乙型肝炎病毒前C区1896 G→A突变对母婴垂直传播的影响

目的:探讨乙型肝炎病毒(HBV)前C区1896 G→A点突变对母婴垂直传播的影响。方法:收集60例本院妇产科HBeAg阴性/HBV DNA阳性的孕妇血标本,同时收集这些孕妇的60例新生儿脐带血。应用PCR固相杂交法检测孕妇血清中HBV DNA前C区1896 G→A突变,荧光定量PCR(FQ-PCR)检测HBV孕妇血清和新生儿脐带血中HBV DNA载量。分析HBV前C区1896 G→A点突变及孕妇血清HBV DNA载量对母婴垂直传播率的影响。结果:60例孕妇血标本共检测到38例HBV前C区1896 G→A点突变(63.3%);突变组母婴垂直传播发生率为44.7%(17/38),未突变组母婴垂直传播发生率为40.9%(9/22),二组比较无统计学差异(χ2=0.0831,P>0.05)。孕妇血中HBV DNA高载量组(≥1×105 copies/ml)母婴垂直传播发生率为72.0%(18/25),低载量组(<1×105 copies/ml)母婴垂直传播发生率为22.9%(8/35),二组相比有显著性差异(χ2=14.3426,P<0.01)。结论:HBV前C区1896 G→A点突变未对母婴HBV垂直传播率造成影响,孕妇血清中HBV DNA载量升高增加了母婴HBV垂直传播的危险性。     

高效液相色谱-电喷雾串联质谱测定DNA氧化损伤标志物8-羟基-2'-脱氧鸟苷

8-羟基-2'-脱氧鸟苷(8-hydroxy-2'-deoxyguanosine,8-OHdG)是活性氧自由基(ROS)引起DNA氧化损伤修饰产物之一.8-OHdG可被机体特异性DNA修复酶剪切清除并经肾脏随尿排泄,其含量反映机体氧化损伤程度[1-4].因此测定机体8-OHdG含量可评估体内氧化损伤和修复程度,对研究衰老机制、癌发生机制、环境毒物等均有重要的意义.     

高效液相色谱-电喷雾串联质谱测定DNA氧化损伤标志物8-羟基-2'-脱氧鸟苷

8-羟基-2'-脱氧鸟苷(8-hydroxy-2'-deoxyguanosine,8-OHdG)是活性氧自由基(ROS)引起DNA氧化损伤修饰产物之一.8-OHdG可被机体特异性DNA修复酶剪切清除并经肾脏随尿排泄,其含量反映机体氧化损伤程度[1-4].因此测定机体8-OHdG含量可评估体内氧化损伤和修复程度,对研究衰老机制、癌发生机制、环境毒物等均有重要的意义.     

高效液相色谱-电喷雾串联质谱测定DNA氧化损伤标志物8-羟基-2'-脱氧鸟苷

8-羟基-2'-脱氧鸟苷(8-hydroxy-2'-deoxyguanosine,8-OHdG)是活性氧自由基(ROS)引起DNA氧化损伤修饰产物之一.8-OHdG可被机体特异性DNA修复酶剪切清除并经肾脏随尿排泄,其含量反映机体氧化损伤程度[1-4].因此测定机体8-OHdG含量可评估体内氧化损伤和修复程度,对研究衰老机制、癌发生机制、环境毒物等均有重要的意义.     

线粒体脑肌病伴高乳酸血症和卒中样发作综合征有基底节钙化者的线粒体DNA突变情况观察

目的通过对脑CT示基底节钙化的线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MELAS)患者的线粒体DNA(mitochondrial DNA,mtDNA)突变进行研究,验证大部分MELAS综合征患者mtDNA突变位点在3243,探讨基底节钙化是否可作为线粒体病的筛选诊断指标。方法应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法对20例MELAS综合征患者肌肉或外周血mtDNA的A3243G点突变进行检测,并将PCR产物进行DNA序列分析。结果经APaⅠ酶切13例检测到A3243G点突变。侧序共14例检测到A3243G点突变。20例均无T3271C点突变。结论大部分MELAS综合征患者mtDNA突变位点在3243;基底节钙化与mtDNA异常关系密切,年轻患者的基底节钙化可作为线粒体病的筛选诊断指标。     

胰腺癌细胞线粒体DNA突变的检测和分析

目的 研究胰腺癌细胞线粒体DNA调控序列（D-loop）区突变情况.方法 用PCR与直接测序相结合的方法,对比分析二株胰腺癌细胞株SW1990,JF-305和1例原代培养的正常胰腺细胞的线粒体DNA D-loop区的突变位点.结果 二株胰腺癌细胞系和正常胰腺细胞的线粒体DNA D-loop区均存在不同程度的点突变,SW1990共检测到8个突变位点,JF-305共检测9个突变位点,其中73位A-G,16223位C-T,16358位C-T这三个突变位点在二株癌细胞和正常胰腺细胞中均检测到,考虑为多态性变化,其中16211位C-T,16311位T-C两个相同的突变位点在二株胰腺癌细胞中均检测到,考虑为特征性突变.结论 胰腺癌细胞线粒体DNA D-loop区具有多态性和突变性,其特征性突变有望成为新的分子标记.     

8-羟基脱氧鸟苷与职业接触抗肿瘤药物者健康效应的研究进展

8-羟基脱氧鸟苷是氧化应激引起DNA损伤的主要产物，在一定程度上反映DNA氧化损伤程度。8-羟基脱氧鸟苷的产生、代谢机制与机体疾病、肿瘤的发生密不可分，抗肿瘤药物是一种能引起DNA氧化损伤的有毒化学物质，长期职业接触抗肿瘤药物者存在潜在健康损害。本文通过对8-羟基脱氧鸟苷产生代谢机制、与抗肿瘤药物的内在联系、与机体肿瘤的关系以及职业接触者机体健康效应等进行综述，以期达到早期监测抗肿瘤药物职业接触者健康状况的目的，提供早期预警，巩固肿瘤专科人才的发展。     

8-羟基脱氧鸟苷检测方法研究进展

8-羟基脱氧鸟苷(8-Hydroxy-2′-deoxyguan ine,8-OHdG)是活性氧自由基(ROS)引起DNA氧化损伤修饰产物之一,其生成原因很多,主要是电离辐射、化学致癌物代谢活化及细胞正常新陈代谢过程产生大量ROS直接攻击DNA中的鸟嘌呤(dG),使脱氧鸟苷氧化为8-OHdG。8-OHdG可被机体特异性DNA修复酶剪切清除并经肾脏随尿排泄,其含量反映机体氧化损伤程度,既是个体接触标志物,又是效应标志物[1]。它一旦逃避了机体自身修复,就可能成为致突变、致畸、致癌的启动因子[2]。8-OHdG在体内稳定存在,为代谢终产物,且只能通过DNA氧化损伤途径形成,并可通…     

母系遗传氨基糖苷类抗生素致聋家系的线粒体DNA突变分析

目的确定母系遗传氨基糖苷类抗生素致聋家系的线粒体DNA突变位点，并研究其临床表型．方法应用PCR和DNA序列分析技术，对一个有明确氨基糖苷类抗生素应用史的母系遗传耳聋家系共18人(包括聋人和听力正常者)的线粒体DNA进行研究。结果该家系中有9份样品存在线粒体DNA 12SrRNA1555位点A—G的突变，其余样品为1555G点突变阴性。结论提示线粒体DNA点突变是导致该家系致聋的主要因素之一。     

用DNA芯片检测结核分枝杆菌耐利福平基因突变的初步研究

目的研制一种新型DNA芯片，用于快速检测结核分枝杆菌耐利福平rpoB基因突变。方法根据结核分枝杆菌rpoB基因序列设计探针并制作DNA芯片，PCR掺入法荧光标记根据结核分枝杆菌rpoB基因突变热点的目的片断，与DNA芯片杂交，同时以DNA测序法为对照。结果18株结核分枝杆菌临床分离株中，1株敏感株DNA芯片杂交结果与标准株完全相同；17株耐RFP临床分离株中有17株检测到rpoB基因突变，其中14株单位点突变，1株511和516位双位点突变，与测序结果完全一致。另有两株为517和518、526和517位双位点突变，因为芯片上未点517位突变的探针，所以只检测到518和526位的突变，该突变与测序结果完全一致、结论用DNA芯片可快速、特异地检测出大多数结核分枝杆菌耐利福平分离株的rpoB基因突变，可用于临床耐药性的检测，指导临床用药。     

Trauma 1 as a political tool

Interviews with refugees from Kosovo serve to elucidate the political significance of the concepts dealing with traumatic experiences. Both the Western world and its interventions executed during the Balkan War refer to the concept of trauma as a central topic. Any peace-restoring actions, therapeutic interventions and even military campaigns are legitimized by the core concept of trauma. Therefore granting asylum hinges essentially on this concept. Refugees must successfully convince the authorities of being painfully affected by their traumatic experiences, which serve as an asset towards a safer and just future. Clinging to the trauma and the unconscious attachment to the victim role hence create and affirm the national identity. Consequently, by resorting to trauma, the West is in danger of aggravating the tenuous issues of national identity and idiosyncrasy.     

Soil as a source of Legionella pneumophila serogroup 1 (Lp1)

OBJECTIVE: To investigate the potential source of a case of Legionnaires' disease caused by an unusual serotype of Legionella pneumophila serogroup 1 (Lp1) in regional Victoria in May 2001. METHOD: Epidemiological and environmental investigation of the source of infection of a case of Legionnaires' disease in regional Victoria in May 2001. RESULTS: Extensive environmental investigations did not reveal any cooling water tower systems close to the residence or the shopping centre that the case visited prior to illness. The sputum culture and a soil sample from the field at the plant nursery where the case worked prior to illness were both positive for Legionella pneumophilia serogroup 1, MDU pulsovar 97:103. CONCLUSION: Legionella pneumophila has been found in soil and was further found to be associated with a case of Legionella pneumophila. IMPLICATIONS: Public health authorities should consider exposures to soil and potting mixes when investigating cases of Legionella pneumophila where the case has no apparent association with cooling towers. Safe gardening practices should be promoted among the community.     

Synthesis of 1-naphtylpiperazine derivatives as serotoninergic ligands and their evaluation as antiproliferative agents

Serotonin (5-hydroxytryptamine, 5-HT) is one of the most important neuromediator involved in numerous physiological and pathophysiological processes. In addition it is well established that 5-HT acts as a growth factor on several types of non-tumoral and tumoral cells, and recently it was also related to oncogenes. 5-HT1A receptor expression was identified in prostatic tumor cell lines (PC3 cells) and in human hormone refractory prostate cancer tissue. Based on these observations, development of 5-HT1A antagonists could be useful in inhibiting the growth of cancer cells. In order to investigate on potential use of 5-HT1A ligands as antiproliferative agents, we have analyzed a new set of 1-naphtylpiperazine derivatives. In binding studies, several molecules showed affinity in nanomolar and subnanomolar range at 5-HT1A and moderate to no affinity for other relevant receptors (5-HT2A, 5-HT2C, D1, D2, α1 and α2). All compounds were then evaluated in order to assess their antiproliferative activity using PC3 cells and the most active compounds (1 and 2) were fully characterized to define the mechanism responsible for the observed antiproliferative effect.     

Urinary 1-naphthol and 1-pyrenol as indicators of exposure to coal tar products

Chemical exposure of assemblers handling creosote-impregnated wood and of a single worker chiselling coal tar pitch layer was assessed by measuring airborne naphthalene and various polycyclic aromatic hydrocarbons (PAHs), and by measurement of urinary excretion of 1-naphthol and 1-pyrenol. The sum concentration of PAHs and of 4–6 aromatic ring-containing PAHs were high, 440 g/m³ and 290 g/m³, respectively, when chiselling. In the assembler's workplace, the PAH concentrations were about 1/50 of this value. Regarding airborne naphthalene concentrations the situation was reversed (assemblers, 1000 g/m³; chiseller, 160 g/m³). Correspondingly, the assemblers' urinary 1-napthol concentrations were 15–20 times higher than those of the chiseller. The urinary 1-pyrenol concentration of the chiseller was 2–4 times higher than among the assemblers. As the estimated pyrene inhalation doses among the assemblers could account for only about 2%–25% of the 24-h pyrenol excretion in urine, the skin was presumably the main route of uptake. For an assessment of the exposure to PAHs, air measurements, monitoring of metabolites in urine and preferably also data on the composition of the skin-contaminating product are needed.