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关键词： 课程改革   人工进化   遗传学   生物信息学  

摘要： 面对百年未有之大变局,创新人才的自主培养成为当前高等教育的紧迫任务。“授课-背书-考试”模式适于知识的快速传播,而对激发学生志趣以及引导创新思维范式作用有限。2022年7月,清华大学-北京大学生命科学联合中心举办人工进化暑期学校,营造了一个由好奇心驱动的科教融合型培训环境,开展原创性实验以解决暂时没有答案的科学问题。理论课程包括科学发现的历程和遗传学前沿,实践部分涵盖人工进化遗传学实验和生物信息学分析。暑期学校从多方面多层次帮助学员理解科学逻辑和掌握创新范式,为探索创新人才的自主培养提供了新思路。

关键词： 《动物遗传学》   分层次教学   创新实践   性别鉴定  

摘要： 为实现《动物遗传学》课程在专业学习和素质教育中的目标任务,文章通过实施理论教学—示范教学—项目教学的递进式教学体系,以鸡的性别鉴定为例,重点探究在《动物遗传学》实验课程中开展分层次教学的必要性和有效性,为切实提高学生的综合素养奠定基础。

关键词： 临床现象   表观遗传学   人类基因组研究   人类疾病   经典遗传学   生物学性状   复杂疾病   基因型与表型  

摘要： 在人类基因组研究以来的二十年里,人类在疾病遗传学基础认识上取得了前所未有的成功。但两个基因相同的雌性同卵双生双胞胎,成长于相同的环境,却表现出差异较大的生物学性状。对于这一现象,人们无法用经典遗传学来进行解释基因型与表型之间的关系,于是便有了表观遗传学的诞生。随着表观遗传学的深入研究,人们发现一些复杂疾病的临床现象越来越离不开表观遗传学修饰调控机制的分析。

摘要： This study examines the history of machine learning in the second half of the twentieth century. The disunified forms of machine learning from the 1950s until the 1990s expanded what constituted “legitimate” and “efficacious” descriptions of society and physical reality, by using computer learning to accommodate the variability of data and to spur creative and original insights. By the early 1950s researchers saw “machine learning” as a solution for handling practical classification tasks involving uncertainty and variability; a strategy for producing original, creative insights in both science and society; and a strategy for making decisions in new contexts and new situations when no causal explanation or model was available. Focusing heavily on image classification and recognition tasks, pattern recognition researchers, building on this earlier learning tradition from the mid-1950s to the late-1980s, equated the idea of “learning” in machine learning with a program’s capacity to identify what was “significant” and to redefine objectives given new data in “ill-defined” systems. Classification, for these researchers, encompassed individual pattern recognition problems, the process of scientific inquiry, and, ultimately, all subjective human experience: they viewed all these activities as specific instances of generalized statistical induction. In treating classification as generalized induction, these researchers viewed pattern recognition as a method for acting in the world when you do not understand it. Seeing subjectivity and sensitivity to “contexts” as a virtue, pattern recognition researchers distinguished themselves from the better-known artificial intelligence community by emphasizing values and assumptions they necessarily “smuggled in” to their learning programs. Rather than a bias to be removed, the explicit contextual subjectivity of machine learning, including its sensitivity to the idiosyncrasies of its training data, justified its use from the 1960s t

关键词： 遗传学  

ISBN: (纸本)9787313240491

摘要： 本书共9章，第1章主要论述了遗传学在人类丰衣足食、安居乐业、健康长寿、天下太平等方面所起的作用，第2章为遗传学基础，第3-8章分别论述了遗传学与品种培育、遗传学与人类疾病、遗传学与医药健康、遗传学与生殖优生、遗传学与法律伦理、遗传学与环境保护等方面的应用，第9章为延伸阅读。

关键词： 遗传学  

ISBN: (纸本)9787557897529

摘要： 本书共五章, 包括遗传的细胞学基础、遗传物质的分子基础、基因组学、生物进化与群体遗传学、群体遗传组成及平衡定律等内容。

摘要： 背景育龄期女性胚胎着床失败及流产的最常见原因是胚胎异常，但移植经胚胎种植前遗传学检测（PGT）筛选后的正常胚胎后，仍出现种植失败或流产的原因目前并没有形成统一的结论。目的 分析PGT助孕后种植失败及流产的影响因素。方法 回顾性分析2018年12月至2021年2月在安徽医科大学第一附属医院生殖中心行PGT助孕的329例患者的临床资料，根据患者是否临床妊娠分为临床妊娠组（n=218）和种植失败组（n=111），并将临床妊娠组患者根据妊娠结局分为活产亚组（n=68）和流产亚组（n=43）。比较临床妊娠组和种植失败组，活产亚组和流产亚组的一般情况、辅助检查结果、促排卵及体外胚胎发育情况。采用多因素Logistic回归分析探讨PGT患者种植失败及流产的影响因素。绘制受试者工作特征（ROC）曲线分析多因素Logistic回归分析筛选出的影响因素对PGT患者发生种植失败及流产的预测价值。结果 多因素Logistic回归分析显示，既往流产次数≥2〔OR=4.032,95%CI(2.423,6.710)〕、高密度脂蛋白胆固醇（HDL-C）水平低〔OR=3.890,95%CI(1.455,10.403)是PGT患者种植失败的危险因素（P<0.05），低促性腺激素（Gn）用量〔OR=1.000,95%CI(0.999,1.000)〕是PGT患者种植失败的保护因素（P<0.05）；既往流产次数≥2〔OR=2.203,95%CI(1.099,4.417)〕、低胚胎活检正常率〔OR=5.655,95%CI(1.286,24.865)〕是PGT患者流产的危险因素（P<0.05），低空腹胰岛素（FINS）水平〔OR=0.912,95%CI(0.835,0.996)〕是PGT患者流产的保护因素（P<0.05）。ROC曲线分析结果显示，既往流产次数≥2,HDL-C水平，Gn用量预测PGT患者发生种植失败曲线下面积分别为0.650、0.579、0.561，灵敏度分别为70.3%、33.3%、60.4%，特异度分别为59.6%、80.3%、56.9%，约登指数分别为0.299、0.136、0.173；既往流产次数≥2,FINS水平、胚胎活检正常率预测PGT患者发生流产曲线下面积分别为0.648、0.629、0.641，灵敏度分别为66.2%、72.1%、65.1%，特异度分别为63.4%、52.6%、60.6%，约登指数分别为0.296、0.247、0.257。结论 既往流产次数≥2、Gn用量、HDL-C是PGT患者种植失败的影响因素且对PGT患者种植失败有一定预测价值；既往流产次数≥2、FINS水平、胚胎活检正常率是PGT患者流产的影响因素且对PGT患者流产有一定预测价值。

关键词： Gene fusion   MEF2D-BCL9   Precursor cell lymphoblastic leukemia-lymphoma   RNA   Sequence analysis  

摘要： Objective To investigate the molecular genetic and clinical characteristics of MEF2D - BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease. Methods The medical record and experimental examination data of a 18 - year - old female MEF2D - BCL9 fusion gene - positive B - ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D - BCL9 fusion gene - positive B - ALL were summarized. Results This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset. MEF2D - BCL9 fusion gene was detected through RNA - sequencing (RNA - seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022. Conclusions MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D - BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology. © 2022 Chinese Medical Journal Publishing House Co. Ltd. All rights reserved.

摘要： Behavioral genetic analyses have not demonstrated robust, unique, genetic correlates of hippocampal subregion volume. The following study is the first population-based investigation of a) hippocampal longitudinal axis genetic factors b) hippocampal transverse axis genetic factors using both T1 and T2 MRI images and c) differences in the genetic components of hippocampal volume between post-adolescent adults and pre-adolescent children. Twin-based biometric analyses demonstrated that longitudinal axis subregions are associated with significant, unique, genetic variance, and that longitudinal axis subregions that are closer to one another are more genetically related than those further to one another. Although our analyses find that certain transverse axis subfields have significant, unique, sources of genetic variance, others (e.g, CA1, DG) do not exhibit significant, unique, sources of genetic variance. Lastly, we do not find any differences in univariate or multivariate sources of genetic influence between children and adults. This study is the first to demonstrate evidence of genetic differentiation of gray matter volume along the human hippocampal longitudinal axis in living humans. Given that twin-based study designs are the most statistically powered to detect aggregated genetic effects, and the fact that the following study utilizes an unprecedented sample size to study the genetic components of hippocampal volume (930 twin pairs), the following study represents the most statistically powered investigation of hippocampal genetic differentiation in living humans.