课程文献中心 更多>>

关键词： 难治性癫痫   遗传学病因   离子通道   受体门控通道  

摘要： 近年来随着高通量测序的运用,越来越多癫痫患者能被找到病因,其中遗传学病因占40%。目前已发现900多个基因与癫痫有关,大多涉及离子通道,针对病因治疗能达到标本兼治的目的。该文就难治性癫痫的遗传学病因研究进展进行了综述。

关键词： 光遗传学技术   光敏感蛋白   转子   离体实验   计算机模拟实验   心房颤动  

摘要： 光遗传学技术是将光控技术与遗传学技术相结合,通过将光敏感蛋白靶向表达在可兴奋细胞的细胞膜上,利用特定波长的光照实现对细胞、组织以及器官的精细调控。在心脏电生理领域中,终止心房颤动(简称房颤)发作是光遗传学的一个潜在应用,相较于传统的电复律治疗,光遗传学技术能够更为精确地对心肌异常放电区域进行干扰,在一定程度上降低了复律过程中心脏组织的损伤。转子是目前学术界广泛认可的房颤驱动灶,它是心肌组织中围绕着一个不可激发的核心而产生的一种杂乱无章的电活动。而光遗传学技术可以改变心肌细胞的兴奋性,进而使心肌细胞中的转子发生移位,当转子移位至不可兴奋的边界或者两个转子相互碰撞时可以终止房颤发作。在基础研究中,已经证实光遗传学技术可以有效终止离体和在体水平的房颤发作,而且在人体计算机模拟实验中也验证了光遗传学技术终止房颤发作的可行性,但目前光遗传学技术在人体试验中的研究比较少。相比于传统的治疗方法,光遗传学技术可以更加精准、持续地对心肌细胞的电活动进行调控,为房颤的复律治疗提供了一种新的选择。

关键词： 环状染色体   嵌合体   微缺失/微重复   遗传学   产前诊断  

摘要： 目的探讨2例21号环状染色体嵌合体胎儿的围产期临床表型和遗传学特征。方法选取2021年11月在厦门市妇幼保健院接受介入性产前诊断的2例胎儿为研究对象。收集2例胎儿的临床资料,应用常规G显带核型分析和染色体微阵列分析(CMA)对2例胎儿及其父母进行遗传学检测。结果胎儿1超声提示胎儿鼻骨未显示、室间隔缺损、永存左上腔静脉、三尖瓣轻度返流,染色体核型结果为46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9],CMA检测结果提示其染色体21q11.2q22.3区存在30.00 Mb片段的4拷贝,21q22.3区存在3.00 Mb片段的缺失。胎儿2超声提示鼻骨呈点状回声,核型为46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3],CMA结果提示其染色体21q22.12q22.3区存在5.10 Mb片段的4拷贝,21q22.3区存在2.30 Mb片段的缺失。结论2例21号环状染色体嵌合体的围产期表型与靠近染色体缺失断裂位点处的染色体片段重复相关,染色体核型分析联合CMA对于环状染色体的产前诊断和遗传咨询具有指导意义。

摘要： Understanding biotic changes through Earth's history has been the goal of paleobiology since the inception of the field. Advances in science and technology have progressed allowing us to reassess old questions and new questions that could have not been addressed without these new methods. Echinoderms (sea stars, sea urchins, etc.) appear in the fossil record during the early Cambrian and are still abundant in marine ecosystems today. This persistence through time has made echinoderms model organisms to answer questions about Earth's past and present. Despite this role as a model organism there are many questions that remain with respect to evolutionary history and biogeochemistry of echinoderms. The research herein therefore focuses on a combination of phylogenetics and geochemistry. First, I explore the phylogenetics of Paracrinoidea. Paracrinoidea is a clade of Paleozoic echinoderms that exhibit unusual morphologies. These morphologies have hindered our understanding of their phylogenetic relationships and character evolution. This study represents the first rigorous, quantitative phylogenetic analysis of Paracrinoidea. Both a phylogenetic hypothesis and phylomorphospace were generated to inform patterns seen in morphology with an evolutionary perspective. To explore echinoderm geochemistry, I examined major and minor element inclusion in echinoderm skeletal elements from four genera of modern echinoids from the Gulf of Mexico. These echinoids show measurable variation in skeletal composition which indicates a complex relationship between skeletal element growth rate and geochemical composition. These results help inform the utility of fossil echinoderms in geochemical studies and highlights the need for continued study of elemental incorporation in echinoderm skeletal elements. Finally, I explore the geochemistry of fossil echinoderms. Fossilization and diagenetic processes can alter the original chemistry of the fossilized skeletal elements and impact their util

关键词： 光遗传学   神经探针   多功能光纤  

摘要： 光遗传学融合了光学、遗传学与基因工程,以其高时空分辨率和细胞类型特异性两大独特优势克服了传统手段控制神经元活动的许多缺点,为神经领域提供了革命性的研究手段.光遗传技术的发展取决于功能化神经探针的开发.集成了光电多功能模块的多功能光纤探针具有体积小、生物相容性高等优势,可广泛应用于光遗传学中,成为该领域当下研究热点.首先,介绍了光遗传学用神经探针需具备的基本功能,神经探针的分类及集成式神经探针的制备工艺,其次,对应用于光遗传学的多功能光纤探针的国内外研究现状进行了综述,最后,讨论了光遗传学用多功能光纤目前存在的问题及可能的解决方案.

摘要： 通过高中生物学科的学习,不但能够让学生理解大自然中生物的发展规律,还可以加强学生的科学探究意识.在高中生物学科中,解题是学生学习的重要内容之一,在解题过程中可以让学生巩固所学的生物知识,还可以加强学生对生物知识的应用能力.遗传学知识在高中生物学科中占据了主要地位,但是就高中生物遗传学的解题现状来看,仍有一些问题导致学生解题效率难以提高.因此,高中生物教师应当优化遗传学知识习题,从而提高学生的解题效率.

摘要： This hermeneutic phenomenological study aimed to describe and understand the experiences of online co-teaching through the perspectives of general education and special education co-teachers at the middle school level during the COVID-19 pandemic. This study followed Bandura's social cognitive theory, emphasizing self-efficacy and reciprocal determinism as it explains how people think, feel, motivate themselves, and behave. The study answered the following overarching research question: How do co-teachers perceive their ability to implement all-online learning during the COVID-19 pandemic The school setting for this study is Sunny County Public Schools (pseudonym), a suburban public school district in East Georgia. The researcher used individual interviews, focus groups, and journal prompts to triangulate the data. A cross-case and thematic analysis organized the findings of the co-teachers' descriptions into themes to analyze each perspective during the pandemic. Three themes emerged from the data: building relationships, collaborating effectively, and adapting to the virtual environment. The study provides valuable insights into the opportunities and recommendations for improving virtual co-teaching practices, with implications for school districts and co-teachers. Future research is recommended to explore further the impact of virtual co-teaching on teacher self-efficacy, collaboration, and student achievement.

关键词： 病例分析式教学   案例教学法   医学遗传学   遗传咨询  

摘要： 病例分析式教学法是案例教学法的变形,是结合医学遗传学教学特点进行的一次改革尝试。本文以哈尔滨医科大学2018级临床“5+3”一体化专业学生进行分组教学,探讨在医学遗传学教学中进行病例分析式教学的效果。调查问卷和试卷成绩分析结果表明,病例分析式教学不能明显提高试卷卷面成绩(P>0.05)。对医学遗传学的教学需要多元方法相结合,才能更好地培养学生遗传学思辨能力。

关键词： 基因变异   发育性和癫痫性脑病   OMIM数据库   精准治疗  

摘要： 发育性和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是一组临床和遗传异质的年龄依赖性神经系统疾病,其特征是在婴儿期或儿童早期出现难治性癫痫发作,且受影响的个体有精神运动发育迟缓或倒退。随着二代测序技术的发展,尤其是全外显子测序技术的应用,越来越多的基因被发现与DEE相关。这些发现将为临床工作中DEE致病基因的检测提供依据,同时将有助于加深对DEE发病机制的理解。本文主要对DEE的遗传学病因及诊疗的相关研究进展展开综述,以期帮助临床医生早期识别相关基因突变,从而加快疾病诊断并及时实施最佳治疗。