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1.
目的通过对儿童免疫性血小板减少症(immune thrombocytopenia,ITP)患儿Forkhead Box P3(FOXP3)基因单核苷酸多态性检测、了解儿童ITP发病并随访疾病进展情况,探讨FOXP3基因多态性与儿童ITP发生、发展的关系,以期为开展儿童ITP的靶向治疗提供一定理论依据。方法 328例ITP患儿作为实验组,219例健康志愿者作为对照组。实验组根据病程及转归又分为两组(病程在12个月以内组、病程在12个月以上组)。利用Sequenom SNP位点分型检测方法分别检测FOXP3基因rs3761547、rs3761548、rs2232365 3个位点单核苷酸多态性。结果 1)rs2232365位点在性别年龄均匹配实验组AG基因型频率较正常对照组明显增高(P=0.013),其他2个位点单核苷酸多态性在两组之间差异无统计学意义。2)rs3761547位点在12个月以上组GG基因型及G等位基因较12月以内组明显增高(P=0.008,0.001);rs2232365位点A与G基因频率在不同病程间差异有统计学意义(P=0.033)。结论 FOXP3 rs2232365位点携带AG基因型可能为ITP发病的易感因素。携带FOXP3 rs3761547 GG基因型及G等位基因、rs2232365位点G等位基因的ITP患儿更易发展为慢性,病程迁延。rs2232365位点单核苷酸多态性与儿童ITP的发生发展均相关,可能是疾病机制的关键。  相似文献   

2.
目的:研究中国浙江籍汉族人群中可溶性环氧化物水解酶(EPHX2)基因rs2271001位点单核苷酸多态性(single nucleotide polymorphism,SNP)与冠心病的相关性.方法:176例冠心病患者(至少1支冠状动脉血管内径狭窄≥50%)为冠心病组,选取同期179例冠脉造影正常者作为对照组.采用PCR和基因测序方法,检测rs2271001位点的SNP.结果:在rs2271001位点上检测到3种基因型,其基因型分布符合Hardy-Weinberg平衡定律.冠心病组EPHX2基因rs2271001位点的AG、GG、AA基因型及G、A等位基因分布频率均高于对照组(均P<0.05).结论:EPHX2基因rs2271001位点A/G多态性与冠心病发病存在相关性,G等位基因可能是中国浙江籍汉族人群冠心病患者患病的危险等位基因.  相似文献   

3.
目的:探讨我国汉族儿童中miRNA-146a(miR-146a)基因SNP位点(rs2910164和rs57095329)基因多态性与癫痫和难治性癫痫( RE)易感性的关系。方法采用病例对照研究方法,选取癫痫患儿264例(癫痫组),其中包括RE组患儿94例,非RE组患儿170例;健康对照者303例(对照组)。利用PCR-RFLP方法检测rs2910164和rs57095329两个SNP位点的多态性分布,并进行统计分析。结果癫痫组患儿中miR-146a基因SNP位点rs57095329基因型( GG、AG、AA)频率和SNP位点rs2910164的基因型( CC、CG、GG)频率与对照组相比差异均无统计学意义( P>0.05)。在RE组中,rs57095329 SNP位点基因型频率与对照组相比差异有统计学意义(P=0.016),G等位基因频率显著高于对照组(OR=1.677,95%CI:1.146~2.424, P=0.007);而rs2910164 SNP位点基因型以及等位基因频率与对照组相比差异均无统计学意义(P>0.05);且SNP位点(rs57095329)多态性与RE的发作频率无关。结论位于miR-146a启动子区域的SNP位点(rs57095329)的多态性与RE发病相关,但与RE的发作频率无关,而SNP位点( rs2910164)与癫痫的易感性不相关。  相似文献   

4.
目的 通过检测PLCE1 rs2274223基因在青海汉、藏族胃癌患者与健康对照者中的分布,初步探讨其多态性与汉、藏族胃癌的相关性.方法 提取青海汉、藏族胃癌患者与健康人群的外周血DNA,采用dHPLC法行PLCE1 rs2274223基因位点分型.并行相关分析.结果 汉族胃癌组PLCE1基因单核苷酸多态性位点rs2274223的基因型(AA,AG,GG)频率分别为53.33%、42.50%、4.17%,对照组为56.67%、38.33%、5.00%,两组间各基因型分布差异无统计学意义(P>0.05).藏族胃癌组PLCE1 rs2274223基因的基因型(AA,AG,GG)频率分别为50.00%、40.83%、9.17%,对照组为60.83%、36.67%、2.50%,两组间AA、AG基因型分布差异无统计学意义(P>0.05),两组间GG基因型分布差异有统计学意义(P<0.05),与AA、AG型比较,携带GG基因型者胃癌发生的危险性增加(OR=3.936,95%CI=1.069-14.485).两民族间PLCE1 rs2274223的3种基因型(AA,AG,GG)频率差异无显著性(P>0.05).结论 本研究显示,两民族间PLCE1基因rs2274223的基因型(AA,AG,GG)分布频率不存在差异.PLCE1基因 rs2274223位点单核苷酸多态性与青海地区汉族人群胃癌易感性不存在相关性.携带GG基因型的青海地区藏族人群胃癌发病风险较高.  相似文献   

5.
目的?探讨辽宁地区汉族人群慢性心力衰竭(CHF)发病与IL-17A基因rs2275913、rs4711998位点单核苷酸多态性(SNP)的关系。方法?选取2018年2月—2019年3月于锦州医科大学附属第一医院心内科就诊的CHF患者131例作为CHF组,另选取同期该院健康体检者80例作为对照组。采用聚合酶链反应-限制性内切酶片断长度多态性方法检测IL-17A基因rs2275913(G-197A)、rs4711998(-877A/G)位点SNP多态性。结果?CHF组IL-17A基因rs2275913、rs4711998实际与预期基因频率比较,差异无统计学意义(P?>0.05),对照组实际与预期基因频率比较,差异无统计学意义(P?>0.05)。两组IL-17A基因rs2275913位点AA、AG及GG基因型频率分布比较,差异有统计学意义(P?<0.05),且其A、G等位基因的频率分布比较,差异有统计学意义(P?<0.05)。IL-17A基因rs2275913位点携带AA基因型的个体患CHF的风险是携带GG基因型个体的4.410倍(95% CI:1.846,10.535)。CHF组IL-17A基因rs2275913(G-197A)位点携带A等位基因频率高于对照组(P?<0.05)。未发现IL-17A基因rs4711998位点SNP与CHF发病的相关性(均P?>0.05)。结论?IL-17A基因rs2275913(G-197A)位点多态性可能与CHF的发病有关,且A等位基因携带者更容易患CHF。rs4711998(-877A/G)位点与CHF的发病无相关性。  相似文献   

6.
目的探讨IL-17基因启动子区单核苷酸多态性(SNP)与儿童哮喘及患儿血清总IgE水平之间的关系。方法提取287例哮喘患儿和217例健康儿童外周血基因组DNA,采用PCR-LDR技术检测了IL-17基因启动子区的4个SNPs位点(rs4711998、rs8193036、rs3819024和rs2275913),与GenBank公布的IL-17基因序列(NT007952.15 GI:224514668)比较,分析其在两组儿童中的基因型及等位基因频率的分布,以及哮喘患儿血清总IgE水平及其在不同基因型中的差异。结果两组rs4711998位点基因型分布差异有统计学意义(P=0.03),哮喘组GG纯合子基因频率为9.6%,明显高于健康对照儿童组(4.1%);rs8193036、rs3819024、rs2275913三个SNP位点的基因型分布在两组间差异无统计学意义。哮喘组血清总IgE水平在4个SNP位点基因型间的分布差异均无统计学意义。结论 IL-17基因启动子区SNP rs4711998可能是儿童哮喘易感位点,其中rs4711998 GG纯合子基因型与哮喘发病密切相关。  相似文献   

7.
目的:探讨ADAMTS14基因rs4747096位点单核苷酸多态性与中国汉族女性颞下颌关节骨关节炎之间的相关性。方法:采用病例-对照研究,纳入213例受试者,均为中国汉族女性,其中病例组103例,健康对照组110例。从采集的外周静脉血中提取基因组DNA,通过聚合酶链式反应扩增目的片段,对反应产物测序确定基因分型并进行统计分析。病例组及实验组的年龄分布采用t检验,基因型及等位基因频率分布采用卡方检验。结果:病例组103例中基因型频率为38.8%(AA)、55.4%(AG)、5.8%(GG),对照组110例中基因型频率为40.9%(AA)、43.6%(AG)、15.5%(GG)。基因型频率在两组中的差异有统计学意义(P=0.047),等位基因频率在两组中差异无统计学意义(P>0.05)。显性遗传模式中,病例组基因型频率为94.2%(AA或AG)、5.8%(GG),对照组基因型频率为84.5%(AA或AG)、15.5%(GG),病例组中AA、AG型明显高于对照组,是发病的风险因素(OR=1.114,95% CI:1.015~1.223,P=0.028)。结论:ADAMTS14基因rs4747096位点的单核苷酸多态性与中国汉族女性人群颞下颌关节骨关节炎之间存在明显相关性,rs4747096位点的单核苷酸多态性在颞下颌关节骨关节炎患者及健康人群中的分布存在差异。  相似文献   

8.
目的研究新疆汉族及维吾尔族女性散发性乳腺癌患者BRCA1及BRCA2基因单核苷酸多态性(Single Nucleotide Polymorphisms,SNP)的差异。方法收集新疆医科大学第一附属医院手术切除并经病理确诊为乳腺癌100例患者的活检样本,维吾尔族和汉族患者各50例。BRCA1基因引物设计参考NM007300.3和NC000017.11,BRCA2基因引物设计参考NM000059.3和NC000013.11,合成引物后对BRCA1及BRCA2基因SNP位点进行测序,采用SPSS17.0统计软件对数据进行卡方检验。结果在BRCA1-Exon10上有2个单核苷酸多态性位点(rs16941及rs16942)。BRCA1-Exon2内含子上有1个突变位点(Introns1-1125)。BRCA2基因未检测到基因多态性。BRCA1基因,rs16941位点的AA、AG、GG 3个基因型在汉族和维吾尔族患者中的分布频率差异有统计学意义(P=0.009)。rs16942位点的AA、AG、GG 3个基因型在汉族和维吾尔族患者中的分布频率差异有统计学意义(P=0.017)。rs16941位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性[OR值(95%CI)分别为2.498(1.0335.994)及6.519(1.60626.464)]。rs16942位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性[OR值(95%CI)分别为2.368(0.9955.637)及5.741(1.39523.630)]。结论 BRCA1基因,rs16941及rs16942位点的AA、AG、GG 3个基因型的分布频率在汉族和维吾尔族患者中存在差异。rs16941及rs16942位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性。  相似文献   

9.
目的研究脱氧胞苷激酶(DCK)的单核苷酸多态性(SNP)及其对阿糖胞苷(Ara-C)治疗急性髓系白血病(AML)疗效的影响。方法采用高温连接酶检测反应技术,检测126例接受Ara-C治疗的AML患者(AML组)和100名健康人(正常对照组)DCK基因7个SNP位点(SNP1~7)的基因型和等位基因分布频率,比较DCK不同基因型分布AML组患者的Ara-C治疗效果。结果 DCK基因SNP1(rs2306744)等位基因和SNP2(rs12648166)基因型分布频率,在正常对照组与AML组和Ara-C治疗无效组(n=35)之间比较,差异均有统计学意义(P〈0.05)。在AML组,SNP1的CC型基因型和SNP2的多态性基因型(AG+GG型)以及SNP3(rs4694362)的野生型基因型,对Ara-C治疗表现出较好的临床反应。结论 DCK基因的SNP能作为潜在的Ara-C治疗AML患者预后的分子标志之一。  相似文献   

10.
  目的  初步探讨TAB2(transforming growth factor-beta activated kinase 1 binding protein 2)基因与中国西南地区汉族人群隐睾症发病的相关性。  方法  选取西南地区259名隐睾患者和355名成年男性健康对照,采用聚合酶链式反应-限制性片段长度多态性分析方法,对TAB2基因的3个标签单核苷酸多态性位点(tag single nucleotide polymorphism, tag SNP)rs237028、rs521845、rs652921进行基因分型,并采用卡方检验分析3个tag SNP位点与隐睾症发病的关系。  结果  本实验的3个tag SNP位点基因型频率分布均符合Hardy-Weinberg平衡,限制性酶切实验分型结果与Sanger测序结果一致。TAB2 rs237028位点的G等位基因在隐睾组中的频率高于对照组(30.9% vs. 25.6%,P=0.04,OR=1.31,95%CI:1.01~1.70),在显性遗传模型中AG/GG基因型携带者罹患隐睾症的风险升高(P=0.006,OR=1.57,95%CI:1.14~2.17)。在隐睾组中rs652921位点的TC/CC基因型频率高于对照组,差异有统计学意义(75.3% vs. 67.0%,P=0.03;OR=1.50,95%CI:1.05~2.14)。未观察到rs521845与中国人群隐睾遗传易感性的相关性。  结论  TAB2基因rs237028的AG/GG基因型和rs652921的TC/CC基因型可能与中国西南地区汉族人群罹患隐睾症的风险性增加相关。  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.
Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P< 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P< 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.  相似文献   

15.
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   

16.
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   

17.
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   

18.
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   

19.
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   

20.
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   

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