“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。     

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。     

反社会行为的遗传基础:基因多态性和DNA甲基化

反社会行为是受遗传与环境共同影响的不良行为。分子遗传学和神经生物学的研究发现,基因以基因多态性和DNA甲基化的方式影响脑结构、功能及脑内神经递质的产生和释放,进而影响反社会行为的发生发展。本文从基因多态性和DNA甲基化两方面整理了5-HTT、MAOA、OXTR等8个候选基因与反社会行为的关联。并提出未来研究需进一步探讨基因、脑和神经递质对反社会行为的联合作用。同时,扩展多基因位点、基因多态性与DNA甲基化、积极环境与基因交互作用对反社会行为影响的研究,以全面探索反社会行为发生的遗传基础,进而更加有效的预防反社会行为。     

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。     

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.     

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。     

RNAi的曲折经历与发展

RNAi是当今分子生物学研究领域内最引人注目的技术之一.已经在植物、线虫、果蝇、锥虫甚至哺乳动物细胞中发现RNAi现象. RNAi同时也是体内抵御病毒入侵、抵抗外在感染和抑制转座子活动的一种重要保护机制.通过介绍RNAi 技术富有传奇色彩的诞生和发展过程以及它对分子生物学乃至整个生命科学界产生的巨大作用,认识到RNAi是多学科联合发展的结果.我们应该加强各学科之间的整合.     

MAOA基因T941G多态性与同伴侵害对男青少年早期抑郁的交互作用:COMT基因Val158Met多态性的调节效应

抑郁具有复杂的多基因遗传基础,然而既有研究大多采用单基因以及单基因-环境交互设计(G×E)考察抑郁的遗传机制。以757名男青少年为被试(初次测评时Mage=11.32岁,SD=0.49岁),采用多基因-环境交互(G×G×E)设计,本研究考察了MAOA(monoamine oxidase A,单胺氧化酶A)基因T941G多态性、COMT(catechol-O-methyltransferase,儿茶酚胺氧位甲基转移酶)基因Val158Met多态性与同伴侵害对青少年早期抑郁的影响。结果显示,MAOA基因T941G多态性与同伴侵害交互作用于青少年抑郁,同伴侵害仅显著正向预测G等位基因(而非T等位基因)青少年抑郁。而且,MAOA基因T941G多态性与同伴侵害的交互作用受到COMT基因Val158Met多态性的调节,上述交互作用仅存在于COMT Met等位基因而非Val/Val基因型携带者中。研究结果显示,抑郁的产生与个体差异存在多基因与环境间的复杂交互机制。     

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.     

Yesterday’s Child: How Gene Editing for Enhancement Will Produce Obsolescence—and Why It Matters

Despite the advent of CRISPR, safe and effective gene editing for human enhancement remains well beyond our current technological capabilities. For the discussion about enhancing human beings to be worth having, then, we must assume that gene-editing technology will improve rapidly. However, rapid progress in the development and application of any technology comes at a price: obsolescence. If the genetic enhancements we can provide children get better and better each year, then the enhancements granted to children born in any given year will rapidly go out of date. Sooner or later, every modified child will find him- or herself to be “yesterday’s child.” The impacts of such obsolescence on our individual, social, and philosophical self-understanding constitute an underexplored set of considerations relevant to the ethics of genome editing.