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关键词： 胚胎植入前遗传学筛查   高龄   复发性流产   反复种植失败  

摘要： 目的通过对高龄、复发性流产及反复种植失败患者进行胚胎植入前非整倍体遗传学检测,分析各指征下胚胎染色体情况。方法收集2018年1月至2019年12月间在柳州市妇幼保健院生殖中心行胚胎植入前遗传学筛查患者131例,胚胎培养至囊胚期进行活检。根据女方年龄将胚胎分为高龄组(≥38岁,n=69)和非高龄组(<38岁,n=62),按患者不同指征分为复发性流产组(n=86)和反复种植失败组(n=22)。通过二代测序平台分析,比较不同年龄段和不同指征下患者胚胎染色体非整倍体情况。结果女方年龄<38岁组胚胎染色体非整倍体率(63.78%)显著低于女方年龄≥38岁组(79.55%),差异具有统计学意义(χ^(2)=20.237,P<0.001)。在不同指征下,复发性流产和反复种植失败患者胚胎染色体非整倍体率分别为67.49%和73.55%,两组间胚胎异常率比较差异无统计学意义(χ^(2)=1.657,P=0.198)。胚胎的异常染色体数目(1条染色体异常、2条染色体异常和≥3条染色体异常)在复发性流产组中频率(40.85%、20.12%和39.02%)与反复种植失败组(37.08%、21.35%和41.57%)比较差异无统计学意义(χ^(2)=7.185,P=0.126)。将染色体异常的类型分为单体、三体、微缺失微重复和嵌合四种,反复种植失败组染色体单体比率(38.05%)显著高于复发性流产组(24.79%),差异具有统计学意义(χ^(2)=7.504,P=0.006)。结论高龄、复发性流产及反复种植失败的女性,胚胎染色体异常具有较高的比例,应用PGT-A可有效地避免染色体非整倍体的胚胎植入,改善临床结局。

关键词： 多囊卵巢综合征   表观遗传学   DNA甲基化   组蛋白修饰  

摘要： 多囊卵巢综合征(polycystic ovary syndrome, PCOS)是一种复杂的内分泌与代谢紊乱性综合征,是可遗传基因易感性及环境危险因素共同作用的结果。流行病学调查[1]显示国内PCOS患病率占不孕人群的1/3左右,各人种发病率在5%~10%之间,其发病因素常与种族、遗传、低性激素结合球蛋白、高游离甲状腺激素指数、高胰岛素血症、不孕、肥胖等有关。表观遗传学是一种非DNA变异导致的基因表达水平改变的可遗传现象。表观遗传学在PCOS的发病机制中也发挥了重要作用,包括DNA甲基化、组蛋白修饰、X染色体失活、基因组印迹、长链非编码RNA、微小RNA等。现针对表观遗传学与PCOS的关系作一综述。

关键词： 酒精性肝病   DNA甲基化   组蛋白修饰   miRNAs   m^(6)A  

摘要： 酒精性肝病(alcohol liver disease,ALD)是由长期大量饮酒导致的一系列不同程度的肝脏疾病,其症状通常由早期的酒精性脂肪肝进展为酒精性肝炎、肝硬化和肝纤维化,严重时会导致肝功能衰竭。ALD是我国最常见的肝脏疾病之一,严重危害人民健康,目前临床尚无有效的治疗药物。ALD的发生涉及到长期的、多种细胞之间的复杂相互作用,因此目前对于其具体的分子机制尚不十分清楚。近些年随着表观遗传学研究的进展,人们渐渐了解到表观遗传调控这一沟通外界环境和基因转录调控的重要桥梁在ALD进展过程中的重要作用。本文系统性总结了包括DNA甲基化、组蛋白修饰,microRNA和mRNA m^(6)A修饰等表观遗传调控在酒精性肝病中的研究进展,并讨论了其作为临床治疗靶点的可能性和意义。

关键词： 医学遗传学   笔记展示大赛   实施效果  

摘要： 目的探讨线上笔记展示大赛在医学遗传学教学中的实施效果。方法选择佳木斯大学2018级预防医学专业本科生。1班和2班73名学生作为观察组,3班和4班67名学生作为对照组。观察组学生课程教学结束后进行线上笔记展示大赛。课程成绩评定方式在第一节课即告知2组学生,让学生采取适宜的学习方式。通过问卷调查结果和课程考核成绩,对2组学生的教学效果做出评价。结果观察组学生期末考试平均成绩和优秀率与对照组学生相比,差异有统计学意义(P<0.05)。问卷调查结果表明,73名观察组学生中,86.31%(63/73)的学生喜欢本次大赛,80.82%(59/73)的学生认为线上笔记展示大赛能提高分析、归纳和总结能力,83.56%(61/73)的学生认为通过此次大赛能提高学习效率和学习效果。观察组学生在课前预习、课中注意力、课后拓展学习等方面与对照组学生相比,差异有统计学意义(P<0.05)。结论开展医学遗传学线上笔记展示大赛能促进学生的主观能动性,提高其思考、探索、概括能力。

关键词： acute myeloid leukemia   CEBPA single mutation   prognosis   variant allele frequency  

摘要： Introduction CEBPA mutation is a common mutation in normal karyotype AML. CEBPAdm AML has been recognized as a separate entity, but there is still controversy to the prognosis of CEBPAsm patients. Methods A total of 151 newly diagnosed cytogenetically normal AML patients treated at the Second Hospital Center of Shanxi Medical University from February 2017 to December 2019 were the subjects of the study. According to the number of mutations in the CEBPA gene, the patients were divided into three groups, CEBPAsm, CEBPAdm, and CEBPAwt patients. The clinical characteristics, gene mutations, response, and prognosis were retrospectively compared among the three groups. Results CEBPAsm patients had lower hemoglobin values compared to CEBPAdm (P = .049). There was no statistical difference between the CEBPAsm cases and the CEBPAdm cases in the mutation types and the distribution of mutation regions (P > .050). Compared with CEBPAdm, cases with CEBPAsm were more likely associated with multiple other gene mutations (P = .023). Patients with CEBPAdm had a higher CR, ORR, and OS than those CEBPAwt (P < .050). CEBPAsm patients had a similar OS with CEBPAdm and CEBPAwt patients (P = .281). These CEBPAsm patients with VAFFLT3-ITD mutations could reduce CEBPAsm patients' OS (P = .019). Conclusion Our data first highlighted the impact of CEBPAsm VAF on OS, and the results showed the lower the VAF was, the shorter the OS tended to. The VAF of CEBPAsm could provide specific significance in some extent for the prognosis of patients.

摘要： The genetic mechanisms underlying facial sexual dimorphism are currently unknown. My thesis addresses this gap by shedding light on the genetic and biological mechanisms underlying sexual dimorphism in human facial shape, as well as normal facial variation more broadly. I evaluated the shape differences between males and females, scored their shapes for sexual dimorphism, and looked for genetic loci and genes that had significant associations with sexually dimorphic facial shape. While none of the SNPs reached genome-wide significance, testing revealed seven independent signals with suggestive associations (p < 1 × 10 -5 ) to facial sexual dimorphism, spanning coding regions in four different genes. Three of these genes, RBFOX1, CACNA2D3 and ATP6V1E1, have previously been implicated in processes of craniofacial development. I also examined the shapes and genetic aetiologies associated with sex chromosome aneuploidies, Turner syndrome (X0) and Klinefelter syndrome (XXY), which yielded no clear indication of the role of the X chromosome in sexual dimorphism of the face. These findings support the most recent evidence that the same genes influence facial sexual dimorphism in both males and females. Furthermore, by identifying genes previously linked to normal facial variation, I provide preliminary evidence for developmental mechanisms underlying shared variation in facial sexual dimorphism between the sexes. Only by properly understanding the mechanisms underlying facial sexual dimorphism will we be able to form a complete picture of its role in human evolution.

关键词： 林木  

ISBN: (纸本)9787521914610

摘要： 本书分为7章。第1章介绍理解群体遗传学所需的概念和方法背景。第2章着重于理解哈迪－温伯格定律，使我们能够比较一个种群随时间变化的实际遗传结构与在哈迪一温伯格平衡(即，不进化)时预期的遗传结构。第3-5章分别阐述了随机遗传漂变、基因流和自然选择对群体遗传结构影响的重要性和进化效应。第6章是关于数量遗传学和进化，提供了将自然选择、遗传变异和适应性进化的速度和方向定量联系起来的经典理论框架，主要侧重于具有连续变异的性状。第7章是群体遗传学在树木改良与遗传保护中的应用。

关键词： 遗传学  

ISBN: (纸本)9787569711356

摘要： 本书将动物、植物、微生物、人类遗传学的实验内容进行了整合，内容涵盖经典遗传学、细胞遗传学、微生物遗传学和分子遗传学领域，压缩了简单验证性实验，增加了综合性和设计创新性实验。基础性实验主要培养学生遗传学研究的基本方法和基本技能。综合性实验的目标是综合运用已掌握的基本原理和技术，研究和探索遗传学基本问题，培养学生解决问题的系统思维能力和综合分析问题的能力。设计创新性实验主要针对遗传学发展的一些先进理论和先进实验技术，由学生自行设计实验方案并实施实验，旨在培养学生的独立研究能力和创新精神。

ISBN: (数字)9781119293927 ISBN: (纸本)9781119293903

摘要： A comprehensive volume providing broad and detailed coverage of marine mussels Marine Mussels: Ecology, Physiology, Genetics and Culture provides readers with in-depth, fully up-to-date information on all major aspects of marine mussels. Written by an internationally renowned expert in the field, this authoritative volume addresses morphology, ecology, ­feeding, phylogeny and evolution, reproduction and larval development, settlement and recruitment, genetics, disease, management of culture systems and more. The book encompasses many different species of marine mussels: genus Mytilus , other important commercial marine genera such as Perna, Aulacomya and Choromytilus , and non-commercial genera including Modiolus, Geukensia, Brachidontes and hydrothermal vent Bathymodiolus . Comprising twelve extensively cross-referenced chapters, the book discusses a diversity of integrated topics that range from fundamental physiology of marine mussels to new techniques being applied in their biology and ecology. Author Elizabeth Gosling reviews contemporary developments and issues in the field such as the use of DNA genetic markers in detecting and diagnosing different strains of pathogenic bacteria, the use of mussels as monitors of marine contaminants, sophisticated modelling techniques that simulate disease and forecast outbreaks, and the impacts of global warming, ocean acidification and hypoxia on marine mussels. Presenting an inclusive, highly detailed treatment of mussel biology, physiology, genetics, and culture, this invaluable resource: Contains thorough descriptions of external and internal anatomy, global and local distribution patterns, the impacts of mussels on marine ecosystems, and the processes of circulation, respiration, excretion and osmoregulation Reflects significant advances in mussel science and new areas of research in marine mussels Describes the fundamentals of mussel aquaculture, the types and levels of contaminants in the marine environment and new ap