CHRM3基因与孤独症谱系障碍

孤独症谱系障碍是一类具有遗传基础的儿童发展障碍疾病。近些年, 研究者们从分子病理学层面发现中枢胆碱能神经系统异常与孤独症患者认知和行为异常存在相关性。尸检研究、临床案例、动物模型研究均发现毒蕈碱型(M型)乙酰胆碱受体异常和孤独症的发生有着密切的关系。在以小鼠为模型的行为学研究中, 编码毒蕈碱型乙酰胆碱受体Ⅲ亚型的CHRM3基因突变会导致小鼠出现认知障碍、刻板行为等孤独症样表现。深入了解CHRM3基因的功能将能够帮助研究者进一步解释孤独症的相关行为特征, 为孤独症儿童教育方案的制定提供新的思路和方法。     

Maternal and infant characteristics connected to shared pleasure in dyadic interaction

The aim of the study was to analyze which maternal factors (depressive symptoms, effect of life events, maternal sensitivity and structuring) and infant characteristics (temperament, social withdrawal symptoms, interactive behavior, genotype, gender) contribute to shared pleasure (SP) in parent–infant interaction. Participants were 113 mother–infant dyads. The mothers filled in the Edinburgh Postnatal Depression Scale, the Infant Behavior Questionnaire, and the Life Events Questionnaire. The dyads were videotaped in a free-play situation, and the videos were analyzed using the Alarm Distress Baby Scale and the Emotional Availability Scales. The infants were genotyped for four genes involved in emotion regulation. The occurrence and duration of SP (SP-MD) in mother–infant interactions were analyzed from the videotapes. Higher maternal sensitivity and depressive symptoms, better infant responsiveness, and the infant having the GG variant of the gene tryptophan hydroxylase isoform 2 (TPH2) -307 were associated with the occurrence of SP. Lower level depressive symptoms, better maternal structuring, and greater infant involvement were associated with the longer duration of SP. Those dyads where the mother and infant were best able to read each other's positive cues and to respond to them were more likely to experience mutual positive affect, as seen in SP.     

ARE WE CLOSER TO FREE MARKET EUGENICS? THE CRISPR CONTROVERSY

Might the 2018 birth of two designer babies in China write the opening paragraph for the next chapter in the history of eugenics? The worldwide scientific community has tacitly put a moratorium on human clinical application of CRISPR gene editing, waiting until unknown risks can become known. But this ethical agreement has been breached, and calls are now being heard for more rigorous regulations. Perhaps religious and spiritual leaders can join the bioethical chant: the yellow light of caution is flashing.     

弯曲时空理论与生物体DNA双螺旋结构

对爱因斯坦的"弯曲时空"理论与生物体DNA双螺旋结构的相关性进行了哲理性思考:控制生命时间程序的生物钟基因编码及调控细胞分裂的正、负向基因对应表达的严格时间程序,在DNA双螺旋结构上可能具有"时空弯曲"的原理.地球上不同经纬度地区的时间流行病学特征应该具有相对同时性.     

浅析基因治疗临床试验中的"利益冲突"

基因治疗临床试验中的"利益冲突"问题多聚焦在如何规范利益冲突的不良后果上,却忽视了一些更基本的问题,如临床试验中的不同"利益",利益冲突的表现及防范等.以基因治疗为例,归纳了临床试验中的不同利益和利益冲突形式,并指出"公开经济利益安排"是解决冲突的基本对策.     

Freedom in responsibility: on the relevance of "sin" as a hermeneutic guiding principle in bioethical decision making.

This essay deals with questions of responsibility concerning technology, in particular, gene technology and the special problem of research on embryos. I raise issues concerning the extent of humans' authority to act and the limits of human freedom. In what way is that freedom given, and what kind of responsibility results from it? By discussing various concepts of human freedom in the tradition of European philosophy, as juxtaposed to the Protestant understanding of freedom, this essay discusses the restricting limits, and the obligation to take responsibility. It will turn out that the question concerning freedom cannot be answered without understanding what being human involves. From a Christian perspective, this implies that the foundational relationship between human freedom and sin will be central to an assessment of the human ability to take responsibility. By obliterating the limits of human freedom, sin jeopardizes the very essence of that freedom. The project of taking into account the sinful state of the human condition thus aims at developing a realistic picture of the authority of humans in action, even in view of the human tasks of promoting science and research.     

Risk Reduction Behaviors and Provider Communication Following Genetic Counseling and BRCA1 Mutation Testing in an African American Kindred

Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.     

系统视角下致癌基因与遗传背景的相互作用

肿瘤是当今人类生命健康的主要威胁之一。致癌基因与遗传背景和肿瘤的形成有密切关系。致癌基因与遗传背景,致癌基因与抗癌基因之间的时空结构和非线性作用都有可能使正常细胞恶变,导致肿瘤的形成。致癌基因与遗传背景实际上构成了细胞中的一个完整的遗传系统。本文试图用系统方法探讨两者的相互作用,以便更好地探讨肿瘤发生的机理和治疗手段。     

分离遗传与环境对儿童发展的影响：介绍一个新颖的研究方法

本文介绍一个可以用于研究遗传与环境互动的新颖方法。此研究收集了上千个4~10岁儿童的数据。这些儿童的出生都借助于不同的辅助受孕技术（Assisted Reproductive Technologies）,包括试管婴儿、精子捐赠、卵子捐赠、胚胎捐赠及代孕技术。本项目通过妇科（助孕）医院收集被试的行为数据,包括家庭互动、养育方式、父母婚姻质量、家庭成员的心理健康及经济状况等。本文选择性地介绍一些分析的结果,以彰显这种设计在分离遗传和产前产后环境对儿童发展的贡献。首先,我们比较了“助孕”儿童与“自然孕”儿童在父母冲突、父母对子女敌意以及儿童抑郁症状之间关系的异同。其次,我们比较了这两组儿童在父母抑郁症状、家庭关系质量以及儿童抑郁症状之间关系的异同。再次,本文介绍了这一可分离遗传与环境因素的研究设计。最后,我们讨论了这一设计对发展心理病干预及预防的意义     

炎症性肠病的基因学诊断

炎症性肠病（IBD）是一种涉及多基因的复杂疾病,传统的IBD的诊断方法是依靠病史和临床表现、结肠镜检、钡剂灌肠、病理检查及实验室检查等综合性诊断,但难以满足病因学及亚型分类,随着IBD易感基因的发现,采用血清免疫学和基因标志物来诊断和鉴别IBD与其他疾病以及评估临床病程及预后等成为可能。现将IBD易感基因以及临床应用作一综述。