长链非编码RNA在阿尔茨海默病中的研究进展

阿尔茨海默病(AD)属于慢性神经退行性疾病,是引起老年痴呆的主要病因.AD发病机制复杂,临床预后极差.长链非编码RNAs(lncRNAs)是一类不能编码蛋白,通过转录及转录后水平调节基因的表达,参与了癌症、神经系统、心血管系统以及衰老等病理生理过程.lncRNAs与AD的发生发展相关在1992年首次提出之后,不同lncRNAs在AD中的作用受到广泛关注.现对近年来lncRNAs与AD的相关研究进行概述,以期为AD的防治提供新思路.     

Genetics terminology for respiratory physicians

Genes affect our susceptibility to almost all diseases, from the rare single gene disorders such as cystic fibrosis to common multifactorial disorders such as asthma. They also influence our response to specific therapies. Scientific advances in genetics, starting with projects such as the mapping of the human genome [International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931–945] are likely to improve healthcare in the coming decades. Internationally, government initiatives have been established to address strategies to implement these changes [NHS Genetics White Paper. “Our Inheritance – Our Future”: Realising the potential of Genetics in the NHS. UK: Department of Health 2003; Family Health History Initiative. National Human Genome Research Institute and Office of Surgeon General, Department of Health and Human Services. 2004]. A knowledge of basic genetic principles and familiarity with genetic ‘jargon’ associated with new technologies will be important for those practicing in this era of ‘genomic medicine’ [Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003; 422; April 24; 835-847]. The aim of this article is to review genetic terminology using examples from paediatric respiratory medicine.     

Retention of gene products in syncytial spermatids promotes non-Mendelian inheritance as revealed by the t complex responder

The t complex responder (Tcr) encoded by the mouse t haplotype is able to cause phenotypic differences between t and + sperm derived from t/+ males, leading to non-Mendelian inheritance. This capability of Tcr contradicts the concept of phenotypic equivalence proposed for sperm cells, which develop in a syncytium and actively share gene products. By analyzing a Tcr minigene in hemizygous transgenic mice, we show that Tcr gene products are post-meiotically expressed and are retained in the haploid sperm cells. The wild-type allele of Tcr, sperm motility kinase-1 (Smok1), behaves in the same manner, suggesting that Tcr/Smok reveal a common mechanism prone to evolve non-Mendelian inheritance in mammals.     

脊髓小脑性共济失调17型一家系分析及文献复习

目的探讨脊髓小脑性共济失调17型(SCA17)的临床特征。方法收集2例经基因检测明确为SCA17患者的临床及其家系调查资料,结合文献复习进行分析。结果 2例患者均诊断为SCA17。临床表现为小脑症状、认知功能损害、帕金森样症状、肌张力障碍、舞蹈症和癫。头颅MRI检查示大脑和小脑显著萎缩。结论 SCA17临床特征具有高度异质性,基因检测有助诊断,临床医生需对SCA17有足够的认识。     

家族性面神经麻痹的临床及电生理特点

目的:探讨家族性面神经麻痹的临床以及电生理特点。方法:收集周围性面神经麻痹1家系所有患者的临床资料,对先证者及其哥行详细的电生理检查。结果:该家系3代20名成员中共有面神经麻痹患者5例,其中男3例,女2例;右侧面瘫2例,左侧面瘫2例,双侧1例;发病年龄8～31岁;4例多次反复发作;电生理结果示右侧面神经神经性受损;瞬目反射示传出型障碍。结论:面神经麻痹可表现为家族性,临床特点与散发患者类似,电生理无特征性表现。     

黄芪炮制历史沿革研究

目的:弄清黄芪历代炮制演变轨迹、现代全国各地炮制规范概况,为研究者提供现代研究思路。方法:通过大量地查阅、整理、分析古代及现代医药文献,全面综述古今黄芪炮制方法、探讨炮制机理。结果:自汉代开始,经历南北朝、唐、宋、元、明、清等时期,记载的炮制方法共有30多种,传统炮制理论成熟。结论:黄芪古代炮制方法种类丰富、炮制理念成熟,目前流传下来应用普遍、研究最多的主要为蜜炙黄芪及黄芪片,其他方法及其炮制品已不是研究及使用主流。但历代沿用的酒制、米制、盐制等炮制品确有无可替代的作用,因而也应被进一步继承创新。     

单相抑郁症患者自杀行为遗传效应及遗传方式的研究

目的探讨单相抑郁症患者自杀行为的遗传效应及方式。方法 采用严格的纳入标准,对115例抑郁症患者应用家族史法进行研究,用医学遗传数学方法中分离分析和多基因阈值理论进行遗传方式的探讨,并与对照组(395名)比较。结果 单相抑郁症患者自杀危险性较其一级亲属高(P<0.01),单相抑郁症患者一级亲属自杀危险性较对照组高(P<0.01),有自杀行为患者的一级亲属较无自杀行为患者的一级亲属自杀危险性高(P<0.05)。单相抑郁症自杀行为的加权平均遗传率及标准误为(70.16±0.79)％;一级亲属自杀行为预期发病率为3.1％,实际发病率为2.6％,两者差异无显著性意义(P>0.05)。结论 单相抑郁症自杀行为有明显的遗传效应,其遗传方式符合多基因遗传。     

常染色体显性遗传性痉挛性截瘫的分子遗传学进展

遗传性痉挛性截瘫(SPG)是一组以双下肢进行性肌张力增高和无力、剪刀步态为特征的具有明显临床和遗传异质性的神经系统变性疾病,多数呈常染色体显性遗传,也可呈常染色体隐性或X连锁遗传。根据临床表现不同,即是否伴有脊髓外损害将SPG分为复杂型和单纯型。复杂型和单纯型都可呈常染色体显性遗传,到目前为止已定位15型,其中有9型的疾病基因已被克隆。本文主要对各型常染色体显性遗传SPG的分子遗传学进展加以综述。     

Acromesomelic Dysplasia in a Father and Son: Autosomal Dominant Inheritance

A father and son with typical acromesomelic dysplasia are reported, with the father more severely affected than the son. The disease was thus apparently transmitted in an autosomal dominant fashion. This is at variance with the autosomal recessive mode of inheritance assumed from hitherto reported families.