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关键词： 致心律失常性右室心肌病   遗传学   桥粒蛋白基因   非桥粒蛋白基因  

摘要： 致心律失常性右室心肌病(Arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种右室心肌细胞被纤维脂肪细胞所取代,主要临床表现为室性心律失常和心源性猝死的心肌病。ARVC具有早期症状的隐匿性和临床表型的多样性,分子遗传学的发展为ARVC的早期诊断提供了新的突破。越来越多的研究表明桥粒蛋白基因为其主要致病基因,本文就ARVC的分子发病机制及遗传学研究进展加以综述。

关键词： 双一流   高级植物分子遗传学   创新能力培养  

摘要： 当前,我国教育系统都在积极推进“双一流”建设工作,力争建设世界一流大学和一流学科,以期提升我国高等教育的综合国力和国际竞争力。在这一时代背景下,加强培养研究生的创新意识、创新思维和创新能力显得尤为重要。文章以“高级植物分子遗传学”课程为例,分析该门课程的教学现状,探讨教学过程中注重培养创新型学生的重要性,此外,还从培养学生兴趣、调整课程教学方式、加强理论与实践教学等方面提出教学改革的具体方案,旨在提高高校研究生的培养质量,为“双一流”学校建设打下坚实基础。

关键词： 遗传学   教学   改革   实践  

摘要： 遗传学课程是本科核心基础课程之一,但在教学过程中存在课时不足、教学内容过剩、教学资源相对缺乏、教学方法手段单一、实验教学故步自封等问题。通过两年的遗传学教学改革,并根据学生对教学改革实施效果的实际反馈,本文从教学内容、课程资源、教学方法及手段、实验教学等方面进行总结与探讨,为新时代的遗传学课程改革添砖加瓦。

关键词： 精神分裂症超高危   分子遗传学   综述  

摘要： 精神分裂症超高危的转化与多种因素有关,近年来越来越多的文献显示精神分裂症超高危转化的机制与分子遗传学有关,因此本文对精神分裂症超高危的分子遗传学相关研究进展进行综述。

关键词： 遗传学   微课   应用  

摘要： 微课是一种新型的教学资源,近年来发展迅速,但开展比较多的是微课比赛,在教学实践中的应用,报道不多。研究针对遗传学的学科特点,选取了遗传学教学中的重难点、习题及课外知识制作成微课,并在遗传学教学中进行实践,取得了较好的教学效果,如促进了学生对重难点知识的掌握,节约了评讲习题的时间,在一定程度上扩展了学生的知识面。

关键词： 胚胎植入前遗传学诊断   胚胎植入前遗传学筛查   研究进展  

摘要： 胚胎植入前遗传学诊断(PGD)/筛查(PGS)是目前临床上较为常用的新型胚胎植入前遗传学检查方法。PGD主要用于在胚胎移植前检测特定的突变以及非平衡染色体异常是否传递到卵子或胚胎。PGS主要用于检测胚胎染色体的非整倍性。本文主要综述PGD和PGS目前在临床上的应用情况,为胚胎植入前遗传学检查方法的选取提供理论依据。

关键词： 新发突变   遗传性多发性骨软骨瘤I型   极体   胚胎植入前基因诊断   连锁分析  

摘要： 目的探讨适用于特殊单基因遗传病家系(本研究针对夫妻中女方为新发突变携带者)胚胎植入前基因诊断(PGD)的新方法,阻断致病性基因突变向下一代传递。方法以多发性骨软骨瘤致病基因EXT1女性新发突变携带者的胚胎基因诊断为例,阐述针对特殊遗传家系胚胎诊断策略的优势。我们采用直接致病位点检测结合连锁分析的检测策略,利用突变位点检测成功的胚胎和极体单细胞样本的连锁信息,对其他胚胎进行连锁分析,从而判断胚胎是否携带母源基因突变。结果获得12枚胚胎进行遗传学检测,其中3枚胚胎、2个极体突变位点检测成功,随后用于其他胚胎的连锁分析。5枚胚胎经检测不携带母源基因突变,染色体未见异常,可移植。患者移植其中1枚胚胎后,成功妊娠、分娩。PGD新生儿不携带母源突变。结论采用携带突变的胚胎或极体进行连锁分析的创新性检测策略,可以在女方缺少连锁分析所必要成员的情况下,准确判断胚胎母源突变携带情况,从而扩展了单基因胚胎移植前基因诊断技术的适用人群。

关键词： 耳聋   GJB2   SLC26A4   MYO15A   基因突变  

摘要： 目的分析14个耳聋家庭的临床特征及遗传学病因。方法对14个耳聋家庭进行详尽的临床表型分析,对14个先证者采用十五项遗传性聋基因检测试剂盒(微阵列芯片法)进行常见的4种耳聋基因的15个突变位点检测;对未能确诊的先证者进一步使用定向捕获联合二代测序技术进行耳聋基因检测,对候选耳聋基因的突变位点进行Sanger测序验证。结果 14个耳聋家庭的20例耳聋患者表现为不同程度、双侧基本对称的感音神经性聋。9个耳聋家庭的患者为GJB2双等位基因突变致聋,家庭1～6分别为c.235delC/c.235delC,c.299delAT/c.299delAT,c.235delC/c.299delAT,c.176del16/c.299delAT,c.235delC/c.380G>T,c.109G>A/c.571T>C;家庭7、8同为c.235delC/c.176del16,家庭9为GJB2(c.109G>A/c.109G)合并TBC1D24(p.C386R)致聋。家庭10～13先证者为SLC26A4双等位基因突变致聋,分别是c.919-2A>G/c.919-2A>G,c.919-2A>G/c.1174A>T,c.919-2A>G/c.2167C>G,c.626G>A/c.2168A>G。家庭14先证者为MYO15A复合杂合突变c.6956+9C>G/c.10245_10247delCTC致聋,该突变是既往研究未曾报道的新发突变。结论本研究明确了14个非综合征型聋家庭的致病基因突变,同时证实以耳聋家庭为单位的两步法检测模式是一种高效的耳聋基因检测方法。

关键词： HEMATOPOIETIC stem cell transplantation   IMMUNOGENETICS   TRANSPLANTATION immunology   HLA histocompatibility antigens   LEADERS   HISTORY  

摘要： A single observation in a patient with an unusual transfusion reaction led to a life-long fascination with immunogenetics, and a strong wish to improve the care for patients needing a transplantation. In 2017, Jon van Rood, one of the pioneers in the field of HLA and immunogenetics of transplantation, passed away. Several obituaries have appeared describing some of the highlights of his career. However, the details of the early developments leading among others to the routine use of HLA as an important parameter for donor selection in organ- and hematopoietic stem cell transplantation are largely unknown to the community. After his retirement as Chair of the Department of Immunohaematology and Blood Transfusion (IHB) in 1991, Jon van Rood wrote regularly in the "Crosstalk", the departmental journal, and gave his personal view on the history of the discovery and implications of HLA. These autobiographic descriptions were originally written in Dutch and have been translated, while texts from other sources and the relevant references have been added to illustrate the historical perspective. This special issue of Transplant Immunology combines the autobiographic part, Jon's own version of the history, with other facts of his scientific life and the impact of his findings on the field of clinical transplantation. Hopefully, this knowledge of the history will be of benefit for future developments in transplantation immunology.

摘要： Our body consists of a large number of cell types, which all have their own iden? ty and func? on. These individual cell types show diff erent behavior; however, because each cell contains the same DNA, this iden? ty cannot be explained based on cellular DNA sequence. A fer? lized egg gives rise to all cells present in the full-grown organism and contains one set of DNA, whilst it is the basis for all the cells present in the organism, which contains cells that all have diff erent cellular iden?? es. This iden? ty is established by the proteins that are present in the cell, which is ini? ally regulated at the level of the DNA: control of which genes to transcribe into RNA and which ones not. Regula? on of DNA transcrip? on is very important in a plethora of contexts, including the development of an organism from a fer? lized egg. Transcrip? onal regula? on can be tweaked by a number of mechanisms, for example making it more or less easy to read the DNA, as the possibility to read the DNA is required for RNA produc? on. For example, compac? on of the DNA makes it more diffi cult to read the underlying sequence. DNA is wrapped around so-called histones and modifi ca? ons to the DNA and these histones can aff ect how easily the DNA sequence can be accessed. In this doctoral thesis I have studied Polycomb group proteins, which are proteins that modify histones and these modifi ca? ons result in inhibi? on of transcribing the DNA into RNA. For the experiments described in this thesis, I have used zebrafi sh as a model organism, since their embryonic development shows important overlap to human development and they have a wide-variety of advantages in usage in developmental and bio-molecular research. In chapter 1 I provide an overview of zebrafi sh development and transcrip? onal regula? on, with a special focus on Polycomb group proteins and their role in embryonic development, the germ line, and the heart. The Polycomb group proteins belong to a large family of tran- s