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1.
载脂蛋白E上3个氨基酸缺失-脂蛋白肾病相关的基因突变   总被引:12,自引:0,他引:12  
目的 通过对3例脂蛋白肾病患者(其中2例为母子,1例与他们无血缘关系)的载脂蛋白E(apoE)基因的分析,研究脂蛋白肾病的发病机制。方法 使用限制性酶切片段长度多态性的方法分析3例患者及其中一些家系成员的apoE的基因型,对患者的apoE进行DNA测序。结果 该3例脂蛋白肾病患者均携带一个apoE的突变体(3个氨基酸的缺失)。结论 该突变与脂蛋白肾病有关,在中国汉族人可能为脂蛋白肾病的致病性基因突变。  相似文献   

2.
糖尿病肾病是糖尿病的主要慢性并发症之一,目前被认为是导致晚期肾功能衰竭的主要原因,但病因尚未完全阐明。流行病学研究表明,2型糖尿病肾病的发生发展除与血糖控制水平、病程长短、血压等有关外,还具有遗传易感性。近年来,有相关研究显示载脂蛋白E(apoE)基因多态性与2型糖尿病肾病的发生发展存在密切关系。其中大多数研究显示apoEε2等位基因是发生2型糖尿病肾病的危险因素,而apoEε4等位基因是2型糖尿病肾病的保护因素,但仍有一些研究得出了相反的结论。目前,apoE基因多态性与2型糖尿病肾病相关性的研究结论尚不统一或存在争议。  相似文献   

3.
【目的】应用基质辅助激光解吸电离飞行时间质谱技术检测人类载脂蛋白E(apoE)基因的多态性。【方法】用PCR扩增出含apoE两个单核苷酸多态性(SNPs)位点(334T/C和472C/T)的DNA片段作为模板,经延伸反应,产物纯化后利用MALDI-TOF MS进行检测。从而确定样本apoE基因型。【结果】应用本技术对50例广东地区无关个体进行apoE基因多态性检测,共检出3种常见的apoE基因型,其中以apoE∑3/3型最多,占总数的74.00%;等位基因频率分布以ε3(87.00%)最高。【结论】本实验建立的基于MALDI-TOF MS与引物延伸技术检测apoE基因多态性的方法,具有快速、准确和可靠的特点。  相似文献   

4.
目的探讨中国汉族人载脂蛋白E基因、低密度脂蛋白受体相关蛋白基因多态性与Alzheimer病(AD)的相关情况。方法应用PCR-RFLP方法,在67例AD患者和77例正常人中观察apoE基因、LRP基因多态性的分布,进行关联分析。结果apoEε4与AD有显著的关联,AD患者LRP基因C/C纯合子基因型频率及等位基因C频率均高于对照组(P<0.05)。结论中国汉族人群中,apoE基因多态性、LRP基因多态性与AD呈正相关。  相似文献   

5.
载脂蛋白E基因多态性与小儿肾小球疾病   总被引:1,自引:0,他引:1  
胡鹏  覃远汉 《医学综述》2005,11(11):965-967
载脂蛋白E(apolipoprotien E,apoE)是脂质代谢过程中重要的调节因子。apoE基因多态性与疾病的关系是目前医学研究的热点。已经有很多研究表明,apoE基因多态性与冠心病(coronary heart diseases,CHD)、阿尔茨海默病痴呆(Alzheimer′s diseases,AD),还有很多肾小球疾病(nephrotic  相似文献   

6.
目的:探讨Alzheimer病(AD)与apoEε4基因之间的关联性。方法与结果.ApoE基因的扩增采用聚合链式反应(PCR)方法研究16例患者apoEε4的基因型多态性,结果发现AD遗传易感因子apoEε3/4与apoEε4/4基因频率分别高迭43.75%和12.5%,未检测到AD遗传保护因子apoEε2/2。结论:大多数AD患者具有apoEε4基因的易感性。  相似文献   

7.
[目的]应用基质辅助激光解吸电离飞行时间质谱技术检测人类载脂蛋白 E(apoE)基因的多态性.[方法]用 PCR扩增出含 apoE两个单核苷酸多态性( SNPs)位点 (334 T/C和 472 C/T)的 DNA片段作为模板,经延伸反应,产物纯化后利用 MALDI-TOF MS进行检测.从而确定样本 apoE基因型.[结果]应用本技术对 50例广东地区无关个体进行 apoE 基因多态性检测,共检出 3种常见的 apoE基因型,其中以 apoEΣ 3/3型最多,占总数的 74.00%;等位基因频率分布以ε 3( 87.00%)最高.[结论]本实验建立的基于 MALDI-TOF MS与引物延伸技术检测 apoE基因多态性的方法 ,具有快速、准确和可靠的特点.  相似文献   

8.
目的 探讨各临床分型HBV感染者 (CHB)apoE基因多态性的分布情况。方法 采用PCR法扩增apoE基因片段 ,荧光偏振的方法检测apoE基因型。 结果 三种apoE基因型在慢性HBV感染者中的分布频率与正常人群相比无明显差异。而CHB轻度组apoEε4高于正常值范围并与CHB中度、重度组相比有显著差异 (均P <0 .0 5 ) ;肝硬化组与非肝硬化组之间apoE基因频率无显著差异。结论 apoE基因与慢性HBV感染发生无相关性 ,高水平的apoEε4基因可对抗HBV感染后的肝损伤  相似文献   

9.
目的 研究贵州布依族人群载脂蛋白E基因多态性分布特征,分析apoE基因多态性对脂质代谢的影响.方法 应用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)对贵州省黔南州201例布依族和217例汉族人群血样品进行apoE基因分型,并研究等位基因频率特征与血脂的关系.结果 201例布依族和217例汉族apoε2、ε3、ε4等位基因频率分别为:6.71%、82.34%、10.95%;9.22%、84.10%、6.68%,二者差异无统计学意义(P>0.05).与其他种族、民族人群比较,布依族ε2、ε3、ε4等位基因频率处于中等水平.布、汉两民族apoE不同基因型亚组血脂、载脂蛋白、脂蛋白结果显示:与apoE2携带者(apoE2/2+ E2/3+ E2/4)比较,apoE3/3纯合子和apoE4携带者(apoE3/4+E4/4)血清TC、LDL-c、apoB水平均显著升高(P<0.01).结论 apoE基因型和等位基因频率存在民族、种族差异.布依族apoE基因多态性与血脂、载脂蛋白、脂蛋白水平有关.  相似文献   

10.
冠心病是临床多发疾病,主要病理基础是冠状动脉粥样硬化,发病机制至今尚未完全清楚,可能与血脂紊乱、高同型半胱氨酸代谢酶基因多态性、炎症反应等有关。载脂蛋白E(apoE)影响着人体脂质代谢的各个环节,因此,apoE基因的突变将对apoE的数量、质量以及表型产生一定的影响,进而影响冠心病的发生发展。apoE启动子区域的单核苷酸多态性(SNPs)与冠心病发生密切相关,但不同的研究结果不同,这可能与不同地区、民族、种族等的人群apoE基因SNPs存在差异有关。  相似文献   

11.
Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P < 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (>0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P <0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P < 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.  相似文献   

12.
Objective: To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods: SD rats served as both donors and recipients. 4℃ sodium lactate Ringer's was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava (IVC) inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results: Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion: This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.  相似文献   

13.
FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…  相似文献   

14.
Shock wave lithotripsy (SWL) is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it's difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.  相似文献   

15.
Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.  相似文献   

16.
INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5  相似文献   

17.
People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.  相似文献   

18.
Objective: To observe the therapeutic effects in acupunture treatment of primary dysmenorrhea combined with spinal Tui Na, and study its mechanism. Methods: Thirty cases of the treatment group were treated by acupuncture combined with spinal Tui Na, and thirty cases in the control group were treated by routine acupuncture. Results: The total effective rate was 93.3% in the treatment group, and 73.3% in the control group, with a significant difference between the two groups (P<0.05). Conclusions: Acupuncture combined with spinal Tui Na has good prospects for treatment of primary dysmenorrhea.  相似文献   

19.
In treating chronic nephropathy,Luo Lingjie,a chief physician,pays attention to regulating the balance between yin and yang,treating infection if present,and removing pathogenic factors.He prescribes gentle drugs and uses carefully strongly warming-tonifying ones,emphasizes the importance of persuading the patient to persist in treatment with medication and nurse one's health for recuperation,and is good at combined use of TCM and western medicine therapy and brings the merits of various therapies into full play,with obvious theraoeutic effects.  相似文献   

20.
Dr.Zhang Ren,the chief physician,is the chairman of Shanghai Acupuncture and Moxibustion Association.Having been engaged in medicine for about 40 years,he is experienced in treating various intractable diseases.In his long years of clinical practice,he advocates taking the TCM differentiation as the basis to seek for the acupuncture method for treatment of modern intractable diseases.The author of this essay had the fortune to follow Dr.Zhang in study.The following is a summary of Dr.Zhang's experience in the acupuncture treatment for different intractable diseases with the same therapeutic principle.  相似文献   

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