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摘要： Elucidating the relationship of the gut microbiome in Alzheimer's Disease (AD) risk and pathogenesis is an area of intense interest. Since 60 to 80% of AD risk is related to genetics and APOE alleles represent the most impactful genetic risk factors for AD, their mechanism(s) of action are under intense scrutiny. First, I conducted a study on APOE targeted replacement mice to investigate the impact of APOE alleles on the murine gut microbiome. The relative abundance of bacteria from the family Ruminococacceae and related genera increased with APOE2 status. The relative abundance of the class Erysipelotrichia increased with APOE4 status, a finding that extended to humans. Since Ruminococacceae have been associated with increased SCFA production, these findings suggest that SCFA-producing bacteria are increased in the AD-protective APOE2 positive mice. Next, I compared the effects of short-chain fatty acid (SCFA)- vs. saline-treated water on APPswe/PSEN1dE9 mice maintained under standard laboratory conditions. I found that SCFA treatment increased alpha-diversity and impacted the gut microbiome profile by increasing the relative abundance of the genera Bifidobacterium and Lactobacillus, which are known to produce SCFAs and SCFA precursors. Although gut microbiome changes in SCFA-treated mice were robust, SCFA treatment did not significantly affect behavior, cortical or hippocampal astrocyte activation, or soluble and insoluble amyloid levels. In conclusion, there is robust evidence of an APOE allelic effect on the murine gut microbiome that implies an AD-relevant genetic impact on the gut microbiome. The gut microbiome can be modulated by SCFA supplementation, revealing a potential therapeutic for AD prevention. These pioneering studies represent the medical importance of gut health on disease prevention and treatment.

关键词： 遗传学实验   改革教学方式   整合教学内容   改革考核方式  

摘要： 《遗传学实验》课程坚持“以学生为主体，以学为中心，聚焦课堂革命，培养具有持续学习和发展动力的新时代大学生”的教学理念，秉承“以能力为导向，以学生为中心”的原则，从满足学生需求，适应社会需要，解决实际问题出发，以培养具有扎实学识的师范类专业人才为目标，整合教学内容，改革教学方式和考核方式，充分调动学生实验课的积极性.通过“二转变、二构建”的教学模式、“四位一体”的育人模式和“六个协同”的人才培养模式解决遗传学实验教学中的“六重六轻”痛点问题.成效显著，值得推广应用.

关键词： Li-Fraumeni综合征   胶质母细胞瘤   脉络丛肿瘤   病理学   遗传学  

摘要： The purpose of this hermeneutic phenomenological study was to describe occupational stress and burnout as experienced by K–2 elementary educators in central Pennsylvania postpandemic. The theories guiding this study were Lazarus and Folkman's transactional model of stress and coping and Lazarus's cognitive-motivational-relational theory of emotion, which provided a framework for understanding how educators process occupational stress. The central research question guiding this qualitative phenomenological study was: What is the lived experience of K–2 elementary school educators postpandemic The sample consisted of 12 to 15 K–2 educators from across three school districts in central Pennsylvania. Data were collected using journal entries, semistructured individual interviews, and focus group sessions. Data were analyzed using open coding to identify themes. Phenomenological reduction and imaginative variation were used to create textural descriptions of the essence of the experience of occupational stress for K–2 educators. The findings of the study demonstrate that varying needs of students and staffing shortages contribute to occupational stress and burnout in K–2 educators.

摘要： The geodynamic evolution of the northern Indian continental margin has been extensively studied. The Spinghar Crystalline Complex of NW Pakistan is dominantly comprised of mega-porphyritic granitic gneisses (GG) and leucogranites (LG). Integrated petrographic and geochemical investigation from the granitoids reveal their calc-alkaline, peraluminous (A/CNK > 1) and S-type character. The high precision U-Pb zircon mean ages of 2349 ± 7.3 Ma for GG and 1831 ± 19 Ma for LG show their emplacement in Early Proterozoic. These granitoids show enrichment in light rear-earth elements (LREEs) and exhibit similar chondrite normalized REE patterns with negative Eu anomalies. Major and trace element ratios suggest a derivation from partial melting of metasedimentary psammitic and pelitic sources for the granitic gneisses and leucogranites respectively. The strikingly analogous geochemical characteristics, geological settings and U-Pb systematics between the studied granitoids and adjoining Paleoproterozoic granites from the lesser Himalayan belt suggests that they were formed in a similar syn-collisional to arc related tectono-magmatic environment during the *** dykes of alkaline to subalkaline affinity and basaltic composition intrude these granitoids. They are interpreted as intraplate mafic dykes with a relatively high concentration of TiO2 (~2%). Geochemical characteristics like low Cr, high concentration of incompatible elements (Ba) and LREEs enrichment indicate the role of assimilation and fractional crystallization in the genesis of these dykes. Furthermore, these mafic dykes share geochemical features with back arc basin basalts and other Paleoproterozoic mafic bodies from the lesser Himalaya, suggesting its origin in a back arc setting with a heterogenous mantle source of mixed depleted mantle and recycled *** results obtained from this study reveal the generation of these granitoids in a syn-collisional to arc setting with back arc e

关键词： 假性甲状旁腺功能减退症   GNAS基因   分子遗传学  

摘要： 假性甲状旁腺功能减退症(pseudohypoparathyroidism, PHP)是一组由于GNAS基因突变导致Gsα/cAMP/PKA信号通路异常引起以多激素抵抗和遗传性骨营养不良为特征的罕见遗传代谢性疾病。主要分为Ⅰ型和Ⅱ型,其中Ⅰ型又根据临床表现与生化特征分为Ia、Ib、Ic型。PHP的临床表型复杂,分子机制多样,随着对该类疾病不断深入的研究以及分子生物学检测技术的提高,该类疾病得到了更深入的认识。现对PHP的遗传学研究进展作一综述。

关键词： 医学遗传学   教学模式   课程建设   教学改革   评价体系  

摘要： 课程是人才培养的核心要素,课程质量直接决定人才培养的质量。医学遗传学是一门实践性较强的学科,是临床医学专业本科生的专业基础课。文章在南京医科大学“双一流”建设背景下,剖析了南京医科大学医学遗传学教学中存在的问题,并从师资队伍建设、课程体系、课程内容方法以及考核评价体系等方面对医学遗传学课程建设提出了改革思路和具体措施。

关键词： 中文核心期刊   读者对象   遗传学家   遗传学教学   生物进化   学科热点   发育生物学   基因组学  

摘要： 《遗传》为中国精品科技期利,是反映中国建传学原利性研究成共及国际遗传学进要的中文核心期刊。读者对象为生命科学领域研究与数事人员、技术研发人员、研究生及本科生等。征稿范围遗传学、基因组学、发育生物学、生物进化及生物技术等领域有创新性的研究论文;新技术与新方法;学科热点问题的专论与综述;遗传学教学的经验体会;国内外著名遗传学家介绍;国内外学术会议信息及科学新闻等。

关键词： 自然流产   染色体微阵列分析   拷贝数变异   全外显子组测序   影响因素  

摘要： 目的探讨1065例自然流产患者的遗传学病因及其相关因素。方法选择2018年1月至2021年12月于南京鼓楼医院产前诊断中心就诊的1065例自然流产患者为研究对象。采集患者的绒毛组织或胎儿皮肤组织,用染色体微阵列分析(CMA)对其基因组DNA进行检测。选取10对CMA检测未见异常的非体外受精-胚胎移植(IVF-ET)妊娠、既往无活产分娩史且无子宫结构畸形的早期复发性流产夫妇,采集其外周静脉血样,进行家系全外显子组测序(trio-WES),并通过Sanger测序对结果进行验证,并对候选变异进行生物信息学分析。采用多因素非条件Logistic回归分析法,对可能影响流产组织中染色体异常的因素进行分析,包括夫妇双方的年龄、既往自然流产的次数、是否进行IVF-ET以及有无活产分娩史等。不同流产次数的低龄和高龄患者早期流产组织染色体非整倍体发生率的比较采用线性趋势χ^(2)检验。结果在1065份自然流产组织中,CMA共检出染色体异常570例(53.5%),其中染色体非整倍体489例(45.9%),致病/可疑致病拷贝数变异(CNVs)36例(3.4%)。在10对夫妇中,trio-WES检测在2对夫妇的流产组织中分别发现1个纯合变异和1个复合杂合变异,均遗传自亲代;在2对夫妇的自然流产组织中分别发现1个疑似致病变异。多因素非条件Logistic回归分析显示,孕妇年龄是流产组织染色体异常的独立风险因素(OR=1.122,95%CI:1.069-1.177,P<0.001),既往流产次数和IVF-ET妊娠则是其独立保护因素(OR=0.791、0.648,95%CI:0.682-0.916、0.500-0.840,P=0.002、0.001),配偶年龄和活产分娩史并非其独立风险因素(P>0.05)。在低龄患者的流产组织中,非整倍体的发生率随既往自然流产次数的增加而下降(χ^(2)=18.051,P<0.001)。在高龄患者的流产组织中,非整倍体的发生率则与既往自然流产的次数无显著相关性(P>0.05)。结论自然流产的遗传学病因以染色体非整倍体为主,而CNVs与基因变异也值得重视。孕妇的年龄、既往流产的次数及IVF-ET妊娠与流产组织中的染色体异常密切相关。

关键词： 临床遗传学   医学遗传学   遗传咨询   遗传病   临床细胞遗传学   诊断方法   预防治疗   防病治病  

摘要： 医学的终极目的是防病治病和增进人类健康。作为医学的一个分支,医学遗传学是从事遗传病和与遗传有关疾病的研究和预防治疗的学科,它具有理论和实践的双重属性。创刊伊始,本刊在报道我国医学遗传学研究成果同时,即十分关注与临床遗传学服务有关的内容。近年来,更增加了“临床遗传学论著”“临床细胞遗传学”等栏目,包括诊断方法和标准、遗传咨询、遗传病的治疗等等。然而,与发达国家比较,我国临床遗传服务还有较大差距,还存在较多根本性的问题。