课程文献中心 更多>>

关键词： 数字课程   云平台   遗传学   互动教学   有效措施  

摘要： 本文主要简单介绍了数字课程云平台的构建,通过对遗传学课程答疑互动专区实践结果进行分析,来探讨数字课程云平台辅助遗传学互动教学的有效措施,旨在充分发挥现代科学技术的作用,利用网络教学平台的优势,来开展具有个性化的教学,为学生解答学习过程中的疑惑,提高学生的学习效率,保障教学质量,从而改变传统的较虚方式,实现教学效益最大化。

关键词： ABO血型系统   CisAB亚型   糖基转移酶   流式细胞术   等位基因  

摘要： 目的探讨1个cisAB09亚型家系的ABO血型血清学特征与分子遗传学机制。方法选取2022年2月2日于厦门大学附属中山医院输血科进行ABO血型鉴定的1个cisAB09亚型家系为研究对象。采用常规ABO血型血清学检测方法对先证者及其家系成员ABO血型进行鉴定,采用血浆A和B糖基转移酶活性测定方法测定先证者及其母亲血浆中A和B糖基转移酶活性强度,采用流式细胞术检测先证者红细胞表面A、B抗原表达情况。抽取先证者及其家系成员外周静脉血样,提取基因组DNA后,对ABO基因第1~7外显子及其侧翼内含子进行测序,并对先证者及其母亲和大女儿ABO基因第7外显子进行Sanger测序验证。结果常规ABO血型血清学检测结果提示,先证者及其母亲和大女儿ABO血型初步判断为A2B表型,先证者妻子及其小女儿为O型。血浆A和B糖基转移酶活性测定结果提示,先证者及其母亲B糖基转移酶活性滴度分别为32、256,分别较A1B表型阳性对照活性滴度(128)低与高。流式细胞术检测结果显示,先证者红细胞表面A抗原表达数量减少,B抗原表达数量未见异常。ABO基因测序结果显示,先证者及其母亲和大女儿在ABO*B.01等位基因基础上,第7外显子发生c.796A>G变异,导致B糖基转移酶第266位氨基酸由甲硫氨酸变为缬氨酸,符合ABO*cisAB.09等位基因的特征。先证者及其大女儿ABO基因型为ABO*cisAB.09/ABO*O.01.01,先证者母亲为ABO*cisAB.09/ABO*B.01,先证者妻子及其小女儿为ABO*O.01.01/ABO*O.01.01。结论ABO*B.01等位基因c.796A>G变异导致B糖基转移酶第266位甲硫氨酸变为缬氨酸,是产生cisAB09亚型的分子遗传学基础,ABO*cisAB.09等位基因编码的糖基转移酶,可在红细胞表面合成正常水平B抗原和较低水平A抗原。

关键词： 化学遗传学   神经环路   抑郁症   神经调控  

摘要： 抑郁症是一种常见的精神疾病,主要表现为情绪低落、思维迟缓、失眠和快感缺失等,严重者可出现自杀的念头和行为。其发病机制尚不明了,前沿科学研究普遍表明其发病机制与神经环路及相关脑区的功能异常有关。化学遗传学操控技术通过受体的设计,利用外源配体激活设计受体来调节神经元活性,从而对不同类型的神经元和相关环路进行特异性调控。目前,该技术在抑郁症的发病机制研究中应用十分广泛。与传统药理学手段相比,化学遗传学操控技术可以增强细胞类型的时空调控,更精确的解析抑郁症背后的神经环路。本文主要简述化学遗传学操控技术在抑郁症神经环路中的发展与应用,阐明了在该技术支持下,相关脑区如腹侧被盖区、伏隔核、前额叶皮质、海马等及相关环路在抑郁症发病机制中的作用,讨论了化学遗传学操控技术作为一种精控神经活动的技术在未来研究中的潜力和挑战。

关键词： 躯体疾病   躯体症状   焦虑障碍   就诊病人   诊断标准   心血管疾病   综合医院   临床实践  

摘要： 在临床实践中,焦虑障碍与躯体疾病的共病现象比较常见,我国综合医院就诊病人中符合焦虑障碍诊断标准者达8.6%,终身患病率达9.3%[1],而焦虑障碍者中躯体症状的患病率高达83.0%,可涉及全身各个系统或器官。焦虑情绪越严重的病人,其躯体症状的发生率也越高[2]。Purves等[3]研究发现,焦虑症的遗传度约为26%,焦虑与失眠、心血管疾病等躯体疾病呈显著的遗传正相关。

关键词： 产出导向法   医学遗传学   教学方法   教学效果  

摘要： 目的探讨产出导向法(production-oriented approach,POA)在医学遗传学课程教学中的应用效果。方法选取杭州医学院2020级和2021级四年制卫生检验与检疫专业93名学生为研究对象。采用试验对照研究方法,将2021级48名学生设为试验组,采用POA教学方法;将2020级45名学生设为对照组,采用传统教学方法。两组学生教学均为32学时。教学结束后,比较两组学生的平时成绩、实验成绩、期末考试成绩和总成绩;同时,对两组学生进行问卷调查,了解两组学生对各自教学方法应用效果的评价。结果试验组学生平时成绩、实验成绩、期末成绩和总成绩均高于对照组学生,其差异均具有统计学意义(均P<0.05)。调查结果表明,试验组学生在“课前学习资源丰富”“学习目标清晰明确”“课堂教学生动有趣,知识点易于理解”“教学内容不限于课本,注重知识点迁移”“积极参与课堂互动,气氛活跃”“增强自主学习的兴趣”“加深对课程内容的理解与认识”“提高文献检索与阅读能力”“提高碎片时间学习能力”等方面的评价均优于对照组学生,其差异均具有统计学意义(均P<0.05)。结论将POA教学方法应用于医学遗传学课程教学中,可以显著提高学生的综合成绩和教学效果满意度,值得推广应用。

关键词： 面条菜   形态学   食(药)用价值   遗传学   生物学特性   栽培技术   开发利用  

摘要： 从形态学、食(药)用价值、遗传学、生物学特性、栽培技术、开发利用六方面对面条菜相关科学研究进行了系列而简要的综述,以期推动面条菜资源调查、科学研究及引种栽培等工作的深入开展。

关键词： 化学遗传学技术   精神疾病   DREADD技术   GPCRs   神经环路  

摘要： 精神疾病具有机制复杂、复发率高等特点,一直是重大的医学和社会问题。在精准医疗方针的指导下,化学遗传学技术通过精确调控特定类型神经元或神经胶质细胞,为精神疾病中神经环路机制的研究模式带来重大变革,在探寻和证实精神疾病背后的神经生物学机制、药物作用靶点及新的治疗方法等方面具有不可或缺的作用。本文重点阐述了化学遗传学技术DREADD(designer receptors exclusively activated by designer drugs)在焦虑和抑郁障碍、睡眠觉醒障碍、创伤后应激障碍、药物成瘾等精神疾病机制研究中的应用,并对该技术今后的临床转化进行了展望。

摘要： Biomechanical operation of axonemal dynein motors requires high ATP concentrations; however, the source of this high-energy molecule was not yet known in sperm of the viral vector mosquito, Culex pipiens. Proteomic analysis of Culex sperm identified glycogen phosphorylase, ATP synthase beta subunit, and arginine kinase as relatively abundant. Quantification of glycogen consumption following sperm activation by trypsin revealed an increase in catabolism from aerobic to anaerobic respiration. A glycogen phosphorylase inhibitor reduced glycogen consumption in a dose-dependent manor, but its effect on sperm velocity was complex. Inhibition of glycolysis significantly reduced velocity at all time points and extracellular glucose was not necessary until 10 minutes. Inhibition of the electron transport chain also significantly reduced velocity at all time points without a significant difference upon extracellular glucose removal. Arginine kinase inhibition produced significant velocity reduction after 10 minutes. Additionally, extracellular calcium was confirmed to be both necessary and sufficient for sustained flagellar motility-and forward sperm velocity robustly increased at 2 minutes when a membrane-permeant cAMP derivative was introduced. These results suggest that trypsin activation of Culex sperm requires the mobilization of glycogen stores for aerobic respiration providing the energy necessary for axonemal function.

摘要： Increasing tree cover is a promising natural climate solution to reduce carbon under the pressing global warming. Seed dispersal is a key process in natural forest regrowth, where seeds are moved away from parent plants to establish new growth. Dispersal modes include biotic and abiotic methods, and vary depending on traits such as seed shape, size, and color. However, globally, data on seed dispersal modes of plant species is limited, hindering our understanding of the importance of wild animals in increasing tree cover and their role in carbon sequestration. The research goal of this study is to find a method to predict unknown seed dispersal modes with high accuracy by comparing a novel deep learning method with a typical phylogenetic imputation method. Here we show that the phylogenetic imputation method performed better than deep learning methods in predicting biotic seed dispersal mode. However, we also found that the deep learning methods demonstrate great potential in learning from community science photographs, despite their underperformance in this study. Furthermore, the study shows that incorporating a feature-extraction model could improve predictions of a single CNN model, highlighting the potential for future studies to include more models for better predictions of seed dispersal modes. We anticipate that the problems and potential improvements identified in this study relating to the deep learning method will serve as a starting point for further model development to predict the seed dispersal mode of unknown species with greater accuracy. This could involve applying multiple models, incorporating phylogenetic information with deep learning models, and including additional features. Accurately understanding how different plant species are dispersed can help scientists better predict future forest dynamics and carbon storage capacity, which is critical for studying future climate change and developing effective climate change mitigation strategies.