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关键词： Horticulture  

摘要： Camellia L., the most speciose member of the diverse tea family Theaceae, has a long and complex horticultural history. Extensive cultivation and hybridization have produced thousands of varieties of Camellia including commercially important crops such as cultivated tea and Camellia oilseed, as well as iconic ornamentals. Cytogenetics of Camellia and related genera is complicated: chromosome number and ploidy can vary widely between species and interspecific and interploidy hybridization occurs. However, specific information on cytogenetics of many species, cultivars, and modern hybrids is lacking. The objectives of this study were to compile a consolidated literature review on the cytogenetics of Camellia and related genera and to determine chromosome numbers, ploidy, and genome sizes of specific accessions of selected species, cultivars, and interspecific and interploid hybrids. A review of the existing literature on Theaceae cytogenetics is presented as a consolidated reference covering 362 taxa. Genome sizes were determined with flow cytometry using propidium iodide as a fluorochrome and Pisum sativum ‘Ctirad' and Magnolia virginiana ‘Jim Wilson’ as internal standards. Chromosome numbers of selected taxa were determined using traditional cytology and were used to calibrate genome sizes with ploidy level. Our results confirmed a base chromosome number of x = 15 in the Theeae including Camellia, x = 17 in the Stewartiae, and x = 18 in the Gordoniae. Surveyed camellias ranged from 2n = 2x = 30 to 2n = 8x = 120, including diploids, triploids, tetraploids, pentaploids, hexaploids, and octoploids. Previously uncharacterized taxa including Camellia azalea, C. amplexicaulis , C. chrysanthoides, C. cordifolia, C. cucphuongensis, C. flava, C. nanyongensis, and C. trichoclada were found to be diploid. Ploidy was also newly determined for Schima argentea, S. khasiana, S. remotiserrata and S. sinensis (all diploids); both diploid and triploid Stewartia ovata were found; and

ISBN: (数字)9780128167274 ISBN: (纸本)9780128162224

摘要： Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research.

关键词： 糖尿病   糖尿病类型   糖尿病流行   诊断   病因学   遗传学  

摘要： 糖尿病是临床上一种非常常见的疾病,是一种葡萄糖代谢异常和内分泌障碍的遗传倾向疾病,它主要是因为胰岛素分泌不足或者是绝对分泌引起的.近几年,很多著名的医学家、生物学家做了大量生物领域的分子遗传学的研究,并且受到社会各界的广泛关注.在此,本文对这一领域的各类型的糖尿病的分子遗传学的进展进行简单的分析.虽然当前在细胞和分子水平的积累上进行了大量的探究,但糖尿病的并发症及发展几只都没有得到明确.因此,这一领域的研究还需更多的研究,从而提高疾病的诊断,让其得到有效的治疗,并降低慢性并发症的发病率.

关键词： 蛋白质   遗传学   人体健康  

摘要： 在人体的构造中,水和蛋白质是构成人体的量大主要成分,可见 蛋白质与人体健康有着密切的关系.基于这种重要作用,人体对蛋白质的需 求量也是非常大的,关于蛋白质与人体健康之间的关系,具体来说,其既是人体健康的一种保障性物质,从遗传学的角度上来讲,许多威胁人体健康的遗传学疾病,也是以蛋白质为载体进行传播和携带的,从这个角度来讲,蛋白质与人体健康的关系的密切感就更加凸显出来了.

关键词： Epigenetics.   Genetic regulation  

ISBN: (数字)9780192567161 ISBN: (纸本)9780198831204

摘要： Provides a framework to understand the basis of epigenetic regulation and to appreciate both its derivation from genetics and interdependence with genetic mechanisms. It further aims to highlight the role of the three-dimensional organization of the genetic material itself and its distribution in a functionally compartmentalized nucleus.

关键词： 拟斯卑尔脱山羊草   超数染色体(Bs)   染色体累积   花粉有丝分裂   细胞遗传学  

摘要： 当染色体从亲代到子代的遗传效率违背孟德尔分离定律大于50%时,表明染色体发生累积。尽管超数染色体(supernumerary B chromosomes,Bs)和其他某些遗传物质表现出类似的累积行为,但Bs累积的细胞和分子机制却少见报道。超数染色体是一类对机体非必须的,在减数分裂期间通常不与标准染色体(standard chromosomes,As)配对的超数染色体。在某些植物尤其是禾本科含有超数染色体的居群中,超数染色体的累积发生在雄配子形成过程中。本研究分析了小麦野生二倍体物种-拟斯卑尔脱山羊草(Aegilops speltoides Tausch)在花粉第一次有丝分裂过程中超数染色体不分离的原因,为揭示Bs在该物种的累积提供了细胞遗传学的依据。获得如下研究结果:(1)为了避免花粉壁对免疫荧光蛋白和荧光原位杂交探针信号的屏蔽,本研究对花粉第一次有丝分裂中后期的花药进行组织切片。着丝粒组蛋白H3异构体和微管蛋白抗体用来检测Bs在花粉第一次有丝分裂时期不分离的原因。研究发现在花粉第一次有丝分裂后期,不分离的Bs落后于正常分裂的As,其姐妹染色单体的着丝粒有活性且与微管蛋白正常连接。因此,推测花粉第一次有丝分裂过程中,细胞的不对称分裂导致落后的Bs被包裹在离成膜体更近的生殖核一极,以此来确保Bs有效累积。花粉第二次有丝分裂过程中,Bs姐妹染色单体在生殖核中正常分离。因此,成熟花粉中的两个生殖核内均包含有未减数的Bs,通过受精作用传递到子代。(2)为了快速有效的测量Bs的累积效率,本研究结合流式细胞仪、免疫荧光蛋白以及荧光原位杂交,测量含有Bs的生殖核和营养核以及不含有Bs的营养核。通过检测1B-6B植株的成熟花粉,本研究得出:Bs在生殖核内高效累积,其效率大于93%,在营养核中的分布机率小于7%,且Bs的累积与其在个体内的数量无关。(3)为了分析As和Bs的(近)着丝粒DNA组成是否相同,本研究选取11条与***亲缘关系较近的小麦族物种的着丝粒序列,在***+B有丝分裂中期细胞和减数分裂粗线期细胞中观察探针的信号分布。结果显示:6C6-3/4、CRW2和RCS2在As和Bs染色体上信号分布和强度相似;192 bp、CCS1、Quinta-LTR和Weg 1-LTR在Bs上的信号相对As较弱;Taili重复序列在Bs信号强;而pBs301和CenSR在Bs上完全缺失。除pBs301和CenSR只分布在As的近着丝粒区外,其余9个探针的分布都从着丝粒区延伸到近着丝粒区。因此得出As和Bs的(近)着丝粒DNA虽然拷贝数有差异,但两者重复序列组成类似,表明*** Bs可能是种内杂交起源。禾本科物种拟斯卑尔脱山羊草和黑麦的Bs累积机制类似,可能它们起源于共同祖先物种中的Bs或是在禾本科的演化过程中两个物种中的Bs有类似却独立起源机制。

关键词： 多发性骨髓瘤   炎症小体   单核苷酸多态性   NLRP3   NLRP3炎症小体   SNPs   Th细胞   细胞凋亡  

摘要： 背景:多发性骨髓瘤（MM）是一种可以危及生命的浆细胞恶性肿瘤,其发病机理尚不完全清楚,标准治疗也尚未精准确立。迄今为止,许多研究已证明基因和免疫学的改变参与了 MM的发病机制,进一步探索其免疫机制并从中找到MM的治疗靶点是至关重要的。炎症小体在免疫系统中扮演着至关重要的角色,它可以触发先天免疫防御,并促进适应性免疫反应[1]。炎症小体被激活后引起炎症级联反应,释放IL-1β、IL-18、IL-22和TNF-α等细胞因子,激活下游的NF-κB信号通路,可导致组织损伤及肿瘤发生。然而,随着研究的进一步深入,证明炎症小体对肿瘤的发生是一把双刃剑,具有促进和抑制双重作用。目前研究最多的是NLRP3炎症小体,它是一种蛋白复合体,由Nod样受体蛋白3（Nod like receptor protein 3,NLRP3）,凋亡相关斑点样蛋白（apoptosis-associatedspeck-like protein containing a CARD,ASC）和半胱氨酸天冬氨酸蛋白酶（caspase-1）组成。NLRP3炎症小体活化后负责促炎细胞因子的成熟和分泌,如IL-1β和IL-18[2]。胱天蛋白酶募集域蛋白8（caspase recruitment domain containing protein 8,CARD8）控制caspase-1 的活化,并调控caspase-1介导的IL-1β和IL-18的激活[3]。一些研究表明,炎症小体参与了 MM的病理机制[4]。NF-κB是一种重要的炎症相关的信号分子,其所在的NF-κB信号通路参与NLRP3炎症小体的调控,它涉及骨髓微环境中骨髓瘤细胞的生长和存活。另外,NF-κB信号通路下游炎症分子IL-6对骨髓瘤细胞的生存也很重要,IL-6与炎症小体的相关性鲜有报道。已证实炎症小体相关基因的单核苷酸多态性（SNPs）与多种疾病的发生发展相关,如风湿性关节炎、强直性脊柱炎、黑色素瘤、肝癌、肺癌和卵巢癌等。然而,在MM中,NLRP3炎症小体相关基因单核苷酸多态性（SNPs）的作用还没有得到明确的阐明。我们研究了多发性骨髓瘤患者NLRP3炎症小体相关基因SNPs:CARD8（rs2043211）、NF-κB-94 ins/del（rs28362491）、IL-11β（rs16944）、IL-18（rs1946518）,及基因表达（CARD8、NF-κB、IL-1β、、IL-18）,并探索它们与多发性骨髓瘤临床特点的相关性。目的:1.在NLRP3炎症小体相关基因的SNPs中查找多发性骨髓瘤的易感因素;2.研究NLRP3炎症小体相关基因的SNPs与MM临床特点的相关性;3.研究NLRP3炎症小体相关基因的SNPs与相应基因表达的相关性。方法:1.应用聚合酶链反应（PCR）检测355例MM病例组及350例正常对照组CARD8（rs2043211）、NF-κB-94 ins/del（rs28362491）、IL-1β（rs16944）、IL-18（rs1946518）的SNPs;2.应用逆转录聚合酶链反应（RT-PCR）检测42例MM患者NF-κB、CARD8、IL-1β、IL-1 8mRNA 的表达;3.应用酶联免疫吸附测定（ELISA）方法检测42例MM患者骨髓上清IL1β、IL-18、IL-6 的浓度。结果:***8-C10X（rs2043211）AT基因型为MM 的易感因素。CARD8-C10X（rs2043211）TT基因型患者相对于AA、AT患者有较早的分期。白细胞计数在携带三种不同CARD8-C10X（rs2043211）基因型的MM患者中呈递增趋势（AA

关键词： 虚拟仿真   动物遗传学   特点  

摘要： 虚拟仿真技术是通过将一个现实存在或抽象的事物利用一个虚拟的系统模仿现实的技术。将仿真技术的直观性引入动物遗传学课程教学中,直接丰富了课程内容,又因加入动画元素大幅度提高了学生听课效率,加深了学生对生命现象和遗传机制的理解。

关键词： Wildlife conservation   Ecology   Zoology  

摘要： Habitat loss and fragmentation represent significant threats to North American crayfish diversity. Assessments of genetic diversity within and among populations of imperiled species can provide a baseline for determining the relative impacts of contemporary anthropogenic threats such as habitat fragmentation to population connectivity, as well as aid in identifying historical factors that contribute to population structure. Cambarus pristinus, a species of conservation concern and a headwater-stream adapted crayfish endemic to the Cumberland Plateau in Tennessee, exhibits a disjunct distribution within 4th order or lower tributaries of the Caney Fork and Big Brush Creek systems and is comprised of two morphologically distinct forms, the nominal Caney Fork form (Caney Fork system) and the Sequatchie form (Caney Fork and Big Brush Creek systems). Habitat degradation from activities such as silviculture and strip mining have been observed throughout the Cumberland Plateau and Cambarus pristinus has experienced recent local extirpations. Our objectives were to examine variation in mitochondrial DNA (COI) and nuclear alleles (microsatellites) to provide estimates of phylogeographic relationships and contemporary levels of genetic structure, respectively, within C. pristinus. We predicted that changes in stream hydrology, physiographic regions, and drainage divides would contribute to long-standing isolation among populations separated by these features. We also expected recent anthropogenic disturbances and population loss to have further impacted population connectivity and lead to reduced genetic diversity and increased population isolation relative to historic levels. Assessment of variation in mitochondrial haplotypes and phylogeographic relationships found low haplotype divergences and broadly shared haplotypes within each morphological form, implying that gene flow was maintained among populations within a form at some level historically, and that geographic featur

关键词： 微生物遗传学   物种互作   遗传调控   基因编辑  

摘要： 微生物遗传学是一门具有悠久历史的学科,微生物遗传学研究不仅为遗传学中一些基本理论的阐明奠定了基础,还有力推动了分子生物学的发展。从DNA是遗传物质的证明,到"一个基因一种酶"的假说,再到近年来的CRISPR/Cas9基因编辑技术,都离不开微生物遗传学的发展。随着基因组测序技术的迅猛发展,微生物遗传学也迎来了全面快速发展的时期,我国微生物遗传学研究在与微生物生理代谢、微生物组学、环境微生物学、合成生物学等学科的交叉融合中取得了长足进步。《微生物学通报》本期推出了"微生物遗传学主题刊",旨在展现我国微生物遗传学研究的最新进展和成果,促进我国微生物遗传学的交流和发展。