神经分化因子1 (Ala45Thr)基因多态性与2型糖尿病易感性关系的meta分析

目的 通过meta分析评估神经分化因子1(Neuro1D1)Ala45Thr基因多态性与2型糖尿病的关联性.方法 通过系统检索PubMed、EMBASE、CNKI、万方数据库、维普数据库等中英文数据库,在Kavvoura等已发表1999年至2004年NeuroD1 (Ala45Thr)基因多态性与2型糖尿病关联性的meta分析基础上,纳入2004年至2012年有关NeuroD1 (Ala45Thr)基因多态性与2型糖尿病相关性的研究,以2型糖尿病组和正常对照组基因分布的OR值为统计量,应用Rev Man 5.0软件对研究结果进行异质性检验和相关数据的合并,最终纳入13篇病例对照试验文献.结果 共入选2型糖尿病患者3 896例,对照组3 186名.Meta分析结果显示,黄种人2型糖尿病与对照组Thr45Thr45/(Ala45Thr+Ala45Ala45) OR值为3.16(95％CI0.99 ～10.11),白种人OR值为1.09(95％ CI0.90～ 1.32),差异均无统计学意义(P＞0.05) 而2型糖尿病组和对照组G/A等位基因频率OR值为0.85(95％ CI0.72 ～0.99)/1.18(95％ CI.07 ～ 1.38),差异有统计学意义(Z=2.02,P=0.04).结论 NeuroD1 (Ala45Thr)位点A等位基因可能是2型糖尿病的危险因素.     

神经分化因子-1基因与糖尿病

神经分化因子-1(NeuroD1/Beta2)基因在胰腺组织发育过程的网络调节中起着重要的作用,近年发现NeuroD1/Beta2基因突变与青幼年发病型成人糖尿病(MODY)有关。NeuroD1/Beta2是MODY6的致病基因,另据研究发现NeuroD1/Beta2基因Ala45Thr多态可能和1型糖尿病的发生相关联。本文对NeuroD1/Beta2基因突变在各种族MODY人群中筛查的研究现状及各研究组对NeuroD1/Beta2基因Ala45Thr多态和1型糖尿病发生关系的研究结果作一综述。     

神经分化因子-1基因与糖尿病

神经分化因子-1(NeuroD1／Beta2)基因在胰腺组织发育过程的网络调节中起着重要的作用，近年发现NeuroD1／Baa2基因突变与青幼年发病型成人糖尿病(MODY)有关。NeuroD1／Bern2是MODY6的致病基因，另据研究发现NeuroD1／Baa2基因Ala45Thr多态可能和1型糖尿病的发生相关联。本文对NeuroD1／Beta2基因突变在各种族MODY人群中筛查的研究现状及各研究组对NeuroD1／Beta2基因Ala45Thr多态和1型糖尿病发生关系的研究结果作一综述。     

MODY3基因在早发家族性2型糖尿病发病中的作用

目的评估MODY3（HNF-1a）基因在中国家族性早发2型糖尿病（T2DM）发病中的作用。方法收集100个早发T2DM家系,PCR扩增先证者MODY3基因的外显子和外显子/内含子拼接区,产物直接测序。对发现的SNPs进行病例对照研究。结果发现5个非编码区DNA变异IVS1-16G〉A、IVS2-23C〉T、IVS5＋9C〉G、IVS7＋7A〉G、IVS9-24C〉T,4个编码区的同义突变Leu17Leu、Gly288Gly、Thr515Thr、Leu459Leu,3个编码区的错义突变Pro379Ala、Ile27Leu、Ser487Asp,其中Pro379Ala突变在一个家系中与糖尿病共分离;Ile27Leu和Ser487Asp与糖尿病不相关。结论MODY3在中国早发家族性T2DM中患病率不超过1%,在中国家族性T2DM发病中不起主要作用。     

哮喘患儿Toll样受体4基因多态性及其与哮喘发病的关系

目的 探讨支气管哮喘患儿外周血Toll样受体4(TLR4)基因多态性及其与哮喘发病的关系。方法 172例哮喘患儿（观察组），根据哮喘急性发作严重程度分为轻度34例、中度35例、重度45例和危重58例，另选择136例健康体检儿童为对照组。抽取观察组病情发作期、对照组体检时外周静脉血，采用聚合酶链式反应-限制性内切酶片段长度多态性法检测TLR4基因，采用二元Logistic回归分析不同TLR4基因位点基因型儿童哮喘发病的危险性。结果 观察组患儿TLR4基因Thr399Ile位点CC、CT、TT基因型分别为31、73、68例，等位基因C、T分别为135、209例，对照组分别为42、60、34、144及128例；与对照组比较，观察组TLR4基因Thr399Ile位点T等位基因分布频率高（P<0.05）。与CC基因型比较，TLR4基因Thr399Ile位点TT型人群哮喘发病的危险性高[OR=2.353(95%CI1.575～4.663);P<0.05]。结论 哮喘患儿TLR4基因Thr399Ile位点的基因型以TT为主，等位基因T分布频率高。TLR4基因Thr399Ile位点多态性可...     

苏南地区乙型肝炎病毒S基因序列的多态性研究

目的:探讨乙型肝炎病毒(HBV)S基因序列的多态性,为研究HBV-S基因变异提供参照指导。方法:采用聚合酶链反应技术对81例乙型肝炎表面抗原阳性的HBV感染者的S基因进行扩增,再对扩增产物进行DNA测序,将结果与标准序列进行比较分析。结果:81价标本中,测得adr型38例,adw型43例,未发现有ayr及ayw型。38例adr型中氨基酸第121～125位点(AA121～125)、AA127～130、AA132、AA135～160高度保守,而AA126为异亮氨酸(Ile),也可为苏氨酸(Thr)或丝氨酸(Ser);AA131多为Thr,少数为天冬酰胺(Asn),1例为脯氨酸(Pro),AA133多为蛋氨酸,少数为Thr;AA134为苯丙氨酸,仅1例为精氨酸。43例adw型中,AA131均为Thr,而非Asn;AA126为Thr,也可为丙氨酸(Ala),少数为Ser;AA127多为Pro,少数为Thr;AA123为Thr,少数为Ala或Ile;AA141多为赖氨酸,少数为谷氨酸;AA133、AA140分别为Thr、Ile各1例。其他位点则高度保守。结论:HBV亚型分布具有地域性,苏南地区多以adw和adr型为主。HBV-S基因(“a”决定簇)序列存在多态性,其中adw亚型略为明显。     

1型糖尿病病人神经源分化因子NeuroD/BETA2基因多态性研究

1型糖尿病是遗传易感个体通过自身免疫反应引起胰岛β细胞破坏的疾病。胰岛β细胞的结构和功能的异常是1型糖尿病发生的重要因素之一。神经源分化因子NeuroD／BE-TA2是胰岛形成和胰岛素基因转录的重要调节物，其基因位于人类染色体2q32，邻近于1型糖尿病易感位点区域(IDDM7)，成为1型糖尿病新的候选基因之一。NeuroD／BETA2基因多态性与1型糖尿病的关系，国外学者报道不一。本研究以中国湖北地区汉族人群为对象，研究NeuroD／BE-TA2基因第45位密码子变异(Ala45Thr)与1型糖尿病遗传易感性的关系。     

NeuroD1基因A45T多态性与自身抗体阴性的酮症倾向糖尿病的关系

目的探讨NeuroD1基因A45T多态性与胰岛自身抗体阴性的酮症倾向糖尿病（KPD）的关系。方法应用PCR-测序法对296例GAI-Ab和IA-2Ab阴性酮症倾向糖尿病患者（KPD组）和399例非糖尿病对照者（NC组）检测了NeuroD1基因外显子2的A45T基因型,对等位基因和基因型频率进行分析。结果自身抗体阴性的KPD患者NeuroD1基因A45T的AA基因型频率和A等位基因频率与NC组比较差异均无显著性。对患者进行年龄和性别分层后仍未发现NeuroD1基因A45T基因型和等位基因频率与对照组有差别。结论在本组汉族人中,NeuroD1基因的Ala45Thr多态性与自身抗体阴性KPD无相关性。     

神经源分化因子基因多态性与中国湖北地区老年2型糖尿病的关系

神经源分化因子(NeuroD)被认为是糖尿病的候选基因之一.尽管国外有一些关于NeuroD/BETA2基因与糖尿病关系的报道,但各研究结果不尽相同.自2001年以来,我们以中国湖北地区汉族人群为研究对象,检测NeuroD/BETA2基因Ala45Thr多态性与老年2型糖尿病的关系.     

维吾尔族及汉族帕金森病患者ATP13A2基因Ala1144Thr突变比较

目的探讨ATP13A2基因Ala1144Thr位点突变在新疆维吾尔族(简称维族)、汉族散发性帕金森病(SPD)患者中是否存在差异性。方法 SPD患者(病例组)420例和健康成人(正常对照组)400例,采用聚合酶链反应(PCR)结合DNA直接测序法进行ATP13A2基因亚型Ala1144Thr突变分析;比较2个民族SPD患者Ala1144Thr位点基因多态性。结果新疆维汉SPD患者Ala1144Thr突变率为1/420(0.24%);ATP13A2基因Ala1144Thr多态性在PD组和正常对照组,男性PD组与女性PD组,维族PD组与汉族PD组,维族早发性PD(EOPD)组与汉族EOPD组,男性EOPD组与女性EOPD亚组,EOPD亚组与迟发性PD(LOPD)亚组,男性LOPD亚组与女性LOPD亚组,维族LOPD亚组与汉族LOPD亚组其基因型及等位基因型频率比较差异均无统计学意义(P0.05)。结论新疆族、汉族ATP13A2基因Ala1144Thr位点突变率极低,新疆族、汉族ATP13A2基因Ala1144Thr位点等位基因型与等位基因型频率与民族、发病年龄及性别均无明显相关性。     

青少年高血压的研究进展

随着人们生活和行为方式的改变,高血压发病明显呈年轻化趋势。在青少年时期识别高血压病高危人群有助于早期进行有效干预和治疗,降低未来高血压的发生率及其严重性。现试从青少年高血压的诊断、发病因素、特点、治疗策略等方面的研究进展作一综述。     

Morbidity in cardiovascular diseases in immigrants in Sweden

INTRODUCTION: Although immigration to Sweden has increased in the last few decades, the incidence rates of cardiovascular disease and coronary heart disease in immigrants are unknown. The aim of the present study is to estimate whether place of birth affects the incidence rates of cardiovascular disease and coronary heart disease. MATERIAL AND METHODS: The study was designed as a follow-up study on morbidity in cardiovascular disease and coronary heart disease between 1 January 1997 and 31 December 1998, including three and a half million persons with age range 35-64 years, of whom 550 000 were born abroad, from the database MigMed consisting of the whole Swedish population. Incidence rates and relative risks were estimated by indirect standardization and a proportional hazard model. RESULTS: The age-adjusted risk of coronary heart disease was higher in most foreign-born groups than in Swedes. For example, in nine of 12 male groups, the relative risks varied between 1.1 and 2.2, and in seven of 12 female groups, the relative risks varied between 1.4 and 2.5. When also adjusting for level of education and employment status, the risks were still high, but on a lower level. CONCLUSIONS: Foreign-born people possess an over-risk of cardiovascular or coronary heart disease(CVD/CHD) compared with Swedish-born persons, also when level of education and employment status are taken into account.     

C·肉毒杀鼠素(冻干剂)应用研究

目的为研究C·肉毒杀鼠索对杀灭达乌尔黄鼠(简称黄鼠)的大面积应用情况和对家畜、家禽的毒害作用,进行了C·肉毒杀鼠素的应用研究.方法大面积投毒采用ES-2药饵撒播机[1],间隔约80m进行条投.羊、鸡采用直接灌胃.结果大面积应用的灭鼠率为83.72%.对羊、鸡最高剂量分别为500万MLD、150万MLD,均未出现中毒现象.结论 C·肉毒杀鼠素是较为理想的草原大面积杀灭黄鼠的理想、首选药物.     

高龄老年高血压的临床研究进展

随着社会老龄化进程的加快,80岁以上高龄老人的绝对数量以及占总人口的比例均在增加,如何提高高龄老年高血压的防治水平备受关注。现试从高龄老年高血压的临床特点、治疗策略等方面的临床研究进展作一综述。     

中国老年性耳聋的研究与干预进展

老年性耳聋已成为影响我国老年人生活质量的最主要的慢性病之一。助听器是目前帮助听力损失的老年人克服交流障碍的主要手段。在我国,数字助听器已逐渐取代模拟助听器并且体现出了更好的效果。但是老年听力损失患者中使用助听器的比例仍然很小。人工耳蜗植入也已被应用在老年患者中。我国针对老年人的听力康复服务还有较长的路要走。     

Sex Differences in Ethanol-induced Dopamine Release in Nucleus Accumbens and in Ethanol Consumption in Rats

In vivo microdialysis was used to examine changes in nucleus accumbens and striatal dopamine, dihydrophenylacetic acid (DO-PAC), and homovanillic acid (HVA) following acute administration of ethanol (0.0, 0.25, 0.5, 1.0, or 2.0 g/kg) in male and female Long-Evans rats. Following dialysis, rats were trained to bar-press for oral ethanol reinforcement. In nucleus accumbens, females showed significant increases in extracellular dopamine following 0.25 or 0.5 g/ kg ethanol, but did not show significant increases over baseline at the higher doses. Males showed slight increases in dopamine at the lower doses and decreased dopamine at 2.0 g/kg. In striatum, both sexes showed increased dopamine at the lower doses and decreased dopamine at 2.0 g/kg. There were slight increases in nucleus accumbens DOPAC and HVA at some doses in both sexes, but no changes in striatal metabolite levels. In addition to showing increased responsiveness to ethanol-induced mesolimbic dopamine stimulation, females consumed more ethanol than males during behavioral testing. The pattern of both greater ethanol-induced nucleus accumbens dopamine release and greater ethanol consumption in females supports the hypothesis that ethanol reward is mediated, at least in part, by the mesolimbic dopamine system.     

Epstein-Barr virus in malignancies in renal transplant recipients in Japan

A role for Epstein-Barr virus (EBV) in the development of malignancies including lymphomas, and carcinoma of the stomach, nasopharynx, thymus and salivary gland is suggested. It is indicated that EBV evokes polyclonal-B-cell-proliferative diseases in immunocompromised hosts, such as transplant patients, which results in monoclonal malignant lymphomas. The suppression of immune functions in these patients is thought to lead to incomplete elimination of the cells expressing EBV latent infection genes. To examine the etiological role of EBV in the development of malignancies following renal transplant in Japan, 42 malignancies in 1744 cases of renal transplant were studied for the presence and type of EBV. The polymerase chain reaction revealed that 5 malignancies were positive for EBV, all type A: 2 of 2 cases of non-Hodgkin's lymphoma (NHL), 2 of 8 cases of gastric adenocarcinoma of the common type, and 1 of 2 cases of gastric plasmacytoma. In situ hybridization revealed positive signals in the nucleus of tumor cells in 2 cases of NHL and 1 of plasmacytoma. Positive signals were found in the small lymphoid cells but not in the tumor cells in 2 cases of gastric carcinoma. On the basis of these findings, a role for EBV in the development of malignancies in renal transplant patients is unlikely except for lymphoid neoplasias.Abbreviations PCB polymerase chain reaction - EBV Epstein-Barr virus - NHL non-Hodgkin's lymphoma     

糖尿病大鼠心室肌细胞钾通道的改变

目的研究糖尿病大鼠心室肌细胞钾通道的改变及增加葡萄糖代谢对其的作用。方法取体重150～200g的雄性SpragueDawley大鼠,腹腔注射链脲菌素(STZ)建立糖尿病模型,采用酶解法获得单个心室肌细胞,应用膜片钳全细胞记录技术记录钾电流。结果糖尿病大鼠心室肌细胞瞬间外向性钾流(Ito)密度较对照组显著降低[ 60mV时,分别为(15.90±1.19)pA/pF(n=25)和(28.55±0.97)pA/pF(n=12),P<0.001];分别用100nmol/L胰岛素及1.5mmol/L二氯乙酸在体外预处理心室肌细胞4～5h和3～4h使Ito密度恢复至对照组水平[ 60mV时,分别为(29.40±0.38)pA/pF(n=20)和(27.35±0.97)pA/pF(n=12)]。结论糖尿病大鼠心室肌细胞钾通道功能发生改变,增加葡萄糖代谢可逆转这一改变,提示葡萄糖代谢与Ito功能间存在一定关系。