父母教养与MAOA基因rs6323多态性对学前儿童外化问题的共同作用

采用G×E交互作用的研究范式,以295名学前儿童（M=4.49）和其母亲、父亲作为研究对象,探讨母亲和父亲的教养方式与MAOA基因rs6323多态性对学前儿童外化问题行为的影响。结果发现：母亲、父亲教养方式和MAOA基因多态性对学前儿童外化问题行为的影响存在性别差异,预测男孩外化问题行为时,母亲和父亲教养方式的主效应显著,与MAOA基因多态性的交互作用不显著;在预测女孩外化问题行为时,父亲教养方式的主效应显著,母亲教养方式与MAOA基因多态性的交互作用显著,显著性区域分析发现,携带T等位基因的女孩更容易受到母亲消极教养的不利影响而产生更多外化问题行为,也更容易受到其积极教养的有利影响而减少外化问题行为,这一结果支持差别易感性理论模型。     

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors

Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood. Molecular analysis of this gene is achieved with both the polymerase chain reaction (PCR) and Southern blot techniques. PCR is faster and can determine the actual number of CGG repeats, which modifies genetic counseling substantially. However, for a sizeable percentage of women, PCR alone is not conclusive, and Southern analysis is necessary to complete the study. While this procedure takes longer, it is usually conclusive. Women who present for genetic counseling and carrier testing in the second trimester of pregnancy need this information quickly, and for them the turn-around time is paramount. It is critical that genetic counselors understand these methods so that they can educate their clients and facilitate appropriate follow-up.     

警惕啊!基因决定论

基因已经成为２０世纪遗传学中的一个关键词基因决定论也正在走近我们的生活本文从遗传学的角度阐述了基因决定论的种种不当之处,并且指出基因的作用与人类的生活方式密切相关,而人类的全部文明史就在于克服单纯的基因决定论所带来的局限。     

线粒体与认知老化

目前,心理学、生物学、社会学等多个学科都在关注认知老化。文章从生物学的角度,论述了线粒体和认知老化的关系;介绍了线粒体在数量、分布及其能量供应,Ca2+浓度的维持,引发神经细胞凋亡,及线粒体基因等几个方面对认知老化产生的影响;描述了老化过程中线粒体功能失常引起的认知障碍;从而,为后人对认知老化产生机制的深入研究提供一定的理论依据。     

Emotional Reaction to Fragile X Premutation Carrier Tests Among Infertile Women

Female fragile X premutation carriers are at ∼10-fold increased risk of premature ovarian failure (follicle stimulating hormone >40 mIU/mL, amenorrhea, age <40). A milder degree of premature ovarian aging (diminished ovarian reserve, where follicle stimulating hormone levels are typically 10–20 mIU/mL) results in infertility. Approximately 10% of fertility clinic patients have this diagnosis. A cohort of 20 women diagnosed with diminished ovarian reserve provided a blood specimen (confidential results), and completed structured questionnaires that assessed emotional reactions to potentially being a premutation carrier (pretest questionnaire, n = 20) and the posttest known carrier status (3 month follow-up questionnaire, n = 18 non-carriers). Responses were measured using 9-point scales, and analyzed with Fisher exact and Wilcoxon exact tests. While most participants did not view fragile X premutations as a serious medical condition, perceptions of seriousness were positively correlated with anger and regret about not knowing sooner of the potential association of these premutations with infertility. Overall, when women (pretest) imagined themselves as carriers, their self-esteem and Health Orientation Scale responses were unchanged with the exception of feeling more afraid (p = 0.004). Despite strongly wishing for negative test results, they were glad to know there might be a medical explanation for their infertility. Financial Support: This work was financially supported by a University of Virginia School of Medicine Research & Development Award.     

Emergence of an egocentric cue guiding and allocentric inferring strategy that mirrors hippocampal brain-derived neurotrophic factor (BDNF) expression in the Morris water maze

From insects to humans, successful navigation relies on retained representations of spatial relations. These representations are thought to depend on the hippocampal formation, particularly those that are independent of the navigator (allocentric representations). The Morris water maze is a simple and popular task often used to assess spatial navigation. But how animals navigate toward and retain information regarding the location of the goal in this task remains unclear. We provide a comprehensive account of how the water maze is accomplished behaviourally. Our findings suggest that animals solve the task using distal cues via an initial view-matching strategy that is supported by egocentric guidance. Through increased training, however, an emergence of an egocentric-guiding strategy combined with the animal’s greater ability to infer the hidden platform’s location (via allocentric extrapolation) emerges. We also demonstrate that behavioural changes, towards a more allocentric strategy, are reflected in increases in hippocampal brain-derived neurotrophic factor.     

Plasma BDNF is reduced among middle-aged and elderly women with impaired insulin function: Evidence of a compensatory mechanism

Brain-derived neurotrophic factor (BDNF) plays a regulatory role in neuronal differentiation and synaptic plasticity and has been linked to glucose regulation and cognition. Associations among plasma BDNF, cognition, and insulin function were explored. Forty-one participants with impaired insulin function (IIF), ranging from insulin resistance to type 2 diabetes mellitus (T2DM), were matched with 41 healthy controls on gender, age, education, and IQ. Participants received complete medical, neurological, psychiatric, and neuropsychological evaluations. IIF individuals had significantly lower plasma BDNF levels than controls, particularly females, and higher BDNF levels were associated with poorer explicit memory in IIF females, suggesting that higher levels within this group may reflect the body’s efforts to respond to damage. After accounting for age, education, and HbA1c, BDNF significantly predicted 13.1–23.5% of the variance in explicit memory in IIF women. These findings suggest that BDNF elevations within diseased groups may not always be a marker of health.     

血液肿瘤的基因治疗及伦理学问题

基因治疗是一种新的有希望的抗肿瘤治疗方法。本文首先简述基因治疗发展史,然后介绍目前尝试性用于血液系统肿瘤的反义核酸疗法、抑癌基因疗法、自杀基因疗法以及过继性免疫疗法等基因治疗方法,进一步阐述基因治疗在血液系统肿瘤患者中应用存在的伦理学问题。     

“人类所有的疾病都是基因病”吗

人类基因组图谱（HGP）研究大大加深了人们对疾病的理解。然而,作为人体这个复杂系统的一种非常态特征,疾病的发生不仅受遗传因素的影响,还受到身体内部其他因素以及自然环境、社会环境等外部因素的影响。所以,并不能简单地将所有的疾病都归结为基因病。     

COMT基因rs6267多态性与青少年期亲子亲合与冲突的关系：性别与父母教养行为的调节作用分析

采用基因－环境设计, 以208名初中生为被试, 系统考察COMT基因rs6267多态性与青少年期亲子亲合与冲突的关系, 以及性别与父母教养行为在其中的调节作用。结果显示rs6267多态性对亲子关系无显著主效应, 但其与亲子亲合、母子情绪冲突的关联模式在男女青少年群体中相反; rs6267多态性与父母积极教养行为对亲子关系无显著交互作用, 但其与母亲消极教养行为对母子冲突具有交互作用趋势。