基因隐私权与基因知情权的冲突与衡平

基因隐私权的主旨在于公民有权对自己的基因信息予以隐瞒和维护,不被外界非法知悉。而基因知情权则是相关权利主体有权依法知悉和了解基因信息,保障其知情的权利。文章通过对两者在理论和实践中的冲突进行分析研究,指出其利益均衡点,从而实现维护整个社会公平正义的目的。     

Y-chromosome and autosomal STR diversity in four proximate settlements in Central Anatolia

Due to the longstanding human presence in the region and the influence of social traditions, the genetic make-up of populations currently inhabiting Turkey (Anatolia) is quite complex. To characterize the patterns of genetic diversity in rural Central Anatolian villages, we analyzed samples collected at four local settlements for variation at 17 Y-chromosome STR and 15 autosomal STR loci. The resulting data reveal considerable diversity within these settlements, as well as some structure in the paternal genetic variation, with a limited number of haplotypes being shared between the communities. These findings have important implications for forensic studies of Turkish populations.     

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained DeathCSCD

Objective: To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD). Methods: The blood samples were collected from SUD group (71 cases), coronary artery disease (CAD) group (62 cases) and control group (60 cases), respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exonintron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed. Results: A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1:c.45C>T (T15T) and G4V7:C.512G>A (R171H), and two were SNP loci which were CAVl:c.246C>T (rs35242077) and CAV3:C.990T (rsl008642) and had significant difference (P<0.05) in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group. Conclusion: The variants of CAV1 and CAV3 may be correlated with a part of SUD group. © 2017 by the Editorial Department of Journal of Forensic Medicine.     

应用等电聚焦电泳对人精液黄递酶Ⅲ表型分布的研究

应用超薄层聚丙烯酰胺凝胶等电聚焦电泳对武汉地区198例成人精液黄递酶Ⅲ(DIA_3)作了分型。观察到4种表现型,基因频率分别为DIA_3~1=0.7727;DIA_3~2=0.2172;DIA_3~3=0.0101。对保存精斑进行检测证实,室温下保存9周的精斑仍能作DIA_3分型。在聚丙烯酰胺凝胶中引入分离剂HEPES,提高了分辨率。改进后的等电聚焦技术尤适于DIA_3基因产物的分离。文中还调查了我国汉族人群DIA_3频率分布,并与其它群体资料作了比较。     

成都地区汉族群体C_3表型频率调查与血痕中C_3表型的检测

用醋酸纤维素薄膜电泳免疫固定法,调查了成都地区汉族群体 C_3表型频率的分布。在400例无关健康献血员中发现三种 C_3表型,SS 型397例,FS 型2例,SS_(var)型1例,其基因频率是 C_3~S=0.9963,C_3~F=0.0025,C_3~(Svar)=0.0013。表现型观察值与期望值吻合(p>0.95)。37℃和室温中放置2天的血痕,4℃中放置23天的血纱布和放置35天的玻璃上血痕,-20℃中放置至少87天血液的 C_3表型,可全部检出。人血清在室温中放3天,4℃中放13天,-20℃中至少放106天,可以全部检出 C_3表型。5例亲子鉴定案中检查了 C_3系统。     

调神益肾针法对更年期大鼠下丘脑阿片促黑素皮质素原mRNA表达的影响

目的：研究调神益肾针法对更年期雌性大鼠下丘脑阿片促黑素皮质素原mRNA表达的影响。方法：采用逆转录－聚合酶链反应技术。结果：更年期大鼠下丘脑阿片促黑素皮质素原mRNA表达明显降低；经针刺干预后，调神益肾组该基因的表达明显上调，补肾健脾组则无明显变化。结论：增强下丘脑阿片促黑素皮质素原mRNA的表达可能是调神益肾针法治疗更年期综合征的机制之一。     

通过规制实现健康保护——范围、方法和程序概览

风险规制法的目标和方法在于具体危险的防御和预防(可能的)风险。对于科技工艺和技术生产的物质或生物来说,除了惩罚禁止措施外,需要建构一套传统风险预防的前置制度,通过广泛的公众参与来对科技后果进行评估,从而采取相应的预防措施。风险规制的行政法方法包括传统的行政调控方式和信息规制方法、激励型规制手段等非禁令手段的方法。通过智慧的规制方法既可实现意欲达到的规制目标,同时也能降低行政管理成本和减少对经济活动的过度干预。     

多花黄精多糖PcUER1基因的克隆与表达分析

目的探究安徽生产的多花黄精多糖3,5-异构酶/4-还原酶基因(PcUER1)的结构基因信息及其在多花黄精中单糖鼠李糖化合物生源路径中的表达调控机制。方法以多花黄精为研究对象,基于其转录组学数据,克隆PcUER1基因并针对该cDNA序列展开生物信息学分析,采用实时荧光定量PCR方法检测多花黄精不同组织中PcUER1基因的表达水平。结果多花黄精多糖PcUER1基因的cDNA序列长度为900 bp,编码299个氨基酸;序列分析表明多花黄精与百合科虎眼万年青的相似度达到92.03%;实时荧光定量PCR检测结果显示,PcUER1基因在多花黄精的根、须根、茎、叶中表达水平逐渐降低,茎和叶中PcUER1基因表达水平的差异无统计学意义。结论多花黄精多糖PcUER1基因的活性位点有辅因子结合基序和催化四分体基序,其蛋白表达产物理化性质稳定。     

基因沉默的研究进展

基因沉默(genesilencing)是指生物体中特定基因由于种种原因不表达或者表达减少的现象。基因沉默发生在两种水平上,一种是由于DNA甲基化、异染色质化以及位置效应等引起的转录水平上的基因沉默;另一种是转录后基因沉默。RNA干扰(RNAi)是一种新发现的通过dsRNA介导的特异同源靶基因途径,RNAi的应用有望成为一种防治疾病的新方法。     

载脂蛋白E与脑损伤的研究进展

载脂蛋白E(apolipoprote in E,apo E)在脑损伤愈后过程中起着重要的作用,在损伤后不同时段,apo E含量及出现部位均呈现一定的波动性,而这些问题对探讨脑损伤的治疗及在法医学中推断脑损伤时间有十分重要的意义。本文现就这些问题的相关研究作一概述。