母系遗传糖尿病线粒体基因突变的观察

采用PCR-RFLP、DNA直接测序技术对14个有明确母系遗传史的糖尿病家系进行线粒体基因筛查。结果14例先证者及对照组均未检出A3243G等3个线粒体基因突变位点。家系成员发现携带G3316A突变，T3394C突变，三例均为健康携带者。结论G3316A突变、T3394C突变不是糖尿病的独立致病因素。     

线粒体DNA ND-1基因点突变与2型糖尿病的关系

2型糖尿病患者中线粒体DNA（mtDNA)3316G→A，3316G→A，3394T→C突变频率分别为3.9%(6/152)和5.3%(8/152)，显著高于正常对照者及冠心病患者，提示mtDNA3316G→A，3394T→G突变与2型糖尿病相关。     

糖尿病与线粒体ND1点突变的关系

目的探讨湖北省线粒体基因的热点突变区域ND1点突变(3243,3316,3394,3593)与老年2型糖尿病的关系。方法采用聚合酶链反应-限制性片段长度多态性法对无血缘关系的134例老年糖尿病患者及152例正常对照个体的血细胞线粒体DNA进行突变分析。结果病例组中3316G→A点突变率为3·7%,3394T→C点突变发生率为3·0%,而对照组3316和3394的突变率分别为0·66%和0,3394组间差异比较均有显著性(P<0·05)。病例组中3593点突变发生率为0·75%,对照组未见该突变,两组间差异无显著性。未发现3243的突变。结论线粒体DNA3394T→C突变与老年线粒体糖尿病的发生与发展有关,并起着重要作用。     

线粒体基因5个位点与2型糖尿病早发的关联研究

用PCR-RFLP及DNA测序方法对湖北省汉族人群无血缘关系的102例发病年龄≤45岁2型糖尿病患者及104例正常对照个体的线粒体DNA tRNA Leu（UUR）基因及ND-1基因5个位点进行突变分析。实验组检出3714（A→G）突变2例,两组间仅nt3316（G→A）突变的发生率有统计学差异。推测该位点变异可能与某些核基因或环境因素协同与汉族人群中的线粒体糖尿病的早发及发展有关。     

线粒体DNA变异与老年2型糖尿病患者易感性的相关性

目的 研究湖北地区老年2型糖尿病(T2DM)患者中线粒体基因突变的发生率及其相关性.方法 采用PCR-RFLP、基因测序技术,对175例老年T2DM患者和200例糖耐量正常的健康老年对照组进行检测.结果 MIND1 3316(G→A)、MTTL1 3243(A→G)、MIND13394( T→C)、MIND14216(T→C) MIND14164(A→G)和MIND2 5178( T→C)变异率分别为3.26％、2.72％、1.71％、4％、34.9％;对照组检出3316(G→A)突变2例(0.99％)、4164 5例(0.99％)、5718(T→C)变异64例(32.3％),未检出3394、4216的点突变;两组间3394(T→C)变异率差别有统计学意义(P＜0.05);且T2DM组5178A基因型血清TC水平低于5178C基因型(P＜0.05),但TG、LDL-C、HDL-C、apoA、apoB、Lp(a)水平两组无统计学意义.结论 3394( T→C)与老年T2DM患者的易感性有一定关联,5178(T→C)变异与湖北地区老年汉族人T2DM的脂代谢相关.     

中国人2型糖尿病人群中线粒体基因突变的发生率及其临床特点的研究

目的了解线粒体tRNALeu(UUR)nt3243A→G突变在中国人2型糖尿病人群中的精确发病率及该基因突变所导致的2型糖尿病的临床特征。方法采用PCR-RFLP技术对716例随机抽取的无亲缘关系的2型糖尿病患者进行了该突变的筛查。结果在2型糖尿病组中发现3例该基因突变携带者,代表了被筛选人群的0.4％。此外,本研究还对近年来报道的与日本人2型糖尿病相关的ND1基因nt3316G→A突变进行了筛查,在2型糖尿病组中发现16例(2.2％)突变携带者,在181例正常对照组中发现5例突变携带者(2.7％),突变的发生率在两组间无显著性差异。携带mt3316位点G→A突变的2型糖尿病组与无该突变的2型糖尿病组之间的临床特点(发病年龄,体重指数,胰岛素分泌功能)比较亦无显著性差异。结论mt3316位点G→A突变可能仅为人群中的基因多态性。     

线粒体DNA3161-3610片断基因突变与糖尿病的关系

104例糖尿病（DM）患者和50名正常无DM家族史对照者的基因测序研究显示，线粒体DNA3316G→A伴随3290 T→C、3421G→A点突变；3497C→T和3571C→T同时基因突变可能与DM发生有关。     

2型糖尿病相关线粒体ND1基因的荟萃分析

目的利用荟萃分析评价线粒体NDI基因点突变与2型糖尿病发病的相关性。方法通过文献检索收集1999年1月至2008年9月在中英文公共数据库检索或已经发表的线粒体NDl基因点突变与2型糖尿病相关的病例对照研究。按照本研究纳入和排除标准,筛选线粒体NDl基因G3316A、T3394C 2个点突变作为研究对象。应用STATA 9.0 SE软件对各研究进行综合分析。结果在病例对照研究中,线粒体G3316A、T3394C相对危险度合并OR值和95%CI分别为:2.70(1.39～5.24)、3.44(1.41～8.40)。结论线粒体G3316A、T3394C点突变可能与中国人2型糖尿病遗传易感性相关。     

老年2型糖尿病患者线粒体ND1基因常见突变位点的快速筛查

2型糖尿病是慢性代谢疾病，呈高龄人群高发病率的特点，尤其是持续高血糖所引发的心血管疾病、终末期肾病等并发症严重困扰着老年2型糖尿病患者。线粒体基因缺陷是其遗传易感因素之一，在诸多报道的突变位点中，以位于tRNA leu（UUR）基因3243（A—G）突变及ND1基因的3316（G→A）、3394（T→C）和3593（T→C）突变最为常见。我们以老年2型糖尿病为研究对象，     

线粒体基因碱基变异与老年2型糖尿病的易感性研究

目的 探讨线粒体基因3243和3426位点碱基变异与老年2型糖尿病的易感性。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法，对186例老年2型糖尿病患者和170例健康对照者的线粒体基因3243和3426位点进行筛选分析，并以DNA测序方法确认。结果 两组均未检出3243A→G变异和3426A→G变异，测序中发现糖尿病组3290T→C变异1例。结论 线粒体基因3243A→G变异和3426A→G变异可能与湖北地区老年2型糖尿病的易感性无关联性。     

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。