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。     

Association between the arginine vasopressin receptor 1A (AVPR1A) gene and preschoolers’ executive functioning

Recent evidence implicates the arginine vasopressin (AVP) system in complex neuropsychological disorders which are characterized by deficits in executive functioning (EF). Despite the genetic contribution to EF, little is currently known about its molecular genetic basis. Drawing on research from social neuroscience and the role of related physiological systems in psychopathology, the current study hypothesized that variability in the AVP receptor 1a gene (AVPR1A) would be associated with EF in an epidemiological sample of 323 normally developing preschool-aged children. Using a family-based association design, the current study found that variability in the rs7298346 marker, located in the 5′-flanking region, was significantly related to a composite measure of EF in 4-year-old children after controlling for a variety of covariates and children’s theory of mind. The converse association between AVPR1A and theory of mind (after controlling for EF) was not significant, suggesting a level of specificity in this relationship. The results are discussed in terms of the difficulties faced by genetic association studies in teasing apart the behavioral phenotypes that characterize complex psychological diseases and the involvement of multiple physiological systems in human behavior.     

GENETIC AND REPRODUCTIVE TECHNOLOGIES IN THE LIGHT OF RELIGIOUS DIALOGUE

Since the gene splicing debates of the 1980s, the public has been exposed to an ongoing sequence of genetic and reproductive technologies. Many issue areas have outcomes that lose track of people's inner values or engender opposing religious viewpoints defying final resolution. This essay relocates the discussion of what is an acceptable application from the individual to the societal level, examining technologies that stand to address large numbers of people and thus call for policy resolution, rather than individual fiat, in their application. A major source of guidance is the “Genetic Frontiers” series of professional dialogues and conferences held by the National Conference for Community and Justice from 2002 to 2004. Genetic testing, human gene therapy, genetic engineering of plants and animals, and stem cell technology are examined. While differences in perspective on the beginning of life persist, a stepwise approach to the examination of genetic testing reveals areas of general agreement. Stewardship of life, human co‐creativity with the divine, and social justice help define the bounds of application of genetic engineering and therapy; compassionate care plays a major role in establishing stem cell policy. Active, sustained dialogue is a useful resource for enabling sharing of religious values and crystallization of policies.     

Duchenne型肌营养不良基因诊断技术的发展及其哲学评析

Duchenne型肌营养不良(DMD)是发病率较高的神经系统遗传病,其基因突变机制复杂,探索简便、准确的基因突变检测技术是DMD研究的热点之一.随着分子生物学的进展,DMD基因诊断技术不断发展,经历了DNA印迹杂交、聚合酶链反应、生物芯片、多重连接探针扩增等.其发展过程带给我们许多哲学思考.     

Beyond the Sociobiological Dilemma: Social Emotions and the Evolution of Morality

Is morality biologically altruistic? Does it imply a disadvantage in the struggle for existence? A positive answer puts morality at odds with natural selection, unless natural selection operates at the level of groups. In this case, a trait that is good for groups though bad (reproductively) for individuals can evolve. Sociobiologists reject group selection and have adopted one of two horns of a dilemma. Either morality is based on an egoistic calculus, compatible with natural selection; or morality continues tied to psychological and biological altruism but not as a product of natural selection. The dilemma denies a third possibility—that psychological altruism evolves as a biologically selfish trait. I discuss the classical treatments of the paradox by Charles Darwin ([1871] 1989) and Robert Trivers (1971), focusing on the role they attribute to social emotions. The upshot is that both Darwin and Trivers sketch a natural‐selection process relying on innate emotional mechanisms that render morality adaptive for individuals as well as for groups. I give additional reasons for viewing it as a form of natural, instead of only cultural, selection.     

人格研究中的行为遗传学取向的发展

人格的行为遗传学研究,是以研究遗传和环境的差异来解释人格的个体差异的程度为目的,为探讨遗传和环境在个体发展中的作用提供了新的研究途径。该文以天性和教养为突破口,紧紧围绕行为遗传学在人格研究领域的发展脉络:遗传力、环境、特定基因的研究,进一步探讨在个体人格发展过程中遗传和环境的交互作用的关系。     

CHRM2基因rs1824024多态性与青少年早期抑郁的关系

运用问卷法与DNA分型技术,以127名高和低抑郁组初中生为被试,考察CHRM2基因rs1824024多态性与青少年早期抑郁的关系,重点探讨负性生活事件、青少年性别与年级的调节作用。结果发现,CHRM2基因rs1824024多态性与女青少年的抑郁边缘显著关联,T等位基因携带者患高抑郁的风险较低,但该位点与男青少年的抑郁无关;在那些经历低水平负性生活事件的青少年中,T等位基因携带者患高抑郁的可能性边缘显著低于GG型基因携带者;rs1824024多态性与年级对青少年早期抑郁无显著交互作用。     

弥漫性大B细胞淋巴瘤预后因素探讨及IgH基因重排检测

为了探讨CD10、bcl-6蛋白表达与弥漫性大B细胞淋巴瘤(DLBCL)预后之间的关系及IgH基因重排检测在其诊断和鉴别诊断中的价值,我们采用免疫组化法观察CD10、bcl-6两种蛋白在DLBCL中的表达,半巢式PCR方法检测IgH基因重排。结果发现CD10、bcl-6蛋白阳性表达率分别为46.9%和65.6%,bcl-6阳性组预后较好。32例DLBCL中基因重排阳性率为78.1%。结论认为CD10、bcl-6蛋白表达与DLBCL预后有一定相关性,可作为判断DLBCL预后的参考指标。IgH基因重排检测在DLBCL疑难病例的诊断和鉴别诊断中有帮助。     

骨髓间充质干细胞移植治疗感音神经性聋的进展及评价

目前感音神经性聋缺乏直接有效的药物治疗措施,基因治疗及干细胞移植治疗为临床治疗提供新的思路。骨髓间充质干细胞具有异于其他干细胞的优点,耳蜗内移植后能起到基因治疗的目的,并有潜在的分化为内耳功能细胞的功能,但仍面临诸多尚待解决的问题。     

负性生活事件与青少年早期抑郁的关系：COMT基因Val158Met多态性与父母教养行为的调节作用

采用环境×基因×环境(E×G×E)研究设计, 以637名青少年为被试, 考察了负性生活事件、COMT基因Val158Met多态性和父母教养行为对青少年早期抑郁的影响。结果发现：负性生活事件对青少年早期抑郁具有显著正向预测作用, 且COMT基因Val158Met多态性和父亲积极教养行为在其中起调节作用, 但该调节作用仅存在于男青少年群体中：在携带Val/Val基因型的男青少年中, 当父亲积极教养行为水平较低时, 青少年的抑郁水平随负性生活事件的增多而显著上升, 当父亲积极教养行为水平较高时, 负性生活事件对抑郁无显著预测作用; 在携带Met等位基因的男青少年中, 上述交互作用不显著。