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摘要： This thesis investigates the prospects of reducing a constructive set theory to a framework of intuitionistic mereology. Such a reduction would constitute a constructive analogue of David Lewis's megethology. I study properties of intuitionistic plural logic and of different systems of intuitionistic mereology based on this plural logic. In particular, I discuss with which restrictions certain results from classical plural logic also apply to intuitionistic plural logic; I examine which extensionality principles hold in which of the mereological frameworks under investigation; and I show that parthood and identity covary with respect to certain decidability properties in these frameworks. These results inform a discussion of the philosophical appeal of such frameworks, especially in view of a possible reduction of set theory. Focusing on one mereological system in particular, I arrive at an equi-interpretability result with intuitionistic plural logic, and give some indications what a set theory based on it might look like.

摘要： This study analyzed the genetic structure of mountain bluebirds (Sialia currucoides) from across their range using restriction site-associated DNA sequencing to find single nucleotide polymorphisms. I found evidence of at least four distinct genetic clusters, two of which were in Alberta. I then went on to hypothesize current and historical barriers to gene flow. In the third chapter, I examined the mountain bluebird breeding populations in Alberta and Saskatchewan for signals of current and historical hybridization. Although I did not find evidence of recent hybridization, I did detect signals of ancient introgression from both bluebird congeners. I then used both nuclear and mitochondrial DNA to examine the Sialia polytomy containing all three species of bluebirds. The polytomy showed signs of both incomplete lineage sorting between mitochondrial genes and mitonuclear discordance. As such, it appears that hybridization and other potential factors may obscure the evolutionary history of the entire genus.

摘要： I used molecular markers to examine the population genetic structure of two declining North American aerial insectivores; barn swallows and bank swallows. Both species are long-distance migrants and have a wide distribution. The findings revealed similar overall genetic clusters corresponding to western, central and eastern regions of North America. Strong population differentiation of the eastern population in both species was observed making this population a priority for conservation, especially given the large decline in the region. The results provide evidence that both species inhabited multiple refugia during the Pleistocene and interplay between migratory pathways and geographical barriers also play an important role in shaping genetic differences between populations. This study provides insights into selecting appropriate genetic techniques in future studies of migratory species and assists with developing conservation strategies.

关键词： 发育迟缓/智力障碍   核心家系全外显子组检测   遗传检测   基因变异  

摘要： 目的采用基于全外显子组测序的单核苷酸变异(SNV)/小插入缺失(InDel)和拷贝数变异(CNV)家系分析(Trios-WES)提高发育迟缓/智力障碍(DD/ID)诊断能力。方法纳入2017年3月1日—2019年3月31日期间,就诊于上海市儿童医院高危儿整合门诊及康复科门诊,经Gesell、WPPSI-Ⅳ或WISC-Ⅳ评估非外在因素引起、常规遗传检测为阴性、原因不明的58例DD/ID患儿,采用Trios-WES技术分析,对所发现基因变异进一步进行表型与Sanger测序验证,统计与分析结果。结果58例原因不明的DD/ID患儿,经Trios-WES分析,发现41个DD/ID相关的基因变异,其中13个首次报道。33个基因变异(33/58,56.9%)经验证为致病性单基因或多基因变异,包括3例CNV变异和1例父源单亲二倍体;含10个错义突变,7个剪切突变,7个移码突变,5个无义突变;新发变异占所有致病变异的79%;其中MECP2、TCF4、SYNGAP1、UBE3A、SHANK3基因变异高频出现。结论采用Trios-WES临床遗传检测策略,可提高不明原因DD/ID患儿的诊断率,为其进一步治疗及遗传咨询提供依据。

关键词： 遗传学   解题教学   解题方法   高中生物  

摘要： 文章简述了高中生物遗传学题目的基本考查内容,重点从强化基础知识学习、归纳题目基本特征、基于正逆推测分析等方面讨论了遗传学题目的解题思路及方法.

关键词： 幼年型粒单核细胞白血病   基因突变   甲基化   治疗  

摘要： 幼年型粒单核细胞白血病(JMML)是一种儿童早期特有的血液系统恶性克隆性疾病,其特征是RAS信号转导通路的组成型激活。尽管其在人群中发病率极低,但其具有高度临床异质性,临床结局差异极大。随着近年来基因测序的发展,促进了JMML更为准确的遗传学诊断以及治疗。对于大多数患儿而言,异体造血干细胞移植(HSCT)仍是目前唯一可能的治愈手段。

关键词： 偏头痛   紧张性头痛   丛集性头痛   药物过度使用性头痛   全基因组关联分析  

摘要： 原发性头痛(primary headaches,PH)大都是环境和遗传因素联合作用所致。家系和双胞胎研究发现,遗传因素在偏头痛(migraine)发病中具有重要作用。目前已证实家族性偏瘫型偏头痛(familial hemiplegic migraine,FHM)有三种突变基因,它们都参与离子通道转运。此外,关于偏头痛的病理生理学的其他分子认识也部分来自于单基因遗传综合征(包括CADASIL、RVCL和FASPS等)。全基因组关联分析(genome wide association study,GWAS)是对偏头痛易感性基因识别的有力工具,目前已确认了多个易感基因位点。紧张性头痛(tension-type headache,TTH)、丛集性头痛(cluster headaches,CH)及继发性头痛中的药物过度使用性头痛(medication-overuse headache,MOH)也有不同程度的遗传因素参与。本文回顾了头痛的遗传学研究现状,以期为进一步开展相关研究提供理论依据。

关键词： 胎儿贫血   镰状细胞病   贫血患儿   疾病特点   遗传学因素   产前诊断   地中海贫血   出生缺陷  

摘要： 胎儿贫血原因复杂,遗传是非常重要的原因之一。遗传性胎儿贫血以地中海贫血(thalassemia,简称地贫)、范科尼贫血(Fanconi anemia,FA)、溶酶体贮积病(lysosomal storage disease,LSD)、红细胞酶病、镰状细胞病(sickle cell disease,SCD)、先天性红细胞生成异常性贫血(congenital dyserythropoietic anemia,CDA)为主。随着产前影像学技术以及分子生物学技术迅速发展,特别是全外显子组测序技术在产前的应用,越来越多的遗传性胎儿贫血得到产前诊断。通过携带者筛查或产前诊断进行遗传学检测以避免严重遗传性贫血患儿的出生,使出生缺陷防控关卡得以前移。本文将对主要遗传性胎儿贫血的疾病特点、胎儿期临床表现、产前诊断方式、治疗及预后进行述评。