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关键词： 二代测序   α/β复合型地中海贫血   植入前遗传学诊断  

摘要： 目的:探讨二代测序在α/β复合型地中海贫血夫妇胚胎植入前遗传学诊断的应用价值。方法:选择α-珠蛋白基因(HBA1、HBA2)和β-珠蛋白基因(HBB)编码区为目标区域,在基因上下游2M区域内选择高密度紧密连锁的单核苷酸多态位点作为遗传连锁标记,二代测序后选择有效单核苷酸多态位点构建夫妇单体型,确定夫妇携带致病基因的风险染色体。采用二代测序技术对胚胎HBA1、HBA2和HBB直接测序和构建单体型连锁分析进行植入前遗传学诊断。结果:胚胎HBA1、HBA2和HBB直接测序和构建单体型连锁分析结果显示,活检的6个囊胚中2个为α/β复合型地中海贫血,1个为β地中海贫血杂合携带,2个为α地中海贫血杂合携带,1个为中间型α地中海贫血。选择发育良好且植入前遗传学诊断结果提示可以移植的胚胎植入母体子宫后,足月分娩一健康婴儿。结论:采用二代测序技术可对α/β复合型地中海贫血夫妇进行胚胎植入前遗传学诊断,同时可以避免选择非整倍体胚胎而导致的流产问题。

摘要： Over the last few decades wellbeing has occupied a significant space in the educational context due to enduring concerns about the mental health of children and adolescents, both while they are engaged in their schooling and beyond school and into adulthood. Because of this, many schools have adopted a prevention-to-intervention framework for addressing mental health and wellbeing. However, wellbeing is not solely concerned with mental health, and the field of wellbeing in education has continued to be influenced by many different theories and approaches. Holistic education is one particular perspective that goes beyond mental and physical health to frequently highlight the spiritual aspect of the child in relation to their overall wellbeing. In this perspective, spirituality is a dimension of the child that schools have a duty to nurture. Yet, despite its enduring position in theology, religion, philosophy and education, spirituality is an ineffable phenomenon. Whether confined to religion or viewed as an abiding aspect of humanity itself, spirituality remains a nebulous ontological field of inquiry. As schools privilege experiences in children that teachers can observe, the predominantly unseen ontological experiences occurring in the life of the child tend to be unnoticed. Disregarding what is ontologically obscured is an educational problem that this study seeks to address, given the connection between wellbeing and spirituality posited by holistic education. This study, therefore, questions the vague positioning of spirituality in the context of education, particularly as it is situated in relation to wellbeing. The philosophical and methodological frame chosen for this study is hermeneutic phenomenology. By focussing on the lived experiences of parents, teachers, principals and pre-adolescent children this study illuminates the significance of wellbeing and spirituality as ontological phenomena in education. Interviews were conducted in Victoria with participa

关键词： comparative genome hybridization   CGH   evolution   fluorescence in situ hybridization   FISH   heterochromatin   rDNA   karyotype   reptiles   sex determination   sex chromosomes   telomeres  

摘要： The lizards of the species-rich clade Scincoidea including cordylids, gerrhosaurids, skinks, and xantusiids, show an almost cosmopolitan geographical distribution and a remarkable ecological and morphological divergence. However, previous studies revealed limited variability in cytogenetic traits. The sex determination mode was revealed only in a handful of gerrhosaurid, skink, and xantusiid species, which demonstrated either ZZ/ZW or XX/XY sex chromosomes. In this study, we explored the karyotypes of six species of skinks, two species of cordylids, and one gerrhosaurid. We applied conventional and molecular cytogenetic methods, including C-banding, fluorescence in situ hybridization with probes specific for telomeric motifs and rDNA loci, and comparative genomic hybridization. The diploid chromosome numbers are rather conserved among these species, but the chromosome morphology, the presence of interstitial telomeric sequences, and the topology of rDNA loci vary significantly. Notably, XX/XY sex chromosomes were identified only in Tiliqua scincoides, where, in contrast to the X chromosome, the Y chromosome lacks accumulations of rDNA loci. We confirm that within the lizards of the scincoidean clade, sex chromosomes remained in a generally poor stage of differentiation.

摘要： The field of landscape genetics enables the study of infectious disease dynamics by connecting the landscape features with evolutionary changes. Quantifying genetic correlation across space is helpful in providing insight into the rate of spread of an infectious disease. We investigate two genetic patterns in spatially referenced single-nucleotide polymorphisms (SNPs): isolation by distance and isolation by resistance. We model the data using a Generalized Linear Mixed effect Model (GLMM) with spatially referenced random effects and provide a novel approach for estimating parameters in spatial GLMMs. In this approach, we use the links between binary probit models and bivariate normal probabilities to directly compute the model-based covariance function for spatial binary data. Parameter estimation is based on minimizing sum of squared distance between the elements of sample covariance and model-based covariance matrices. We analyze Brucella Abortus SNP data from spatially referenced hosts in the Greater Yellowstone Ecosystem (GYE).B. abortus is a bacterium which causes Brucellosis in human, wildlife, and livestock. We propose a hierarchical model to describe the transmission of Brucellosis in elk in the GYE. We model the disease spread process using a dynamical stochastic spatiotemporal susceptible-infected-susceptible (SIS) model that captures spatial heterogeneity in dynamics using a conditional autoregressive (CAR) covariance structure in parameter model. To inform spatial rates of transmission, we propose estimating elk movement and migration rates using two different migration/immigration models. Our proposed disease spread process is constrained and we propose a numerical approximation method to find the numerical solution of the constrained process by projection of the numerical solution of unconstrained *** behavior of animal changes over longer time scales. Multistate time series models based on Hidden Markov Models (HMMs) are popular that enab

关键词： 骨性错[牙合]畸形   基因   咀嚼肌  

摘要： 骨性错[牙合]畸形表现为上颌骨与下颌骨关系不调,根据其矢状向关系异常可以分为骨性Ⅰ类,骨性Ⅱ类与骨性Ⅲ类。其发病原因较为复杂,主要由遗传因素和后天环境因素共同组成,该文将通过阐述这三种骨性错[牙合]畸形的遗传学研究进展作一综述。

关键词： 冠状动脉疾病   遗传学   多基因风险评分   孟德尔随机化   转化医学  

摘要： 遗传因素对冠心病的发生发展具有重要作用。近年来,基于大规模人群的全基因组关联分析研究(GWAS)和罕见变异关联分析研究(RVAS)揭示了人类基因组中大量的与冠心病关联的遗传位点和部分致病基因。同时,这些冠心病遗传学的研究成果也在快速地向临床应用转化,为寻找冠心病的药物靶点、指导个体化治疗带来了新思路,具有广阔的发展前景。该文对冠心病遗传学领域的三大热点问题做一综述,包括冠心病多基因遗传风险的评估与个体化治疗、孟德尔随机化研究对冠心病治疗靶点的筛选验证以及冠心病新基因靶点的发现与靶向治疗药物的研发。

关键词： 精子鞭毛多发形态异常   全外显子测序   CFAP65基因突变   男性不育  

摘要： 目的:探寻精子鞭毛多发形态异常(MMAF)可能的致病基因。方法:通过对1例典型的MMAF患者进行全外显子组测序(WES),分析可能的致病基因;运用扫描电镜和透射电镜观察MMAF患者精液样本,明确其鞭毛超微结构特点;通过精子免疫荧光技术分析cilia and flagella-associated protein 65(CFAP65)在精子发生过程中的表达模式。结果:该例患者存在CFAP65基因的一个纯合致病性突变c.2675G>A(***892*);扫描电镜发现该患者精子具有典型的MMAF特征,即表现为无尾,折尾,卷尾,短尾或不规则尾巴;透射电镜发现患者精子鞭毛"9+2"结构缺失和紊乱:精子鞭毛纤维鞘组装异常,伴有中心微管缺失和动力蛋白臂缺失。细胞免疫荧光提示该CFAP65基因在小鼠各级生殖细胞均有表达。结论:CFAP65基因参与了精子鞭毛结构的组装,其突变可引起MMAF表型而导致男性不育。

关键词： 河南省人民医院   毛细血管网   面部红斑   继发性癫痫   畸形血管   葡萄酒色斑   基因突变   软脑膜  

摘要： 目的探讨葡萄酒色斑(port-wine stains,PWS)及Sturge-Weber综合征(Sturge-Weber syndrome,SWS)的分子遗传学及临床病理学特征。方法对2017年1月至2020年6月河南省人民医院病理科确诊的13例PWS和3例SWS的基因突变情况、形态学进行分析,并随访患者。结果本组女性7例,男性9例,临床表现为出生即存在的皮肤红斑,镜下见不规则扩张畸形血管,累及真皮及皮下组织。3例SWS均为男性,年龄范围1~16岁,面部均见三叉神经分布区红斑,临床表现为继发性癫痫。切除脑组织表面可见迂曲怒张的小血管及毛细血管网;镜下脑组织表面软脑膜增厚,可见大量薄壁毛细血管,呈海绵状、蜂窝状或串珠状排列,无血管内皮细胞增生。14例进行高通量测序检测,结果10例PWS(76.9%)和1例SWS均存在GNAQ基因错义突变(R183Q)。结论PWS如出现累及三叉神经分布区的面部红斑应高度警惕SWS可能,后者最常累及软脑膜,呈较广泛毛细血管畸形;同时PWS及SWS中存在GNAQ基因突变,可作为与其他脉管畸形鉴别诊断的重要参考指标之一。

关键词： 遗传学   慢性鼻窦炎   遗传学   基因  

摘要： 慢性鼻窦炎(CRS)是一种复杂的多因素疾病,虽然目前该病的发病机制尚未了解清楚,但是现在多种研究证实遗传学参与了CRS发病机制中的重要一环,并且以此来指导相关临床治疗。本综述的目的是讨论最近研究中的热门基因如囊性纤维化跨膜传导调节器基因(CFTR)、原发性纤毛运动障碍(PCD)相关基因、先天性免疫基因与CRS发病机制的关联。