基于美国高加索人群瘦体重的全基因组关联研究

为了寻找与瘦体重相关的单核苷酸多态性(SNP)位点及易感基因,在2 283名不相关的美国高加索人群中对瘦体重指数(LMI)进行全基因组关联分析(GWAS),并在1 000名不相关的美国高加索人群中验证,将研究结果与验证结果进行荟萃分析。研究发现,位于19p13.3区域的UQCR, MBD3和TCF3基因与LMI相关联。UQCR基因上rs8697(合并p=4.94×10~(-3))和rs56122285(合并p=2.59×10~(-3))具有eQTL效应,MBD3基因上rs8110543(合并p=6.88×10~(-3))和rs7252741(合并p=1.22×10~(-2))具有eQTL效应,DB得分分别为1b和1f。本研究进一步证实了UQCR,MBD3和TCF3基因在瘦体重变异中的作用,对肌少症的认识提供新的理论依据。     

云南哈尼族糜蛋白酶基因标签SNPs与原发性高血压的相关性研究

采用聚合酶链式反应-限制性片段长度多态性方法,对692例哈尼族人(高血压患者346例,正常对照个体346例)糜蛋白酶基因(chymase,CMA1)4个tag SNPs (rs1956921、rs1800876、rs5244和rs1885108)的多态性进行检测,并运用遗传模型研究CMA1基因tag SNPs与原发性高血压发生的相关性.结果显示,CMA1基因4个tag SNPs位点在混合人群和女性人群中均未显示出与原发性高血压的相关性;男性人群中,rs1800876位点基因型频率在对照组和高血压间的分布具有统计学意义(P=0.015),Logistic回归分析发现rs1800876位点TC和CC基因型携带者的患病风险显著降低(OR=0.59,95% CI为0.38~0.92,P=0.021),提示CMA1基因rs1800876位点与云南哈尼族男性原发性高血压发生相关.     

KIT基因单核苷酸多态性与四川地区男性不育的相关性研究

基于Luminex平台,应用多重等位基因特异性引物延伸反应（allelespecific primer extension, ASPE), 对130例无精症、严重少精症患者与115例男性可育对照者KIT基因的4个单体型标签SNPs(haplotype tagging SNP):rs3819387、rs3796768、rs2237023、rs12646437的基因型进行检测并做关联分析.结果显示病例组与对照组中rs3819387、rs3796768、rs2237023、rs12646437位点基因型频率分     

SLC11A1基因多态性与新疆喀什地区维吾尔族人群肺结核易感性的相关性研究

为研究探讨新疆喀什地区的维吾尔族肺结核患者及健康对照人群SLC11A1基因多态性与肺结核易感性的相关性。选取维吾尔族总样本人数644人,其中肺结核患者251人,健康对照者393人,提取个体DNA样本,并采用测序的分型方法(SBT),对SLC11A1基因的3个单核苷酸多态位点(rs17235409 GA;rs17235416 TGTG/TGTG--/--;rs3731865 CG)进行检测,统计分析检测的结果,研究SLC11A1基因的多态性与维吾尔族人群肺结核易感性的相关性;比较SNPs在维吾尔族样本人群与已报道的汉族样本人群及哈萨克族样本人群之间基因频率的差异。结果显示:(1)维吾尔族样本病例组中SLC11A1基因rs17235409 GG、GA、AA基因型频率分别为84.9%、13.9%、AA 1.2%;健康对照组中分别为87.3%,12.2%,0.5%,logistic回归检测,各基因型P0.05,无明显统计学差异。病例组中SLC11A1基因rs17235416 TGTG/TGTG、TGTG/-、--/--基因型频率分别为85.5%,13.1%,1.6%;健康对照组中分别为87.0%,12.5%,0.5%,logistic回归检测,各基因型P0.05无明显统计学差异。病例组中SLC11A1基因rs3731865 CC、CG、GG基因型频率分别是2%、21.9%、76.1%;健康对照组中分别是2.3%、24.9%、72.8%,logistic回归检测,各基因型P0.05无明显统计学差异。(2)SLC11A1基因rs17235409在本实验维族样本人群与已报道的汉族样本人群中GG、GA、AA基因型频率分别是86.6%、12.9%、0.8%和77.7%、20.4%、1.9%,X2=9.363,P0.05差异有统计学意义。SLC11A1基因rs17235416在本实验维族样本人群已报道的哈萨克族样本人群中TGTG/TGTG、TGTG/-、--/--基因型频率分别为86.3%、12.7%、0.9%和71.9%、24.5%、3.5%,X2=35.833,P0.05差异有统计学意义。由此可知:(1)本实验维吾尔族人群SLC11A1基因多态性与肺结核易感性不存在相关性。(2)SLC11A1基因多态位点rs17235409rs17235416基因型频率分布在维吾尔族与汉族之间及维吾尔族与哈萨克族之间存在明显差异。     

CD40-1C/T基因多态性与中国汉族人群脑卒中遗传易感性的研究（英文）

脑卒中是老年人口中最常见的疾病之一.CD40受体在抗原呈递和T细胞二次激活中发挥重要作用.本研究评估了中国汉族人群中CD40-1C/T基因多态性与脑卒中及其两种亚型的关联性.研究样本996例,其中包括498例健康对照样本和498例病人样本(338例缺血性脑卒中样本和160例出血性脑卒中样本).对所有样本进行了CD40-1C/T多态性位点分型并统计分析,同时将本研究得出的缺血性脑卒中分析结果跟以往的研究进行荟萃分析.研究发现CD40-1C/T基因多态性与脑卒中、缺血性脑卒中及出血性脑卒中均显著关联,同时荟萃分析也表明缺血性脑卒中与CD40-1C/T基因多态性的关联与以往研究结果一致.本研究的发现表明CD40-1C/T基因多态性是脑卒中及其两种亚型的遗传风险因素.     

基于多色探针熔解曲线分析技术的华法林个体化用药相关基因多态性快速检测方法

华法林是一种广泛使用的抗凝剂,其治疗窗口较窄,患者达到抗凝所需剂量的变异性大.已有研究表明CYP2C9*3 (rs1057910)、CYP2C9IVS3-65GC(rs9332127)、VKORC1 c.-1639GA (rs9923231)和CYP4F2*3 (rs2108622)的单核苷酸多态性(SNPs)是影响中国人群华法林敏感性的主要遗传因素.该研究利用多色探针熔解曲线分析(MMCA)技术,建立可同时检测4个华法林敏感性基因多态性位点的单管PCR反应体系,可在2.5h内完成检测,每个反应能检测低至0.05ng的人基因组DNA.对218份厦门市随机人群的4类SNPs进行筛查及其中40份样本测序的结果表明,MMCA体系准确性高,厦门市人群的4类SNPs发生频率与此前报道的中国汉族人群的相近,其中rs1057910的等位基因A和C的频率分别为96.4%和3.6%,rs9332127的等位基因G和C的频率分别为96.4%和3.6%,rs9923231的等位基因G和A的频率分别为7.8%和92.2%,rs2108622的等位基因G和A的频率分别为75.7%和24.3%.上述基于MMCA技术的SNP分型体系具有快速、简便、准确、低成本等优点,适合在临床上推广用于指导华法林用药剂量.     

EXO1基因单核苷酸多态性与云南汉族人群胃癌的相关性研究

胃癌是一种由基因和环境因素相互作用、在世界范围内最常见的恶性肿瘤之一.该研究用PCR-RFLP的方法,在270名健康对照个体和239名胃癌患者共509人的云南汉族人群中,对核酸外切酶1(exonuclease 1,EXO1)基因rs1635517、rs1776177、rs851797、rs1635498和rs1776148五个单核苷酸多态(single nucleotide polymorphisms,SNPs)位点进行多态检测.结果采用SPSS16.0、PHASE、HaploView4.2软件进行数据统计分析,用Logistic模型在95%置信区间内进行相关性风险度测算.结果显示,位于EXO1基因5UTR的位点rs1635517的CC基因型携带者和C等位基因携带者患胃癌的相对风险度显著升高(p＜0.05),提示该多态位点可能与胃癌发生相关.其余4个位点虽检测到多态,但它们的基因型和等位基因频率在病例和对照中无显著差异,提示这4个位点可能与云南汉族人群的胃癌发生不相关.     

基因单核苷酸多态性与云南汉族人群胃癌的相关性研究

 胃癌是一种由基因和环境因素相互作用、在世界范围内最常见的恶性肿瘤之一.该研究用PCR-RFLP的方法,在270名健康对照个体和239名胃癌患者共509人的云南汉族人群中,对核酸外切酶1(exonuclease 1,EXO1)基因rs1635517、rs1776177、rs851797、rs1635498和rs1776148五个单核苷酸多态（single nucleotide polymorphisms,SNPs）位点进行多态检测.结果采用SPSS16.0、PHASE、HaploView4.2软件进行数据统计分析,用Logistic模型在95%置信区间内进行相关性风险度测算.结果显示,位于EXO1基因5’UTR的位点rs1635517的CC基因型携带者和C等位基因携带者患胃癌的相对风险度显著升高（p＜0.05）,提示该多态位点可能与胃癌发生相关.其余4个位点虽检测到多态,但它们的基因型和等位基因频率在病例和对照中无显著差异,提示这4个位点可能与云南汉族人群的胃癌发生不相关.     

世居不同高海拔藏族EGLN1多态与海拔水平的关联研究

在世居高原藏族人群中探索Egl-9家族同源物1基因(EGLN1)遗传变异与不同的高海拔水平及生理表型的关联.募集178例居住于海拔2 700m个体(LHA组),245例3 700m个体(MHA组),179例4 700m个体(HHA组).分型EGLN1 4个连锁的单核苷酸多态(SNP)rs2790882,rs480902,rs2486736和rs2739513,并进行它们与不同高海拔、肺功能、血氧饱和度(SaO2)的关联分析.4个SNPs的常见等位基因频率均随LHA、MHA、HHA递增(所有P0.05);其单倍域中常见CTCC单倍型频率从LHA的52.5%增加至MHA的59.8%及HHA的62.3%(P=0.001 2).4个SNPs在HHA组SaO2水平随少见纯合子、杂合子和常见纯合子均递增(所有P0.05),且CT/CC携带者的SaO2水平比少见单倍型TC/TT升高了1.6%(P=0.001 5).高原藏族人从海拔2 700m升高到3 700m及4 700mEGLN1基因受到了选择.在极高海拔时,EGLN1基因变异影响SaO2水平.     

牛补体C6基因SNPs与奶牛乳腺炎的关联性

以469头中国荷斯坦奶牛为样本,利用DNA测序及多态性聚合酶链反应(PCR-RFLP)技术等方法检测牛C6基因中单核苷酸多态性(SNP)位点。经序列比对发现4个单核苷酸多态性位点(SNPs):第2外显子上g.+2235GA(G突变为A),第8外显子上g.+32881CA(C突变为A)和g.+32925CT(C突变为T),第17外显子上g.+69060TC(T突变为C)。经SAS软件统计分析发现:g.+32881CA突变的群体,CA基因型的个体体细胞评分显著高于CC基因型的个体(p0.05),且其产奶量显著低于CC个体(p0.05);发生g.+69060TC突变的个体,CC基因型的个体产奶量极显著高于TT基因型个体(p0.01),同时其乳蛋白率显著高于TT基因型个体(p0.05)。     

Investigation of Ru （ phen ）3^2＋-Hydrazine-Ce（Ⅳ） Chemiluminescence System and Its Analytical Application

0 IntroductionThbiep ycroidmipnlee)xru ctahteinoinu mof(Ⅱ r)u t(he Rniuu(mbip,y m)3ai2n +ly) atrnids- t(r2is -,(21’ -,10-phenanthroline)ruthenium(Ⅱ) (Ru(phen)32 +) ,is a kindof sensitive analytical reagent for electrogenerated chemilumi-nescence(ECL) and chemiluminescence(CL) ,on which a par-ticular review has been presented[1]. The earliest publicationon the synthesis of Ru(bipy)32 +appeared in 1936[2], andduringthefollowing30 years ,theinvestigations relatedtothissubstance were only in…     

Electrochemical determination of trace amounts of lead (II) and cadmium (II) at a calix[6]arene modified carbon paste electrode

An electrochemical method for the simultaneous determination of lead(II) and Cadmium(II) with a calix[6]arene modified carbon paste electrode (CPE) has been developed. Pb²⁺ and Cd²⁺ were accumulated at the surface of the modified electrode via formation of chemical complexes with calix[6]arene, and reduced at 1.40 V. During the following anodic potential sweep, reduced lead and cadmium were oxidized, and two well-defined striping peaks appeared at about −0.60 V and −0.84 V. Compared with a bare carbon paste electrode, the calix[6]arene modified CPE greatly improves the sensitivity of determining lead and cadmium. The stripping peak currents change linearly with the concentration of Pb²⁺ 3.0×10⁻⁸–8.0×10⁻⁶ mol·L⁻¹ and with that of Cd²⁺ 6.0×10⁻⁸–1.0×10⁻⁵ mol ·L⁻¹. The detection limits of Pb²⁺ and Cd²⁺ are found to be 8.0×10⁻⁹ mol·L⁻¹ and 2.0×10⁻⁸ mol·L⁻¹, respectively. The modified carbon paste electrode was applied to determine trace levels of lead and cadmium in water samples. Comparing with that of atomic absorption spectrometry, the results suggests that the calix[6]arene modified CPE has great potential for the practical sample analysis. Foundation item: Supported by the National Natural Science Foundation of China (60171023) Biography: JI Xiao-bo (1980-), male, Master, research direction: electroanalytical chemistry.     

Preconcentration of vanadium(V) on crosslinked chitosan and determination by graphite furnace atomic absorption spectrometry

A new method is proposed for the preconcentration of vanadium(V) with crosslinked chitosan (CCTS) and determination by graphite furnace atomic absorption spectrometry (GFAAS). The adsorption rate of vanadium(V) by CCTS was 97% at pH 4.0, and vanadium(V) was eluted from crosslinked chitosan with 2 mL 2.0 mol·L⁻¹ chlorhydric acid and determined by GFAAS. The detection limit (3σ,n=7) for vanadium (V) was 4.8×10⁻¹²g and the relative standard deviation (R.S.D) at concentration level of 2.6 μg·L⁻¹ is less than 3.6%. The method shows a good selectivity and high sensity, and it was applied to determination of vanadium(V) in oyster and water samples. The analytic recoveries are (97±5)%. Biography: Wu Wei (1975-), female, Master candidate, research direction: environmental & analytical chemistry.     

Chemiluminescence determination of tetracycline and oxytetracycline in pharmaceutical preparations using Ru (bipy)3 2+-cerium (IV) system

A new chemiluminescence (CL) method for the determination of tetracycline and oxytetracycline is developed, based on the CL reaction of tetracycline and oxytetracycline with Ru (bipy)₃ ²⁺ and Ce (IV). In sulfuric acid medium, the CL emission is generated upon continuous oxidtion of Ru(bipy)₃ ²⁺ by cerium (IV). The emission intensity is greatly enhanced when tetracycline and oxytetracycline are introduced into the reaction system after acid degradation. Under the optimum conditions, the calibration curves are linear over the range of 8.0×10⁻⁸∼4.0×10⁻⁶ mol/L for tetracycline and of 2.0×10⁻⁷∼4.0×10⁻⁵ mol/L for oxytetracycline, with the detection limits are 4.2×10⁻⁸ mol/L for tetracycline and 1.5×10⁻⁷ mol/L for oxytetracycline, respectively. The proposed method was used for the determination of tetracycline and oxytetracycline in pharmaceutical formulations with good results. Foundation item: Supported by the National Natural Science Foundation of China and the Natural Science Foundation of Hubei Province. Biography: HAH He-you (1962), male, Associate profeddor, Ph.D graduate candidate. Present address, Department of Chemistry, Huainan Teacher's College, Huainan.     

恭城沙田柚果实品质与土壤环境化学的研究

在恭城县城选择三不同情况的沙田柚环境（挂果好，当年产３００多个，挂果一般，当年产５０个，从不挂果，树龄已有８年，结果无望）采样，分析土壤，果实，树枝叶的常量元素和微量元素，结果表明，恭城沙田柚全糖含量平均值达１０％以上，可溶性固形物含量达１７％，柠檬酸０．３１％，糖酸比和固酸比多在３０以上。品质优的沙田柚生长的土壤Ｋ２Ｏ，Ｐ２Ｏ５含量分别为１．８００３％～２．２１２５％和０．１５２４％～０．１８１     

Organic media enhanced spectrofluorimetric determination of L-ascorbic acid

A novel spectrofluorimetric method for the determination of L-ascorbic acid is proposed. It is based on the inhibition of L-ascorbic acid on the formation of 2,3-diaminophenazine, which is an oxidation product ofo-phenylenediamine catalyzed by laccase. The fluorescence (at λ_cx/λ_cm=464 nm /530 nnm) was enhanced strongly in the presence of organic media. The mechanism ofo-phenylenediamine oxidation reaction catalyzed by laccase in the presence of L-ascorbic acid is discussed. L-ascorbic acid is determined in the ethanol, 1,4-dioxane and acetone over the linear range of 4.0×10⁻⁷≈1.2×10⁻⁴ mol/L, 4.0×10⁻⁷≈8.0×10⁻⁵ mol/L and 4.0×10⁻⁷≈1.0×10⁻⁴ mol/L with a detection limit of 1.20×10⁻⁵ mol/L, 1.19×10⁻⁵ mol/L and 1.24×10⁻⁸ mol/L, respectively. The method has been successfully applied to the simple and rapid determination of L-ascorbic acid in pharmaceuticals and milk powder. Supported by National Natural Science Foundation of China and the Special Funds of State Education Committe for Doctorate Research Huang Zuyun: born in Aug. 1963. Ph.D     

电力输电杆塔用Q235钢聚硅氧烷复合涂层的大气腐蚀行为

采用喷涂法在Q235钢表面涂覆聚硅氧烷复合涂层,在重工业污染区、人口密集区、一般工业区、乡村定居区4个220kV变电站大气环境中自然暴露15个月,采用伏安法、交流阻抗法等研究其腐蚀行为。结果表明,重工业污染区变电站的腐蚀电流密度从3.849 5×10~(-12) A/cm~2增加到15个月的2.257 2×10~(-10) A/cm~2;而人口密集区变电站的腐蚀电流密度值先从1.640 1×10~(-10) A/cm~2降低到6个月的5.736 5×10~(-11) A/cm~2,后增加到15个月的3.929 9×10~(-10) A/cm~2。结合自腐蚀电位和涂层阻抗,聚硅氧烷复合涂层在不同环境中耐蚀性顺序为:人口密集区乡村定居区一般工业区重工业污染区。     

基于植酸锆/普鲁士蓝复合膜的电催化行为研究

通过层层自组装技术,构建植酸锆/普鲁士蓝(Zr-IP_6/PB)多层结构膜.基于普鲁士蓝(PB)对双氧水(H_2O_2)有很高的电催化性能,加之5层植酸锆/普鲁士蓝膜多孔结构有利于传质过程,该H_2O_2传感器具有高灵敏度和高选择性.实验结果显示:修饰电极对H_2O_2响应的物质的量浓度范围为2.00×10~(-5)～1.76×10~(-3) mol·L~(-1),线性相关系数R=0.998 9.     

季铵盐改性MWNTs制备具有抗菌性和自清洁性的PVDF超滤膜

叔铵盐2-二甲氨基氯乙烷盐酸盐(DCH)作为季铵盐的前驱体,通过环氧氯丙烷接枝到氧化多壁碳纳米管(O-MWNTs)上,得到的季铵盐改性多壁碳纳米管(MWNTs)(即N~+-MWNTs)作为添加剂加入铸膜液制备聚偏氟乙烯(PVDF)平板超滤膜(PVDF/N~+-MWNTs膜).场发射扫描电子显微镜(FESEM)用来观测不同的N~+-MWNTs添加量对膜形貌的影响.结果表明,制得的PVDF/N~+-MWNTs复合膜表面粗糙度明显减小,同时亲水性得到明显改善.在对牛血清白蛋白(BSA)的污染-清洗循环实验中,PVDF/N~+-MWNTs复合膜相比于纯PVDF膜,纯水通量由110.5×10~(-5)L·m~(-2)·h~(-1)·Pa~(-1)上升至197.4×10~(-5)L·m~(-2)·h~(-1)·Pa~(-1).此外,通量恢复率(FRR)明显提高,尤其在3次循环之后,对BSA的截留性能没有下降.在对大肠杆菌和金黄色葡萄球菌的抗菌实验中,PVDF/N~+-MWNTs复合膜展现出优异的抑菌性,且在膜的抗菌性再生循环中,3次循环之后PVDF/N+-MWNTs复合膜的抑菌率依然维持在较高的水平.