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关键词： Medical and Health Sciences not elsewhere classified   Self Determination Theory   motivation   Self-Regulation   health behaviors   epigenetics   cortisol   TNF-alpha   endocrinology  

摘要： This thesis explored the role of motivational processes in improved human functioning. There is a large body of evidence supporting the idea that higher quality motivation can have important implications for health and well-being via improved behavioural engagement. However, what is less well understood is whether there is a direct effect of motivation on physiological health beyond that which is explained by engagement with the activity itself. The aim of this thesis was to explore associations between motivational processes and biological markers implicated with improved physical health and human functioning. The programme of research began by systematically reviewing multidimensional theories of motivation and physiological responses associated with activation of the endocrine system. Across several conceptually similar theories of motivation, it was evidenced that higher quality motivation was associated with an attenuated cortisol response in a variety of environments eliciting social-evaluative threat. Furthermore, the needs for power and affiliation were associated with lower and higher levels of salivary secretory immunoglobulin A, respectively. Based on the limitations identified in the systematic review, two subsequent chapters further explored the role of high quality motivation in reducing the cortisol response. Using an experimental design grounded in self-determination theory, Chapter Three explored the effect that manipulating autonomous and controlled motivation had on participants' cortisol responses, while concurrently measuring self-control exertion. A repeated measures ANCOVA revealed a significant quadratic interaction (F (1, 32) = 5.40, p =.027, ηp2 = .14). Participants in the controlled regulation condition experienced an increased, with autonomy supportive experiencing a decreased, cortisol response. There was also evidence of motivational effects on self-control performance, although the results contradicted the hypothesis. A mixed ANCOVA r

关键词： Biology   Genetics   Conservation biology  

摘要： The southeastern United States harbors one of the most diverse temperate fresh water fish regions of the world. Unfortunately, due to improper land use practices and habitat degradation, owed primarily to humans, many of the species in this region are imperiled and may become extinct without appropriate conservation efforts. This study looks to provide a robust analysis of the population dynamics of an endangered endemic of southwest Kentucky, the Relict Darter (Etheostoma chienense) and its sister taxa, the undescribed but recognized Clarks Darter (Etheostoma cf. oophylax). Mitochondrial sequence data coupled with SNP data were used to infer population structure, gene flow, genetic variation, and effective population sizes of both species. This study suggests that the endangered Relict Darter has low levels of genetic variation throughout its range as well as a dangerously low effective population size, likely the result of a population bottleneck and subsequent genetic drift. It is suggested that conservation efforts be taken to supply more genetic variation to the Relict Darter before it is too late. The Clarks Darter showed some genetic variation among distant sites, but more samples are needed throughout the range in order to fully understand the population dynamics of this species.

ISBN: (数字)9780128167335 ISBN: (纸本)9780128163634

摘要： Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research.

关键词： 子痫前期   Wnt2基因   发病机制   滋养细胞   细胞增殖   细胞凋亡   生物学行为   表观遗传学   甲基化  

摘要： 研究背景子痫前期(PE)是妊娠期特有的疾病,临床上以妊娠20周以后出现高血压、蛋白尿为特征,在全球范围内妊娠妇女的发病率约为2%～8%。子痫前期对母儿的危害均较大,是孕产妇及围产儿死亡率增高的主要原因之一,因此能够尽早诊断和有效治疗非常重要。子痫前期的发病机制颇为复杂,至今尚未完全阐明,目前以“子宫螺旋小动脉重铸不良、胎盘浅着床学说”最为学界所认可。该学说认为,子痫前期患者胎盘形成的早期,滋养细胞增殖及分化异常,伴凋亡过多,引起滋养细胞浸润能力下降、侵入子宫壁受限,进而引起子宫螺旋小动脉重铸不良及胎盘着床过浅,出现胎盘低血流量从而导致子痫前期的发病。妊娠的成功维持有赖于多个基因及信号转导通路的参与,越来越多的研究发现,在胎盘形成及发育过程中Wnt信号通路扮演着重要角色。Wnt2基因是Wnt基因家族的重要成员,是被识别的第二个Wnt基因。动物实验研究发现,将小鼠的Wnt2基因靶向破坏,其子代的出生体重下降,且半数于围产期死亡。另外,Wnt2基因突变导致胎儿毛细血管减少、纤维质沉积增加,并导致胎盘血管生成缺陷相关的胎盘异常。表观遗传学修饰通过改变基因组DNA对转录因子的可访问性,从而影响基因的活动。胎盘的表观遗传学调控指的是,在不改变DNA核苷酸序列的前提下,通过DNA甲基化、组蛋白修饰、RNA调控等方式来调控基因的表达,从而影响胎盘中相应蛋白的合成,以调节胎盘的发育。DNA甲基化是研究最广泛、特征最明显的表观遗传学修饰模式,人类胎盘中异常的表观遗传模式,尤其是易感基因启动子区的DNA甲基化状态的改变,与多种妊娠相关并发症的病理生理学有关。动物实验研究结果显示,双酚A导致小鼠胎盘Wnt2基因启动子区的DNA甲基化程度增加,引起Wnt2表达下调,引发小鼠出现子痫前期样综合征。我们推测在人类子痫前期的发病过程中,Wnt2基因的表观遗传学调控异常导致基因表达的变化,进而影响滋养细胞的生物学行为,可能参与了子痫前期的发病机制。本研究旨在通过对胎盘组织中Wnt2基因的表达及调控机制的研究,探讨Wnt2基因在子痫前期发病的分子机制中的发挥的可能作用,为子痫前期的临床诊断和治疗提供新的理论依据。第一部分 Wnt2基因在子痫前期患者胎盘组织中的表达的研究研究目的:研究早发型重度子痫前期患者、晚发型重度子痫前期患者及正常晚期妊娠妇女胎盘组织中Wnt2基因mRNA及蛋白的表达,探讨Wnt2基因在子痫前期发病中的作用。研究方法:1.研究对象:选取2018年1月至2018年12月在滨州医学院附属医院产科病房经剖宫产分娩的早发型重度子痫前期患者30例作为早发型重度子痫前期组(ZPE),晚发型重度子痫前期患者30例作为晚发型重度子痫前期组(WPE),随机选取同期住院经剖宫产分娩的正常晚期妊娠妇女30例作为对照组(NC)。2.实验方法:采用qRT-PCR技术检测早发型重度子痫前期患者、晚发型重度子痫前期患者及正常晚期妊娠妇女胎盘组织中Wnt2 mRNA的表达,并采用Western blot技术及免疫组织化学技术检测Wnt2蛋白的表达。研究结果:1.早发型重度子痫前期组、晚发型重度子痫前期组和对照组三组之间比较,在山东大学博士学位论文平均年龄、体重指数、胎次方面差异均无统计学意义(P>0.05)。对照组与早发型重度子痫前期二组之间比较,在分娩孕周、收缩压、舒张压、尿蛋白量、新生儿出生体重及新生儿1min Apgar评分方面,差异均有统计学意义(P<0.05)。对照组与晚发型重度子痫前期组二组之间比较,在分娩孕周、收缩压、舒张压、尿蛋白量、新生儿出生体重及新生儿1min Apgar评分方面,差异均有统计学意义(P<0.05)。早发型重度子痫前期组与晚发型重度子痫前期组二组之间比较,在收缩压、舒张压、尿蛋白量方面,差异均无统计学意义(P>0.05);在分娩孕周、新生儿出生体重及新生儿1min Apgar评分方面,差异均有统计学意义(P<0.05)。***-PCR检测结果显示早发型重度子痫前期组患者胎盘组织中Wnt2 mRNA的相对表达量低于对照组,差异有统计学意义(P<0.05);晚发型重度子痫前期组患者胎盘组织中Wnt2 mRNA的相对表达量低于对照组,差异有统计学意义(P<0.05);早发型重度子痫前期组患者胎盘组织中Wnt2 mRNA的相对表达量较晚发型重度子痫前期组低,差异具有统计学意义(P<0.05)。*** blot检测结果显示,早发型重度子痫前期组患者胎盘组织中Wnt2蛋白的表达量低于对照组,差异有统计学意义(P<0.05);晚发型重度子痫前期组患者胎盘组织中Wnt2蛋白的表达量低于对照组,差异有统计学意义(P<0.05);早发型重度子痫前期组患者胎盘组织中Wnt2蛋白的表达量较晚发型重度子痫前期组低,差异具有统计学意义(P<0.05)

关键词： Botany   Systematic biology  

摘要： Grammitids are a large monophyletic group of primarily epiphytic ferns in Polypodiaceae. Genera Oreogrammitis, Radiogrammitis and Themelium (ORT) formed a clade in grammitid phylogeny where three genera are polyphyletic in the ORT clade. A study was conducted to delineate the phylogenetic relationships of the ORT group by using intensive taxon sampling and with nine genetic markers from both nuclear and chloroplast genomes. Gene sequences were analyzed in maximum likelihood and Bayesian algorithms. Nuclear gene trees and nuclear and plastid gene trees were summarized to construct species trees under multi-species coalescent method in ASTRAL program. All the analyses with higher number of species and data revealed that the three genera are polyphyletic. Thus, taxonomic revisions are suggested. Oreogrammitis must be redefined to include Radiogrammitis and Themelium. Oreogrammitis hookeri is an endemic Hawaiian grammitid fern. It is one of the three Hawai‘i endemic Oreogrammitis species. Oreogrammitis hookeri can be found in all the major islands in Hawaiian archipelago whereas the other two species have limited distribution. Some populations of O. hookeri contain unique alleles and the species may have been undergoing incipient speciation or represent cryptic species complex. Current study was conducted to investigate the population structure of O. hookeri with populations sampled from all the major islands except Lanai. Double Digest Restriction Site Associated DNA sequencing (ddRADseq) technique was used to generate genomic data. Analysis of 176 loci in STRUCTURE program showed that there are two genotypes in O. hookeri. Populations collected from Kauaʻi and Mauna Loa, Hawai‘i is one genotype and Oʻahu and Kilauea, Hawai‘i is another genotype. Maui and Molokaʻi contain both genotypes. Incipient speciation or existence of cryptic species of O. hookeri can be ruled out because Maui-Molokaʻi genetic cluster contain both genotypes thus it supports the idea that individu

ISBN: (数字)9780128148808 ISBN: (纸本)9780128148792

摘要： Epigenetics and Regeneration compiles the first foundational reference on epigenetic mechanisms governing tissue development, repair, homeostasis, and regeneration, as well as pathways to employ these mechanisms in clinical practice and translational science. In this book, life science researchers, clinicians, and students will discover an interdisciplinary resource bringing together common themes in the field, background overviews, research methods, recent advances, and opportunities for drug discovery. Throughout this volume, special attention is paid to pre-clinical and first clinical studies aimed at increasing the regenerative potential of damaged tissues by epigenetic drugs, as well as innovative, discipline spanning strategies to enhance cell reprogramming. As an all-inclusive, evidence-based volume, Epigenetics and Regeneration will stimulate discussion and boost new research in this fascinating and impactful area of translational epigenetics.

关键词： 额颞痴呆   语义性痴呆   肌萎缩侧索硬化   TBK1基因   基因突变  

摘要： 目的报道1例额颞叶痴呆合并肌萎缩侧索硬化(FTD-ALS)患者,回顾目前国内外报道中国该病的相关文献,并总结FTD-ALS的临床及遗传学特点。方法本文报道一例于2017年5月就诊安徽医科大学第一附属医院神经内科的FTD-ALS患者,进行多次随访收集患者的详细临床资料,使用简易智能状态量表(MMSE)、蒙特利尔认知评估(Mo CA)等多种神经精神量表对患者进行认知功能评估;并采用含乙二胺四乙酸(EDTA)的抗凝采血管分别采集患者及其一级亲属外周静脉血各5ml,-20℃保存,使用提取试剂盒提取血液DNA,取1.5μg DNA样本进行超声打断,得到50-200 bp的DNA片段,构建DNA文库。真空浓缩DNA文库样本进行杂交捕获,取捕获后的DNA样本进行高通量测序。测序数据经美国Illumina公司的顺序控制系统(SCS)评估合格后,进行数据读取和生物信息学分析。检索目前国内外所有已详细报道的中国人FTD-ALS病例,对该病的临床及遗传学特点进行总结和分析。结果本例报道的患者为中年男性,临床表现为反应迟钝、逐渐加重的命名及词汇理解障碍,头颅影像学提示有颞叶萎缩;后逐渐出现饮水呛咳以及多处肌肉萎缩伴肌束颤动,病理征及原始反射均阳性,肌电图提示广泛神经源性改变,符合FTD-ALS诊断标准。在TBK1基因上发现有新的杂合突变(c.1335G>A chr12:64879792 p.W445X),参考美国医学遗传学和基因组学会(ACMG)相关指南提示该突变变异类型为疑似致病突变,但目前尚未被人类基因突变数据库(HGMD)报道过。至今为止国内外总共报道有详细资料的中国FTD-ALS患者共25例,男性15例,女性10例,平均发病年龄在(58.44±8.40)岁,多数以FTD为首发症状,继而出现ALS,两组症状间隔时间平均11.86±7.01月。已知有9例完善遗传学检测,7例有阳性结果,发生突变的分别为TBK1基因2例,C9orf72、TRPM7、DCTN1、TARDBP、α-球蛋白基因各一例。多数为散发型FTD-ALS(包含本例),仅3例为家族型FTD-ALS。结论FTD-ALS病例较为罕见,多以散发型为主,平均发病年龄较轻,痴呆以变异型FTD为主要临床表现,且患者的认知障碍表现多先于ALS;除C9orf72之外,TBK1也是FTD-ALS的重要致病基因之一,遗传学检测对该疾病的诊断具有重要意义。

关键词： 苹果   基因组   群体结构   驯化   种群历史  

摘要： 栽培苹果（Malus domestic Borkh）,是一种非常受欢迎的水果。关于栽培苹果的起源和驯化,学者们曾对此进行过大量的研究,但是由于其驯化过程复杂、驯化时间长,在这个问题上存在一些争议。另外,在栽培苹果的群体结构方面也没有相关的研究。栽培苹果有着什么样的群体遗传结构?其是否起源于欧洲森林苹果?驯化作用影响了苹果基因组上的哪些基因?本实验基于苹果属植物群体的全基因组SNP图谱对上述问题展开了研究。首先,通过主成分分析、个体血统分析、以及分子系统发育树分析等方法对苹果属植物的群体结构进行了研究、其次,通过近似贝叶斯计算、递次式对偶溯祖等方法对苹果属植物的种群历史进行了研究,最后,通过选择性清除分析研究了人工选择对苹果基因组产生的影响。主要的研究结果如下:1.揭示了栽培苹果的群体结构。基于SNP数据对苹果属植物进行了群体结构分析,结果表明旭苹果、红玉苹果的遗传多样性较高,有着较高的育种潜力。基因流分析表明栽培苹果中不同亚群体间存在广泛的基因流,旭苹果、红玉苹果和野生苹果之间存在较强的基因流。2.通过选择性清除分析鉴定出245个受到人工选择的基因组区域,共包含1,900个基因。基因富集分析结果表明这些基因主要和抗逆性、糖代谢以及细胞壁修饰有关。在15号染色体上发现一个明显的受选择信号,该区期内编码细胞色素P450酶的基因（MD15G1050400、MD15G1050500、MD15G1050600、MD15G1050700）以及MYB结构域蛋白的基因（MD15G1050300、MD15G1050900、MD15G1051000、MD15G1051100）可能在苹果的驯化过程中发挥着重要的作用。

关键词： 骨髓增生异常综合征   骨髓涂片   骨髓活检   免疫分型   细胞遗传学  

摘要： 目的:通过收集分析81例骨髓增生异常综合征(Myelodysplastic syndrome MDS)患者的临床资料,以总结归纳MDS患者的基本临床特点及实验室检查特点,统计分析四种检测方式单独(单独使用骨髓涂片)、二联(联合使用骨髓涂片+骨髓活检)、三联(联合使用骨髓涂片+骨髓活检+免疫分型)及四联(联合使用骨髓涂片+骨髓活检+免疫分型+细胞遗传学)使用对于MDS的诊断符合率,为临床医生提高MDS的诊断率提供思路。方法:选择2014年1月至2019年1月于甘肃省人民医院初诊并符合纳入及排除标准的81例MDS患者,回顾性分析归纳患者的完整临床资料,运用SPSS 21.0对部分数据进行处理。结果:1.81例MDS患者中,男性患者39例,女性患者42例,年龄分布范围为16岁0岁,中位年龄60岁,患病人数最多的处于600岁人群,占比32.50%。2.81例MDS患者最常见的临床表现为头晕、乏力等贫血症状,75例患者均出现头晕、乏力症状(92.60%);均存在不同程度的血细胞减少,以三系减少者最多,共59例,占比72.84%。3.骨髓涂片中提示病态造血以累及二系、三系者最多见,分别为34例(41.98%)、27例(33.33%);骨髓活检中,有23例患者出现不成熟前体细胞异常定位(ALIP,Abnormal localization of immature precursors)现象(28.40%),伴骨髓纤维化者9例(11.11%)。免疫表型出现异常者共56例(69.14%);染色体核型异常者38例(46.91%),复杂核型者为16例(19.75%),最常见的几种异常染色体为:+8、-Y、5q、-7、20q等。4.12例患者转化为急性髓系白血病(Acute myeloid leukemia,AML)(14.81%),以M最多见,共7例(占比58.33%),其中染色体核型异常者9例(占异常者的23.68%)。5.单用骨髓涂片、二联(骨髓涂片+骨髓活检)、三联(骨髓涂片+骨髓活检+免疫分型)、四联(骨髓涂片+骨髓活检+免疫分型+细胞遗传学)诊断MDS的诊断符合率分别为48.15%、64.20%、79.01%、91.36%。结论:1.骨髓活检在评估骨髓增生程度、骨髓纤维化及骨髓造血组织结构等方面优于骨髓涂片。***患者染色体核型异常者较正常者转化为急性髓系白血病的概率更高。3.骨髓涂片、骨髓活检、免疫分型、细胞遗传学四种检测技术各有优缺点,可相互弥补不足,联合应用可提高MDS的诊断率。