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关键词： 伴IRF4重排的大B细胞淋巴瘤   免疫组化   荧光原位杂交  

摘要： 目的探讨伴IRF4重排的大B细胞淋巴瘤(LBCL-IRF4)临床病理及分子遗传学特征。方法收集湖北省十堰市太和医院(湖北医药学院附属太和医院)2017-12—2020-12诊断的2例LBCL-IRF4,采用HE染色、免疫组化及荧光原位杂交的方法,观察组织学、免疫表型及分子遗传学特征,并结合文献进行复习。结果2例患者中男女各1例,年龄分别为11岁、7岁,发病部位分别在颈部淋巴结(例1)和扁桃体(例2);形态上,例1膨胀性生长构型;例2弥漫性浸润构型;免疫组化示肿瘤细胞表达全B细胞标记物,2例均弥漫表达CD10、Bcl-6、MUM1及Bcl-2,Ki-67增殖指数均大于80%。2例均出现IRF4基因断裂重排。结论LBCL-IRF4是一种少见并具有独特的临床病理和分子遗传学特征的大B细胞淋巴瘤,好发于儿童和年轻人,主要累及Waldeyer环或头颈部淋巴结,治疗后预后较好。

关键词： 软组织肉瘤   SMARCA4融合   DOCK6   VEZF1   圆细胞   黏液性/胶原样基质  

摘要： 目的探讨SMARCA4融合相关肉瘤的临床病理学及分子遗传学特征。方法回顾性分析2例SMARCA4融合相关肉瘤的临床病理学及免疫表型特征,采用二代测序技术分析分子遗传学特征。结果2例男童年龄分别为7岁(例1)及12岁(例2),病变部位为右侧睾丸及右侧腘窝,临床表现为右侧睾丸及右侧腘窝的无痛性占位,肿瘤最大径4.5~7.0 cm。镜检:低倍镜下2例瘤细胞均呈弥漫片状及交织束状排列,瘤细胞疏密不等,呈圆细胞样、上皮样及梭形,肿瘤性间质为黏液性及胶原样基质,均可见凝固性坏死,核分裂象均易见。例1以黏液样间质为主;例2以胶原化背景为主。免疫表型:2例具有肌源性分化,表达desmin和SMA;部分表达CD99;SMARCA2、SMARCA4(BRG1)、SMARCAB1(INI-1)、ARID1A、H3K27ME3表达均无缺失,Ki-67增殖指数分别为60%、20%。2例随访时间8~22个月,例1未见复发及转移,例2复发,出现可疑肺转移。2例均检测到SMARCA4融合,分别为SMARCA4-DOCK6融合及SMARCA4-VEZF1融合。结论SMARCA4融合相关肉瘤是一种罕见的恶性软组织肿瘤,分子特点为SMARCA4融合。

关键词： 动物遗传学   以问题为导向   教学改革   教学模式  

摘要： 动物遗传学是高等农业院校动物科学等专业学生必修的专业基础课,在人才培养中发挥着重要作用.传统的动物遗传学教学主要采取"教师讲,学生听"的模式,学生被动接受知识,积极性和参与度不高.在大力倡导本科教育的背景下,笔者改变传统的课堂教学,引入以问题为导向的教学模式,在课堂中积极设问,引导学生思考和讨论,充分调动学生自主学习积极性和主动性,提高学生分析问题和解决问题的能力.

关键词： Epigenetics   Genetics   Environmental influences   Phenotype   Aquaculture   Livestock production   Food production   Growth and nutrition regulation   Disease resistance   Stress response   Early development   Selective breeding   Climate change   Conservation   Sustainability  

ISBN: (数字)9781119821946 ISBN: (纸本)9781119821915

摘要： EPIGENETICS IN AQUACULTURE This essential guide will allow you to understand how new developments in our knowledge of epigenetic mechanisms and epigenetic inheritance can be applied to improve aquaculture production and aquatic resource management and conservation. Epigenetics is the study of heritable changes in gene expression that are independent of alterations in the nucleotide sequence. It integrates genomic and environmental influences to shape the phenotype. Epigenetics is a field with particular relevance to aquaculture and aquatic organisms, since it underpins acclimatory responses to diverse and changing environments and inheritance of desired phenotypes. Epigenetics in Aquaculture provides a comprehensive introduction to epigenetics, epigenetic mechanisms, epigenetic inheritance, and research methods. It also provides the current state of the art on research and development on epigenetics in the major functions of aquatic organisms in the framework of aquaculture production. The fact that aquaculture is the fastest-growing sector of food production makes the book especially timely. Readers will also find: Detailed treatment of subjects including aquatic faunal reproduction, sex determination, growth regulation, nutritional programming, disease resistance, stress response and much more Survey of current research lacunae and the projected future of the discipline An authorial team of internationally renowned experts Epigenetics in Aquaculture is a valuable reference for researchers, biologists and advanced students in any area of marine science, oceanography, aquaculture, environmental science, and food production.

摘要： Identification of human remains in clandestine mass graves poses a challenge to forensic investigations. Development and validation of strategies addressing this challenge requires an understanding of the taphonomic processes underpinning the spatial and biomolecular layout of mass graves. Current scientific knowledge is limited in this regard. However, to avoid risking the legal acceptance of evidence, such research and strategy development cannot be conducted during forensic casework. Currently, DNA sampling from decomposed human remains is performed from hard tissues (bone and teeth), through labor-intensive, expensive methods. As part of the "Mass Grave Project" (MGP) conducted at the Forensic Anthropology Center at Texas State University, the viability of DNA profiling from soft tissues for identification in mass burial contexts is investigated. If equally-valuable genetic information can be obtained from soft tissues as hard tissues, cheaper, more efficient DNA sampling methods may be developed. In the MGP, one mass grave with six comingled human donations and three individual graves underwent an 18-month burial. This controlled experimental design enabled deeper analysis of differential decomposition, tissue-type, DNA contamination, grave location, and grave type with respect to the DNA results. Pre-burial, human donations were preserved frozen, as is common in forensic taphonomy research. However, understanding the effects of fresh-freezing bodies on DNA is important regarding the suitability and validity of using human donations in genetic research post-freezing. This sub-study of the MGP analysed the DNA results of neck, oral and rectal swabs collected at each timepoint as well as swabs from contact points between human remains in the mass grave. DNA profile quality decreased across all three timepoints. The results firstly challenge the suitability of using human donations post-freezing for genetic research. Further, differential macroscopic tissue decomp

关键词： Developmental Biology   evidence for polygeny   quantitative traits   three-way alignment   Genetics and Genomics   trait-based interaction   adaptive radiation   functional complexes   selection in nature   models of peak movement   multivariate selection   correlational selection  

ISBN: (数字)9780191949852 ISBN: (纸本)9780192859389

摘要： Evolutionary quantitative genetics is concerned with the evolution of quantitative traits that are affected by many genes (e.g., body size, metabolic rate, competitive ability). Although evolutionary quantitative genetics has emerged as the dominant paradigm for understanding evolution, the full scope of its achievements are not yet apparent to a wide audience. To reach and engage that wider audience, this book summarizes important empirical and theoretical results in evolutionary quantitative genetics. Here are a few significant signposts along the path of the book’s main argument: (1) Analysis of a large literature on selection measured in nature indicates that most traits are close to, if not on, an adaptive peak. (2) QTL and GWAS studies have shown that quantitative traits are affected by scores or if not hundreds of genes (polygeny). (3) Most traits interact with other traits, forming functional complexes that are shaped by stabilizing and correlational selection. (4) Such trait complexes can persist for hundreds of millions of years, suggesting long-lasting patterns of multivariate selection. (5) Perpetual, random movement of the adaptive peak is the common denominator of successful models of adaptive radiation. A single model of adaptive radiation can produce stasis or exuberant diversification depending on the setting for the rate of peak movement. (6) Simulation studies of evolving multivariate inheritance suggest that processes of mutation, inheritance, and selection may evolve towards mutual alignment with the predominant directions of peak movement. (7) Evolutionary models of trait-based interaction between species (e.g., predators and prey) suggest that periods of maladaptation may be common and that trait means will equilibrate downslope from adaptive peaks.

关键词： 小麦   十倍体长穗偃麦草   双重异代换系   原位杂交   分子标记   条锈病抗性  

摘要： 十倍体长穗偃麦草[Thinopyrum ponticum(Popd.)Barkworth and Dewey]具有抗寒、抗旱、耐盐碱、茎秆粗壮、穗长花多等优异性状,是小麦遗传改良的重要基因资源。本课题组从小麦与十倍体长穗偃麦草的杂交后代中筛选出一份抗条锈病的衍生系CH18067,本研究对其进行形态学、细胞学、原位杂交、分子标记、抗条锈病性等综合鉴定。细胞学观察结果显示,CH18067的体细胞染色体数目为42条,在减数分裂中期Ⅰ的染色体构型为2n=21Ⅱ,在减数分裂后期Ⅰ同源染色体可均等分离,表明其细胞学遗传稳定。利用寡核苷酸探针Oligo-pTa535(红色)和Oligo-pSc119.2(绿色)对CH18067进行FISH鉴定,结果显示,CH18067缺失小麦2D和4D染色体,同时含有2对具有特殊带型的染色体;通过对CH18067进行FISH-GISH、mc-GISH、液相芯片以及染色体核型分析,发现2对具有特殊带型的染色体中,在长臂和短臂末端均呈现Oligo-pTa535探针红色带型的染色体为十倍体长穗偃麦草的2J染色体,在着丝粒位置和长臂末端均呈现Oligo-pTa535探针红色带型的染色体为十倍体长穗偃麦草的4J^(S)染色体,说明CH18067为小麦-十倍体长穗偃麦草2J(2D)+4J^(S)(4D)双重异代换系。在第二部分同源群和第四部分同源群分别筛选出3个特异性标记,可用于追踪小麦遗传背景中长穗偃麦草的2J和4J^(S)染色体。形态学和条锈病抗性鉴定结果显示,CH18067具有矮秆、长粒等特性,且在成株期高抗小麦条锈病。以上结果表明,CH18067可作为小麦条锈病抗性育种和遗传研究的候选种质。

关键词： 淀粉样神经病,家族性   转甲状腺素蛋白   遗传学   心脏损害  

摘要： 目的总结转甲状腺素蛋白相关家族性淀粉样变性多发性神经病(TTR-FAP)患者的临床、遗传学及预后特点。方法收集2014年9月至2022年2月于首都医科大学宣武医院神经内科确诊的无亲缘关系的14例TTR-FAP患者,对其临床表现、神经电生理、心脏功能、活组织检查病理、基因突变类型及预后进行分析。结果14例TTR-FAP患者中,男性13例,女性1例,平均发病年龄53.9岁(范围:33.0~71.0岁),起病至确诊的平均病程为4.1年,9例为晚发型,7例有阳性家族史。首发症状中,8例有双下肢远端感觉障碍,4例有上肢、四肢或单个肢体感觉运动障碍,2例有胃肠自主神经功能障碍。随疾病进展,感觉性或感觉运动性周围神经病和自主神经功能障碍是最常见的临床表现。多数患者就诊时无心脏受累明显症状,但9/13的患者心电图异常,6/8的患者存在左心室肥厚。神经传导测定结果显示四肢感觉、运动纤维以轴索损害为著,伴不同程度脱髓鞘病变。腓肠神经活组织检查镜下可见有髓神经纤维密度呈中至重度丢失,刚果红染色阳性率8/14。在发现的8种TTR基因突变类型中,V50M最为常见(出现于5例患者中)。5例患者使用氯苯唑酸治疗后疾病无明显进展,2例于发病后8、12年死于恶液质。结论TTR-FAP多见于男性,以感觉运动轴索性周围神经病、自主神经功能障碍和心脏亚临床损害为主要临床表现,V50M是本组患者最常见的致病突变,氯苯唑酸可延缓疾病进展。

关键词： 先天性秃发   先天性少毛症   遗传性单纯少毛症  

摘要： 先天性秃发/少毛症是一组罕见的单基因遗传性毛发疾病,主要临床特征为先天性毛发局限或弥漫性缺失、稀少,目前无任何有效治疗方法。基因检测明确致病性基因突变为确诊该类疾病的金标准。因该组疾病在临床特征与遗传方式上均存在一定的异质性,极易误诊误治为弥漫性斑秃或雄激素性秃发等后天性脱发疾病,因此临床医生应提高对该类疾病的认识。随着近年分子生物学技术的不断发展,迄今已鉴定出多种先天性秃发/少毛症的致病基因,并明确了其中部分基因及其相应亚型的发病机制。本文将以非综合征型先天性秃发/少毛症为研究对象,对其临床表现与遗传学研究进展进行综述,以便于临床医生全面了解该类毛发罕见病,提高临床诊治水平。