CYP11B2-344T/C基因多态性与2型糖尿病肾病的关系

目的:研究2型糖尿病(T2DM)患者CYP11B2-344T/C基因多态性与糖尿病肾病(DN)的相关性以及与DN不同分期的关系。方法:将145例T2DM患者分为DN组73例和糖尿病非肾病组(NDN组)72例,另选择52例门诊体验健康人为正常对照组(NC组)。应用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)对以上197例观察对象进行基因型分析。结果:(1)DN患者存在CYP11B2-344T/C多态性,本研究197例观察对象中CYP11B2-344T/C多态性存在CC、CT、TT3种基因型,频率分别为12.7%、50.3%、37.1%;C、T等位基因频率分别为31.2%、68.8%。(2)DN组CYP11B2-344T/CT等位基因频率明显高于NC组(P<0.05)。(3)DN组CYP11B2-344T/C多态性CC、CT、TT3种基因型各临床指标均数比较差异无显著性(均P>0.05)。(4)DN组内微量白蛋白尿期、临床白蛋白尿期和肾功能不全期CC、TT、CT基因型频率和C、T等位基因频率差异均无显著性(均P>0.05)。(5)CYP11B2-344T/C基因型与DN无相关性(P>0.05)。(...     

新疆哈萨克族、维吾尔族、汉族代谢综合征与CYP11B2基因-344T/C多态性相关性研究

目的:探讨新疆哈萨克、维吾尔、汉族不同人群醛固酮合成酶基因CYP11B2基因(-344)T/C多态性与代谢综合征(metabolic syndrome,MS)的关联性.方法:选取新疆哈萨克、维吾尔、汉族居民共1 220例,均用常规方法提取白细胞DNA.用PCR结合限制性内切酶(HaeⅢ)检测CYP11B2基因(-344)T/C多态性.根据有无MS分为MS组(汉族130例,哈萨克族115例,维吾尔族130例)和对照组(汉族206例,哈萨克族285例.维吾尔族354例).结果:(1)3个民族标化后MS的患病率明显不同(P<0.05).(2)3个民族CYP11B2-344T/C基因多态性CC、CT、TT基因型频率及等位基因分布频率相比较,差异有统计学意义(P<0.05).(3)维吾尔、哈萨克、汉3个民族CYP11B2-344T/C基因多态性CC、CT、TT基因型频率及等位基因分布频率分别与对照组比较,差异无统计学意义(P>0.05).结论:新疆地区维吾尔、哈萨克、汉族CYPllB2基因-344T/C多态性存在差异性,各民族内代谢综合征与CYP11B2基因-344T/C多态性无相关性.     

2型糖尿病肾病患者ApoA5-1131T/C基因多态性与脂蛋白a水平相关性研究

目的 探讨载脂蛋白A5基因(ApoA5)-1131T/C基因多态性与糖尿病肾病(DN)患者脂蛋白a[LP(a)]水平的相关性.方法 用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术检测40例健康人及45例DN患者ApoA5-1131T/C基因型,并对等位基因频率分布情况进行统计;用透射比浊法在奥林帕斯2700型全自动生化分析仪检测LP(a)水平.结果 TT,TC,CC基因频率在DN组和对照组分别为66.7%,20.0%,13.3%和67.5%,25.0%,7.5%,两组之间差异无统计学意义(P＞0.05).DN组C等位基因携带者(TC+CC)LP(a)水平显著高于非C等位基因携带者(TT)(278.33 mg/L vs 215.37 mg/L,P＜0.01).结论 ApoA5-1131T/C基因多态性对人群LP(a)有显著影响.C等位基因可导致糖尿病肾病患者LP(a)水平增高,且与2型糖尿病肾病患者患病风险有一定关系.     

G蛋白β3亚单位基因C825T等位基因多态性与糖尿病肾病的相关性

目的:研究G蛋白β3亚单位基因(GNB3)C825T等位基因与糖尿病肾病(DN)的相关性.方法:本组均为2型糖尿病(DM)患者,随机选取95例DN患者(DN组)和51例无肾病的2型DM患者(DM组),DN组再分为微量蛋白尿组和显著蛋白尿组,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测各组的基因型和等位基因频率.结果:(1)DN组的TT基因型及T等位基因频率均明显高于DM组(P＜0.01).(2)微量蛋白尿组的TT基因型较DM组TT基因型携带者显著增加(P＜0.05),T等位基因频率显著增高(P＜0.01).结论:GNB3 C825T等位基因与早期和中晚期DN均有相关性,可作为评估2型DM患者发生肾病危险性的一个遗传学指标.     

醛固酮合酶基因多态性与原发性高血压相关性研究

目的探讨醛固酮合酶基因(CYP11B2)-344T/C多态性与原发性高血压的相关性。方法采用关联分析,收集湖南地区汉族男性原发性高血压患者100例,正常对照100名。应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对2组对象的CYP11B2-344T/C多态进行分析。结果2组对象CYP11B2基因型(TT型、CT型和CC型)的频率差异无统计学意义(χ2=0.34,P>0.05),等位基因的频率差异也无统计学意义(χ2=0.28,P>0.05),但各组内等位基因T的频率(原发性高血压组:67.67%)高于等位基因C(32.33%);对照组T69.67%高于C 30.33%。结论多基因联合分析显示,在男性患者中,CYP11B2-344T/C多态性与原发性高血压无明显相关,但CYP11B2-344各组内等位基因T的频率高于等位基因C。     

河北汉族人群醛固酮合成酶基因-344C/T多态性研究

目的对中国河北省正常人群CYP11B2基因-344C/T多态性分布特点进行初步研究。方法选取唐山市正常健康体检者,提取白细胞DNA,PCR扩增CYP11B片段,应用限制性内切酶HaeⅢ37℃酶切2h。酶切产物行25g/L琼脂糖凝胶电泳。紫外灯下观察基因型。结果CYP11B2基因-344C/T多态性在河北正常人群中分布是CC16.0%、CT41.7%、TT52.5%,C等位基因为26.8%,男女之间基因型、等位基因频率差异无统计学意义(P=0.544、0.382)。CYP11B2基因-344C/T多态性分布与日本、芬兰、南非、法国、德国、比利时等国正常人群分布存在显著性差异,不同种族之间差异有统计学意义(P<0.004)。结论不同种族、不同地区正常人群CYP11B2基因-344C/T多态性分布存在明显差异。     

EMILIN1 CYP11B2基因多态性与原发性高血压相关性研究

目的 研究 EMILIN1、CYP11B2基因多态性与原发性高血压的相关性。方法 回顾性分析该院2010年3月至2012年3月期间收治的100例原发性高血压患者,将其作为临床研究对象（患者组）,另选取血压正常的健康自愿者100例作为健康对照组,进行基因多态性的对比研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法 分别检测两组EMILIN1基因SNP位点和CYP11B2基因SNP位点的等位基因及基因型分布情况。结果 患者组患者EMILIN1基因rs2304682位点上的基因型与等位基因频率与健康对照组比较,差异有统计学意义（P＜0．05）,患者组CG基因型、G等位基因频率明显高于健康对照组,而CC基因型、C等位基因频率则比健康对照组低;CYP11B2基因多态性基因型及等位基因频率发现,患者组（CYP11B2）-344 T/C基因多态性中TT基因型、T基因频率明显高于健康对照组,而CT 基因型、C基因频率则低于健康对照组,差异均有统计学意义（P＜0．05）。结论 EMILIN1基因多态性可能与原发性高血压有一定的相关性,（CYP11B2）-344T/C位点上等位基因T的频率较高。     

醛固酮合酶基因多态性与原发性高血压相关性研究

目的探讨醛固酮合酶基因（CYP11B2）-344T/C多态性与原发性高血压的相关性。方法采用关联分析,收集湖南地区汉族男性原发性高血压患者100例,正常对照100名。应用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对2组对象的CYP11B2-344T/C多态进行分析。结果2组对象CYP11B2基因型（TT型、CT型和CC型）的频率差异无统计学意义（χ^2=0.34,P〉0.05）,等位基因的频率差异也无统计学意义（χ^2=0.28,P〉0.05）,但各组内等位基因T的频率（原发性高血压组：67.67%）高于等位基因C（32.33%）;对照组T69.67%高于C 30.33%。结论多基因联合分析显示,在男性患者中,CYP11B2-344T/C多态性与原发性高血压无明显相关,但CYP11B2-344各组内等位基因T的频率高于等位基因C。     

吉林省地区朝鲜族和汉族健康人群醛固酮合酶基因（CYP11B2）-344T/C多态性分布的研究

目的分析我国吉林省地区朝鲜族和汉族健康人群醛固酮合酶基因（CYP11B2）-344T/C多态性的分布。方法应用聚合酶链反应（Polymerase Chain Reaction,PCR）和限制性片段长度多态性（Restriction Fragment LengthPolymorphism,RFLP）技术,对67名朝鲜族和59名汉族健康人群CYP11B2基因多态性进行检测,并比较基因型和等位基因频率的分布特征。结果 67名朝鲜族中CYP11B2基因CC、TC和TT基因型频率分别为9%（6/67）、22%（15/67）和69%（46/67）;59名汉族中CC、TC和TT基因型频率分别为19%（11/59）、27%（16/59）和54%（32/59）,两者差异无显著性（χ2=3.522;P=0.172）。朝鲜族人群C和T等位基因频率分别为20%和80%;汉族人群分别为32%和68%,两者差异具有显著性（χ2=4.763;P=0.029）。结论吉林省地区朝鲜族和汉族健康人群（CYP11B2）-344T/C基因型分布频率差异无显著性,朝鲜族健康人群T等位基因频率高于汉族。     

亚甲基四氢叶酸还原酶基因多态性与河北地区汉族人2型糖尿病肾病易感性的研究

目的　探讨亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与 2型糖尿病肾病 (DN)易感性的关系。方法　利用聚合酶链反应限制性片段长度多态性分析法 (PCR RFLP)检测 175例河北地区汉族人 [12 3例为 2型糖尿病患者 (T2DM ) ,其中 6 9例合并糖尿病肾病 (DN +) ,5 4例不伴肾病 (DN - ) ,5 2例为健康对照者 (HC) ]MTHFR基因第6 77位碱基多态性。分别测定各组MTHFR等位基因和基因型的频率 ,比较各组间频率分布差异是否具有统计学意义。结果　糖尿病肾病 (DN +)患者MTHFR基因纯合突变型 (TT)和等位基因 (T)频率均明显高于糖尿病无肾病(DN - )患者及健康者 (HC) ,分别为 30 .4 3%vs 16 .6 7%、13.4 6 % ,Ρ <0 .0 5 ,和 5 4 .35 %vs 36 .11%、37.5 0 % ,Ρ <0 .0 1。结论　MTHFR基因 6 77C→T突变为河北地区汉族人T2DM患者发生DN的一个遗传易感因素     

Atomic and electronic structure of solids of Ge2Br2PN,Ge2I2PN,Sn2Cl2PN,Sn2Br2PN and Sn2I2PN inorganic double helices: a first principles study

We report the results of density functional theory calculations on the atomic and electronic structure of solids formed by assembling A₂B₂PN (A = Ge and Sn, B = Cl, Br, and I) inorganic double helices. The calculations have been performed using a generalized gradient approximation for the exchange–correlation functional and including van der Waals interactions. Our results show that the double helices crystallize in a monoclinic lattice with van der Waals type weak interactions between the double helices. In all cases except Ge₂Cl₂PN, the solids are stable with a binding energy between the double helices ranging from 0.06 eV per atom to 0.09 eV per atom and inter-double helices separation of more than 3.33 Å. All the solids are semiconducting. Further calculations have been done by using meta-GGA with a modified Becke–Johnson functional to obtain better band gaps, which are found to lie in the range of 0.91 eV to 1.49 eV. In the case of Ge₂Br₂PN the solid is a direct band gap semiconductor although the isolated double helix has an indirect band gap and it is suggested to be interesting for photovoltaic, and other optoelectronic applications. The charge transfer between the atoms has been studied using Bader charge analysis and the DDEC6 method in the CHARGEMOL program, which suggests charge transfer from the outer helix to the inner helix.

We report the results of density functional theory calculations on the atomic and electronic structure of solids formed by assembling A₂B₂PN (A = Ge and Sn, B = Cl, Br, and I) inorganic double helices.     

Shape-dependent close-edge 2D-MoS2 nanobelts

Atomic-thin MoS₂ materials have attracted increasing attention due to their potentials in numerous fields. However, in 2D-MoS₂ sheets, the edge region usually has unique features differing from the interior region, which has potential application in enhancing catalysts and shape-dependent 2D-nanodevices. However, fabricating it cost-effectively is still very difficult. Here, we present one universal method to obtain various shape-dependent closed-edge 2D-MoS₂ nanobelts only using one simple step, and width of the MoS₂ nanobelts (minimum of 270 nm) were adjustable. Our strategy opens a new fabrication route for closed-edge 2D-MoS₂ nanobelts, and in principle, this method is also suitable for other CVD-grown 2D materials.

A very simple mechanical peeling method to obtain various closed and shape-dependent MoS₂ edge nanobelt.     

Efficient and stable transduction of dopaminergic neurons in rat substantia nigra by rAAV 2/1, 2/2, 2/5, 2/6.2, 2/7, 2/8 and 2/9

Dysfunction of the nigrostriatal system is the major cause of Parkinson's disease (PD). This brain region is therefore an important target for gene delivery aiming at disease modeling and gene therapy. Recombinant adeno-associated viral (rAAV) vectors have been developed as efficient vehicles for gene transfer into the central nervous system. Recently, several serotypes have been described, with varying tropism for brain transduction. In light of the further development of a viral vector-mediated rat model for PD, we performed a comprehensive comparison of the transduction and tropism for dopaminergic neurons (DNs) in the adult Wistar rat substantia nigra (SN) of seven rAAV vector serotypes (rAAV 2/1, 2/2, 2/5, 2/6.2, 2/7, 2/8 and 2/9). All vectors were normalized by titer and volume, and stereotactically injected into the SN. Gene expression was assessed non-invasively and quantitatively in vivo by bioluminescence imaging at 2 and 5 weeks after injection, and was found to be stable over time. Immunohistochemistry at 6 weeks following injection revealed the most widespread enhanced green fluorescence protein expression and the highest number of positive nigral cells using rAAV 2/7, 2/9 and 2/1. The area transduced by rAAV 2/8 was smaller, but nevertheless almost equal numbers of nigral cells were targeted. Detailed confocal analysis revealed that serotype 2/7, 2/9, 2/1 and 2/8 transduced at least 70% of the DNs. In conclusion, these results show that various rAAV serotypes efficiently transduce nigral DNs, but significant differences in transgene expression pattern and level were observed.     

Interleukin-2 (IL-2) immunotherapy

Various forms of immunotherapy have been employed for the treatment of cancer patients during the past 5 years, with recombinant interleukin-2 (IL-2) having been widely used in these treatment regimes. The progress of IL-2 immunotherapy is discussed.     

乳腺癌环氧合酶-2和基质金属蛋白酶-2及其抑制因子的表达

目的 研究环氧合酶(COX)-2、基质金属蛋白酶(MMP)-2及其抑制因子(TIMP-2)在乳腺癌组织中的蛋白表达及其相互关系.方法 建立组织芯片平台,应用免疫组织化学S-P法检测127例乳腺癌组织COX-2、MMP-2和TIMP-2蛋白的表达情况.结果 乳腺癌COX-2、MMP-2和TIMP-2阳性率分别为81.1%(103/127)、96.9%(123/127)和60.6%(77/127);COX-2的表达与乳腺癌腋淋巴结转移和TNM分期均呈正相关(P<0.01,P<0.05),与孕激素受体表达呈负相关(P<0.05);MMP-2蛋白表达与COX-2表达呈显著正相关(r=0.290,P<0.01).结论 乳腺癌COX-2表达状况与肿瘤侵袭转移有密切关系,COX-2可能通过调控MMP-2表达来促进肿瘤侵袭转移.