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摘要： 光遗传学技术是目前神经科学中最重要的神经操控技术之一，几乎已成为现今神经科学实验的基本配备。此一技术包含光学和遗传学两个部分，利用遗传学的基因工程技术，在特定的细胞表现感光蛋白，再利用光学技术来操控细胞的活性。此一技术具备光学操控的即时性，及不同波长光源对细胞操控的多样性。遗传学的操控带来各种不同细胞及细胞结构的高度选择性。以神经系统而言，我们可以以毫秒的时间精度，刺激或抑制特定神经细胞的活性，甚至操控神经放电的频率及编码，而完全不影响到杂居在一起，但没有表现感光蛋白的神经细胞。这一技术的发现，大大增进了研究的精确度。因此技术，近年来对神经系统的了解，有跃进式的大进步。观察本篇文章中将会介绍光遗传学的历史、原理和应用。

关键词： 胶质瘤   表观遗传学   DNA甲基化   组蛋白修饰   染色质重塑   RNA修饰   表观遗传药物治疗  

摘要： 胶质瘤是原发中枢神经系统最常见的恶性肿瘤,侵袭性强、发病率高,治疗最为复杂且生存率低。目前,胶质瘤的治疗原则是以手术治疗为主,联合术后辅助放射治疗和化学治疗的综合治疗,但预后依然不乐观。神经胶质瘤的发展与DNA甲基化异常、非编码RNA异常、染色质重塑、组蛋白修饰、RNA修饰密切相关。经典遗传学主要关注胶质瘤DNA序列的变化,而表观遗传学不涉及DNA序列的改变。基因的表观遗传修饰具有可逆性,有可能成为胶质瘤的治疗靶点。本文主要就表观遗传修饰在胶质瘤发生、发展中的作用作一综述。

关键词： 股骨短小   遗传学检测   超声测量指标   股骨长度  

摘要： 目的:浅析股骨短小胎儿的超声测量指标与遗传学检测结果的关系。方法:回顾研究2015年6月—2019年12月暨南大学附属宝安妇幼保健院存档的66例产妇孕检资料,所有患者均接受超声及遗传学检查,基于检查结果差异,分为A、B、C三组,分别包括48例遗传学检查未显示异常儿、9例染色体变异儿、9例基因突变儿。统计所有受检儿的股骨长度(FL)、腹围(AC)、头围(HC),比较超声指标与遗传学检测结果间的关联性。结果:66例受检儿中有32例胎儿检出其他超声异常;其中48例为遗传学检查未显示异常儿(成功分娩者44例),基因突变儿、染色体变异儿各9例,皆引产。三组间FL/HC、FL/AC、Z_(FL)、△Z_(H-F)、△Z_(H+A-2F)水平比较,差异有统计学意义(P<0.05);其中FL/HC、FL/AC三项指标A组值最高,B组次之,C组最低,Z_(FL)、△Z_(H-F)、△Z_(H+A-2F)三项指标A组值最低,B组次之,C组最高。结论:基因突变儿、染色体变异儿的FL发育落后程度重于遗传学未显示异常儿;超声检查并评估胎儿股骨发育落后程度能够一定程度上反映胎儿遗传学异常的风险。

关键词： CN-AML   miR-195   Prognosis   Next generation sequencing   Chemotherapy  

摘要： Background Acute myeloid leukemia (AML) is a heterogeneous blood disease with poor treatment effect and high recurrence rate. With the deepening of non-coding RNA research, more and more miRNAs have been found to participate in various physiological processes of tumors. In this study, we tried to find the miRNA related to the prognosis of AML. Methods Collect gene expression data and clinical information of AML patients in the Cancer Genome Atlas database for statistical analysis. The expression level of miR-195 of each patient was standardized by logCPM and then produced as a box plot according to subtype classification. TargetScan was used to predict the target genes of miR-195, and these genes were subjected to GO pathway enrichment analysis by Metascape. Differential miRNAs were screened through the DESeq2 package in the R language. Survival rates were estimated using the Kaplan-Meier method and the log-rank test. The multivariate Cox proportional hazard models of EFS and OS were established. Results We found that the expression of miR-195 was the lowest in cytogenetically normal (CN-) AML, and high expression of miR-195 only promoted the prognosis of chemotherapy-only CN-AML patients (EFS: P = 0.016;OS: P = 0.035). Multivariate analysis showed that miR-195(high) was a favorable and independent factor for CN-AML (both P < 0.05). Further analysis showed that miR-195 may affect signal transduction through ANHAK2 in AML. Conclusion We found that high expression of miR-195 can increase prognosis time of chemotherapy-only CN-AML patients, providing a new possibility for treatment.

摘要： The purpose of this hermeneutic phenomenological study was to understand the lived experiences of Air Force intelligence professionals who decide to pursue a college degree. The study focused on the experiences of 10 current Air Force intelligence professionals who have completed an intelligence studies (or related) program and are currently serving in an intelligence operations group. The philosophical foundation used in this study was Heidegger's hermeneutic phenomenology, and the secondary theoretical framework that was applied was the expectancy-value theory, which provides the underlying constructs and propositions for how Air Force intelligence professionals make sense of their careers. Lived experiences of Air Force intelligence professionals were collected through interviews, document analysis, and focus groups. Explication was centered on generating interviews, synthesizing situated narratives into general narratives, and generating general descriptions that produced thematic analysis appropriate to hermeneutic phenomenology. This study focused on the gap regarding the unknown lived experiences of Air Force intelligence professionals' pursuit of higher education. Through the collection of data, the themes that were identified from the collection of interviews were Convenience and Transferability, Marketability, and Outlier Data and Findings.

摘要： Textbooks are used widely in classrooms all around the world. Some teachers treat their textbooks as the curriculum and plan their entire teaching according to the textbook. Hence, textbooks should meet the teaching needs of the teachers, while at the same time meeting the learning needs of students. This study aims to compare the genetics-related chapters of four selected biology textbooks widely used in Turkish classrooms: two used by the Ministry of Education (MoNE) and two used for the International Baccalaureate Diploma Programme (IBDP). The textbooks were evaluated according to the criteria published by Turkish Board of Education (TTKB). In addition, the online materials provided with the textbooks and introduction of Nature of Science (NoS) in these textbooks were investigated. The analysis was done on genetics-related chapters, using qualitative content analysis for data collection. The findings of the study showed that all four of the textbooks generally complied with the criteria, however there were some discrepancies. There were some scientific mistakes in both IBDP textbooks. Similarly, there were mistakes in the online materials provided by MoNE textbooks. Finally, the introduction of NoS was analyzed using a modified framework. The findings showed that none of the textbooks had balanced representation of NoS. Overall, none of the textbooks fully complied with the criteria. Thus, teachers and students should be mindful of the findings of this study when using these textbooks for their teaching and learning.

关键词： BOPPPS   医学遗传学   微课   教学改革  

摘要： 医学遗传学是高等医学教育的一门重要基础课程,是研究遗传病发生机理、遗传方式、诊断、治疗和预防的学科.如何体现以学生为中心,提高教学质量,是医学遗传学授课中亟待解决的问题.本文以"唐氏综合征"为例,基于BOPPPS教学模式进行微课课程设计,初步探讨该模式在医学遗传学教学改革中的效果.

关键词： Host–parasite interaction   Evolution   Ecology   Genetics   Immunology   Strategies   Integrative study   Diversity   Epidemiology   Host–parasite interaction   Evolution   Ecology   Genetics   Immunology   Strategies   Integrative study   Diversity   Epidemiology  

ISBN: (数字)9780191870873 ISBN: (纸本)9780198832140

摘要： Parasites are ubiquitous and shape almost every aspect of their hosts, including physiology, behaviour, life histories, the structure of the microbiota, and entire communities. Hence, parasitism is one of the most potent forces in nature and, without parasites, the world would look very different. The book gives an overview over the parasite groups and the diversity of defences that hosts have evolved, such as immune systems. Principles of evolutionary biology and ecology analyse major elements of host–parasite interactions, including virulence, infection processes, tolerance, resistance, specificity, memory, polymorphisms, within-host dynamics, diseases spaces, and many other aspects. Genetics is always one of the key elements in these topics. Modelling, furthermore, can predict best strategies for host and parasites. Similarly, the spread of an infectious disease in epidemiology combines with molecular data and genomics. Furthermore, parasites have evolved ways to overcome defences and to manipulate their hosts. Hosts and parasites, therefore, continuously co-evolve, with changes sometimes occurring very rapidly, and sometimes requiring geological times. Many infectious diseases of humans have emerged from a zoonotic origin, in processes governed by the basic principles discussed in the different sections. Hence, this book integrates different fields to study the diversity of host–parasite processes and phenomena. It summarizes the essential topics for the study of evolutionary parasitology and will be useful for a broad audience.