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关键词： 高胆红素血症,新生儿   基因   遗传学研究  

摘要： 新生儿高胆红素血症是胆红素的产生与代谢能力不平衡所致,其病因复杂,遗传因素对胆红素的影响越来越被人们所认识。胆红素代谢途径的相关研究中,尿苷二磷酸葡萄糖醛酸转移酶(uridine diphosphate glucuronosyltransferase,UGT)、有机阴离子转运多肽(organic anion transporting polypeptide,OATP)、血红素加氧酶(heme oxygenase,HO)、胆绿素还原酶(biliverdin reductase,BLVRA)4个基因与新生儿高胆红素血症的相关性报道较多。本文对以上4个基因的研究进展进行综述。

关键词： 动物遗传学   人文教育   课程改革   双语教学  

摘要： 《动物遗传学》是农林高校生命科学和动物科学相关专业的重要基础课程,更是从事生命科学研究的重要背景课程。进一步提高《动物遗传学》课程教学效果,进一步发挥中国特色高等教育课程的全面育人职能是农林院校《动物遗传学》课程教学的重中之重,而进行课程改革是提高教学质量的有力手段之一。本文从《动物遗传学》课程的教学现状与存在问题出发,利用一系列教学改革手段探索如何提高《动物遗传学》教学质量,以期为相关院校课程教学建设提供建议与参考。

关键词： 遗传学   教学改革   前沿性   理论与技术  

摘要： 现代遗传学理论和技术的迅猛发展及其广泛应用,对高校"遗传学"课程教学的时代性、前沿性等提出了新的要求。基于"遗传学"课程教学的具体实践,采用典型案例讲解、翻转课堂、专题讲座、互联网辅助、创新性实验与实践教学等教学方式,将国际前沿理论知识和技术融合于"遗传学"课程教学中,保证了该课程教学内容的系统性和创新性,优化了"遗传学"课程教学体系,提高了本科生教学质量。

关键词： 嗜铬细胞瘤   副神经节瘤  

摘要： 嗜铬细胞瘤是起源于肾上腺髓质分泌儿茶酚胺的罕见神经内分泌肿瘤。来自肾上腺外嗜铬组织的肿瘤称为肾上腺外嗜铬细胞瘤或副神经节瘤。嗜铬细胞瘤/副神经节瘤是人类肿瘤中遗传可能性最高的,60%PPGL患者与遗传相关。随着各种基因测序技术的成熟发展,通过基因筛查可以充分了解PPGL的临床表型与基因型的关系。本文通过分析肿瘤的常见基因突变的特点,从而帮助指导个性化治疗,辅助制定基因筛查策略。

关键词： 医学遗传学   实验教学   教学改革  

摘要： 医学遗传学是医学与遗传学相结合的一门前沿学科,是医学生基础课程之一,同时也是基础课程和临床学科承上启下的重要桥梁。医学遗传学的理论课程相对抽象,学生理解比较困难,因此,在理论教学的过程中有必要设计一些实验,将抽象的理论知识运用于具体实验,能够帮助学生加深对知识点的理解和掌握,同时也能锻炼学生的动手能力。空军军医大学既往开设的遗传学实验课形式上相对陈旧、枯燥,对于提高学生的实践能力作用也有限。通过改革医学遗传学实验教学,调动学生学习积极性,提高教学效果。

关键词： 痤疮   遗传学   基因多态性  

摘要： 痤疮是一种由多基因遗传决定、多种环境因素共同作用引起的毛囊皮脂腺慢性炎症性疾病,其发病机制十分复杂。目前影响痤疮发病的具体基因仍不清楚。随着人类基因多态性的发展,现已证实基因多态性与痤疮的相关性。该文将从各种细胞因子、核转录因子等几个方面阐述痤疮的易感基因多态性的研究现状。

关键词： 遗传学   鉴定   46,X,idic(Y)/45,X  

摘要： 等臂双着丝粒 Y 染色体[idic(Y)]的形成原因可能是经过断裂之后姐妹染色单体融合,而无着丝粒片段在精子细胞形成的配子形成过程中丢失[1]。 Idic(Y)发病率低下,国内外鲜有发生,染色体结构重排的复杂性、Y 染色体特异基因的存在或缺失、嵌合比例的不同等因素,均可导致 idic(Y)患者在形体、外阴及性腺等临床表现呈多样化[2,3]。

关键词： 动物遗传学   实验教学   教学改革   主动学习  

摘要： "动物遗传学"是我校动物科学专业必修的专业基础课程,是连接基础课程和专业课程的重要桥梁。本文针"动物遗传学"课程实验教学中存在的问题,通过将原来理论课附带实验开课模式调整为独立开课、自编配套实验教材、调整教学大纲和实验内容、改进教学方式、完善实验成绩评定方式等措施,来提高实验教学质量,促进学生实验积极性,培养学生的主动学习能力和创新能力。

摘要： Given a statistical model that attempts to explain the data, calculating the Bayes' posterior distribution of the models parameters is desirable. The marginal likelihood of the model is also of interest, which is used for model comparison. However, for most applications, only estimates of these two measurements can be obtained with a class of methods that give consistent estimates being Monte Carlo algorithms. This thesis attempts to improve both the process in inferring a high-dimensional posterior distribution and the corresponding model marginal likelihood, on the con- dition that we can define an ordered set of statistical models in which deterministic transformations between each adjacent model can be applied. We propose an adap- tion of the sequential Monte Carlo algorithm, which we term the "transformation Sequential Monte Carlo" algorithm. The key feature of this algorithm is by defining a series of target distributions, that make use of said mentioned model transformations, we aim to infer high dimensional models by using easier to estimate posteriors from lower dimensional models with a model transformation applied. Our proposed algorithm has advantages over many established MC methods. One notable advantage is that we can tailor the algorithm if we wish to update a posterior distribution by including additional observations, but these observations also correspond to a new parameter set that needs to be inferred. Alternatively it is useful where the parameter space can become too large to explore using basic MC methods, for example if there exists an exponential or factorial relationship with observation size and the number of discrete values, but using a lower dimensional model and incorporating it into the model exploration assists with convergence. We test these strengths of tSMC under three applications, which include two population genetics applications being ancestral reconstruction under the coalescent and the other being the Structure algorithm.

关键词： Ovine behaviour   Ovine genetics   Animal welfare Western Cape   Sheep industry Production practices   Sheep Breeding   UCTD  

摘要： Data were collected on a Merino resource flock on the behaviour of ewes and lambs from 1993 to 2002. This flock was divergently selected from the same base population since 1986 for the number of lambs weaned per mating (NLW). Selection resulted in two selection lines, namely the High line (H line, upward selection for NLW) and the Low line (L line, downward selection for NLW). Additionally, the effect of these behaviours and selection lines were reported for NLW and lamb survival, as a key welfare indicator trait. Data from arena behaviour on Merino weaners were also collected over a 15-year period using the same resource population divergently selected for NLW. Ram lambs, progeny of mature ewes and singles were heavier at birth than ewe lambs, progeny of young and old ewes and multiples respectively. H line lambs had shorter lengths of parturition than L line lambs, where this difference was also found in H line and L line ewes. The effects of dam age were significant for the latency from birth to suckling as it improved with ewe age, and in both ewe and lamb studies H line ewes had better maternal cooperation scores than L line ewes. Maternal cooperation also had a significant effect on the latency for the lamb to progress from birth to suckling and maternal cooperation score improved with age in ewes. H line ewes had an improved NLW compared to L line ewes while H line lambs had a better survival. For production traits, H line lambs derived from embryo transplants were heavier at yearling age, had a lower fibre diameter, less wrinkles at the neck, body, breech and overall when compared to L line lambs. Survival of lambs reared by surrogate dams was higher in the H line than in the L line. Single-trait direct heritability estimates (h²) in lambs were 0.15 for birth weight, 0.07 for lamb survival, 0.06 for length of parturition, 0.12 for latency from birth to suckling and 0.00 for maternal cooperation score. Direct heritability estimates, assessed as trait of the