ in diet-dependent genetic syndrome structure despite a shared genetic basis. We detail how such diet-dependent multivariate gene-environment interactions can have major repercussions for the evolution of behavioural syndromes.     

Rearing Environment Affects the Brain Size of Guppies: Lab-Reared Guppies have Smaller Brains than Wild-Caught Guppies

Animals bred for captivity often have smaller brains and behave differently than their wild counterparts. These differences in brain size have been attributed to genetic changes resulting from, for example, inbreeding depression and pleiotropic effects of artificial selection for traits such as docility. A critical question, though, is whether these differences in brain size are due to plastic responses to the environment, not just genetic changes. We observed a large reduction in brain size in first generation, lab-reared female guppies compared with wild-caught ones (19% smaller telencephalon, 17% smaller optic tectum). We then reared first-generation, lab-born guppies in environments varying in spatial complexity and size in an attempt to isolate factors that might increase brain size and change temperament, but no significant differences in phenotype were observed. The results of these experiments show that, although the environmental factors responsible for the effect have not been found, even first generation lab-reared individuals can have smaller brains than wild individuals.     

Quantitative genetic analyses of complex behaviours in Drosophila

Behaviours are exceptionally complex quantitative traits. Sensitivity to environmental variation and genetic background, the presence of sexual dimorphism, and the widespread functional pleiotropy that is inherent in behavioural phenotypes pose daunting challenges for unravelling their underlying genetics. Drosophila melanogaster provides an attractive system for elucidating the unifying principles of the genetic architectures that drive behaviours, as genetically identical individuals can be reared rapidly in controlled environments and extensive publicly accessible genetic resources are available. Recent advances in quantitative genetic and functional genomic approaches now enable the extensive characterization of complex genetic networks that mediate behaviours in this important model organism.     

Drug addiction: the neurobiology of behaviour gone awry

Drug addiction manifests as a compulsive drive to take a drug despite serious adverse consequences. This aberrant behaviour has traditionally been viewed as bad "choices" that are made voluntarily by the addict. However, recent studies have shown that repeated drug use leads to long-lasting changes in the brain that undermine voluntary control. This, combined with new knowledge of how environmental, genetic and developmental factors contribute to addiction, should bring about changes in our approach to the prevention and treatment of addiction.     

Genetics of early cancer detection behaviours in Australian female twins.

Early detection of cervical and breast cancers is an important component of women's health strategy. Screening programmes, health professional interventions and preventive behaviours such as breast self-examination provide the means to this end. Our twin study sought to identify the relative influence of environmental and genetic factors on liability to early cancer detection behaviours, including use of cervical smear tests, mammograms, and breast examination. Additive genetic and random environmental effects models gave the best, most parsimonious fit to the data for each early cancer detection behaviour. The heritability of liability to Pap smear use was 66%, mammogram use 50%, breast examination by a doctor or nurse 38% and breast self-examination 37%. Genetic influences were behaviour-specific; there was no evidence for a common genetic influence on the four behaviours. Potential covariates investigated included age, amount of contact between co-twins, educational level and personality traits such as harm avoidance, novelty seeking, reward dependence, neuroticism, anxiety, depression, self-esteem, perceived control, interpersonal dependency and ways of coping. None were significant. The study was carried out before the implementation of national screening programmes with media campaigns to increase participation rates. Hence follow-up investigation, including data on regularity of behaviours, would be informative.     

The major histocompatibility complex and autism spectrum disorder

Autism spectrum disorder (ASD) is a complex disorder that appears to be caused by interactions between genetic changes and environmental insults during early development. A wide range of factors have been linked to the onset of ASD, but recently both genetic associations and environmental factors point to a central role for immune-related genes and immune responses to environmental stimuli. Specifically, many of the proteins encoded by the major histocompatibility complex (MHC) play a vital role in the formation, refinement, maintenance, and plasticity of the brain. Manipulations of levels of MHC molecules have illustrated how disrupted MHC signaling can significantly alter brain connectivity and function. Thus, an emerging hypothesis in our field is that disruptions in MHC expression in the developing brain caused by mutations and/or immune dysregulation may contribute to the altered brain connectivity and function characteristic of ASD. This review provides an overview of the structure and function of the three classes of MHC molecules in the immune system, healthy brain, and their possible involvement in ASD. ? 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.     

Genetic variability in two West Indian anoles (Reptilia, Iguanidae): relation to field thermal biology

Meristic and electrophoretic characters were used as independent estimators of genetic variability within populations of two West Indian Anolis lizard species. The species which uses flexible regulatory behaviours to maintain thermal homeostasis, A. roquet on Martinique, exhibited much less within-population electrophoretic variability than did the species which is behaviourally passive to changes in the thermal environment, A. gundlachi on Puerto Rico. The data suggest that the high genetic variability in A. gundlachi may be an adaptation to its coarse-grained perception of seasonal variation in the thermal environment, whereas A. roquet's low genetic variability may be adaptive because its flexible regulatory behaviours provide a temporally fine-grained perception of the thermal environment. Meristic characters did not demonstrate any interspecific difference in the amount of within-population genetic variability. Discordance in the results of the meristic and electrophoretic analyses suggest either that the two character sets sample dramatically different genetic phenomena or that environmental effects on the development of meristic characters render them unreliable as indicators of the genetic variability within geographically proximate populations.     

Cross-modal plasticity: where and how?

Animal studies have shown that sensory deprivation in one modality can have striking effects on the development of the remaining modalities. Although recent studies of deaf and blind humans have also provided convincing behavioural, electrophysiological and neuroimaging evidence of increased capabilities and altered organization of spared modalities, there is still much debate about the identity of the brain systems that are changed and the mechanisms that mediate these changes. Plastic changes across brain systems and related behaviours vary as a function of the timing and the nature of changes in experience. This specificity must be understood in the context of differences in the maturation rates and timing of the associated critical periods, differences in patterns of transiently existing connections, and differences in molecular factors across brain systems.     

Distinctive patterns of DNA methylation associated with Parkinson disease

Parkinson disease (PD) is a multifactorial neurodegenerative disorder with high incidence in the elderly, where environmental and genetic factors are involved in etiology. In addition, epigenetic mechanisms, including deregulation of DNA methylation have been recently associated to PD. As accurate diagnosis cannot be achieved pre-mortem, identification of early pathological changes is crucial to enable therapeutic interventions before major neuropathological damage occurs. Here we investigated genome-wide DNA methylation in brain and blood samples from PD patients and observed a distinctive pattern of methylation involving many genes previously associated to PD, therefore supporting the role of epigenetic alterations as a molecular mechanism in neurodegeneration. Importantly, we identified concordant methylation alterations in brain and blood, suggesting that blood might hold promise as a surrogate for brain tissue to detect DNA methylation in PD and as a source for biomarker discovery.