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华南地区汉族人群MDR1基因单核苷酸多态性研究   总被引:2,自引:0,他引:2       下载免费PDF全文
 多药耐药基因1(MDR1)单核苷酸多态性(SNP)与疾病的易感性、药物治疗效果以及患者的生存复发等预后密切相关。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和聚合酶链反应-单链构象多态性(PCR-SSCP)方法,对华南地区无亲缘关系的汉族人群MDR1基因编码区及部分启动子区进行SNP筛查,并比较不同人种间等位基因频率的差异。结果共检测出5个多态位点:T-2410C、T-129C、C1236T、G2677T/A和C3435T,其等位基因频率-2410C为4.65%,-129C为3.11%,1236T为63.31%,2677T为44.66%,2677A为14.47%,3435T为41.18%。除T-2410C位点因报道的太少无法比较外,其余位点等位基因频率在东亚、高加索以及非洲人群中的分布存在显著差异。该研究为进一步研究华南地区汉族人群MDR1基因SNP与药物效果、药物毒副作用以及疾病易感性之间的相关性提供依据。  相似文献
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单核苷酸多态性及其在作物遗传育种中的应用   总被引:2,自引:0,他引:2  
单核苷酸多态性(simple nucleotide polym orphism,SNP)是等位基因间序列差异最为普遍的类型,可以作为一种高通量的分子标记.本文主要介绍SNP的定义、几种植物学中常用的检测SNP方法及SNP标记在作物遗传育种中的应用.  相似文献
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 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.  相似文献
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目的 建立犬毛色基因MC1R R306ter (c.C916T)与TYRP1 Q331ter (c.C991T) SNP位点的检测方法.方法 采用PCR/测序的方法,对19只拉布拉多犬和15只金毛猎犬的MC1R基因c.C916T SNP位点及TYRP1基因c.C991T SNP位点的多态性进行检测,根据MC1R和TYRP1的多态性对犬的毛色基因型进行分析.结果 PCR/测序法能够对TYRP1基因c.C991T SNP位点进行明确和有效的检测.但MC1R基因c.C916T SNP位点的测序结果出现了特殊峰,经克隆/测序法确认该特殊峰型为杂合性SNP位点.毛色基因型分析表明,金毛猎犬的毛色基因型皆为纯合的eeBB(15只),未见其他基因型.拉布拉多犬的毛色基因型分别为:黑色犬EeBB(6只)、EeBb(2只);黄色犬eeBB(9只)、eeBb(2只).未发现其他如EEBB和EEBb(黑色)、eebb(黄色)的毛色基因型.另外,拉布拉多犬样本中没有巧克力色犬,也未检测出其相应的Eebb和EEbb基因型.结论 本研究成功建立了犬毛色基因MC1R R306ter(c.C916T)与TYRP1 Q331ter (c.C991T) SNP位点的检测方法,为分析毛色基因型与导盲犬培训成功率之间的相关性提供了前期工作基础.  相似文献
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目的研究IL-23R基因rs7517847位点的单核苷酸多态性与强直性脊柱炎易感性的关系.方法采用PCRRFLP方法对100例强直性脊柱炎患者进行IL-23R基因多态性检测,并与35例健康者对照分析.结果 rs7517847位点各基因型频率和等位基因频率在AS组与对照组之间的分布差异均具有统计学意义(P0.05);并在假设遗传方式下,rs7517847位点的纯合突变GG基因型与(TG+TT)基因型比较,其频率分布差异在AS组与对照组之间也具有统计学意义(P0.05).结论 IL-23R基因rs7517847位点的多态性与吉林地区人群AS易感性有关;携带G等位基因且为GG基因型的个体患AS的危险性增大,这可能是患AS的易感因素之一.  相似文献
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讨论了基质金属蛋白酶3(MMP3)基因单核苷酸多态性(SNP)与湖北省武汉市人群乳腺癌易感性的关联关系.选择MMP3基因2号外显子Lys45Glu单核苷酸多态性rs679620作为研究对象,采用聚合酶链式反应限制性片段长度多态性分析方法(PCR-RFLP)对195例散发乳腺癌病人和289例正常人群进行了病例-对照分析,运用SHEsis软件和SPSS软件分别计算Hardy-Weinberg数值以及对基因分型数据进行统计分析后表明:MMP3 rs679620(A/G)单核苷酸多态性各个基因型在病例组和对照组分布符合Hardy-Weinberg平衡,A等位基因在病例组中频率(P=0.331)小于对照组(P=0.360),可能为保护因素,但病例和对照的差异不具有统计学意义.在中国武汉地区汉族女性中,MMP3多态性与乳腺癌没有明显关联,但呈现一定的趋势,需加大样本量和增加考察的SNP数量进行深入研究.  相似文献
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目的:探讨CD14基因rs2569190位点的单核苷酸多态性与强直性脊柱炎易感性的关系.方法采用PCR-RFLP方法对240例AS患者进行CD14基因多态性检测,并与140名健康对照者进行对比.结果 rs2569190位点基因型频率两组间差异具有统计学意义(χ2=6.778,υ=2,P<0.05);强直性脊柱炎组携带突变体A基因的频率高于对照组,差异具有统计学意义(χ2=3.876,υ=1,P<0.05).结论 CD14基因rs2569190位点单核苷酸多态性与强直性脊柱炎易感性存在关联,携带CD14突变体A基因者患AS风险较大.  相似文献
8.
Genome-Wide Association Studies(GWASs) aim to identify genetic variants that are associated with disease by assaying and analyzing hundreds of thousands of Single Nucleotide Polymorphisms(SNPs). Although traditional single-locus statistical approaches have been standardized and led to many interesting findings, a substantial number of recent GWASs indicate that for most disorders, the individual SNPs explain only a small fraction of the genetic causes. Consequently, exploring multi-SNPs interactions in the hope of discovering more significant associations has attracted more attentions. Due to the huge search space for complicated multilocus interactions, many fast and effective methods have recently been proposed for detecting disease-associated epistatic interactions using GWAS data. In this paper, we provide a critical review and comparison of eight popular methods, i.e., BOOST, TEAM, epi Forest, EDCF, SNPHarvester, epi MODE, MECPM, and MIC, which are used for detecting gene-gene interactions among genetic loci. In views of the assumption model on the data and searching strategies, we divide the methods into seven categories. Moreover, the evaluation methodologies,including detecting powers, disease models for simulation, resources of real GWAS data, and the control of false discover rate, are elaborated as references for new approach developers. At the end of the paper, we summarize the methods and discuss the future directions in genome-wide association studies for detecting epistatic interactions.  相似文献
9.
To overcome the obstacle of the fascinating relation in predicting animal phenotype value, we have developed a neural network model to detect the complex non-linear relationships between the genotypes and phenotypes and the possible interactions that cannot be expressed with equations. In this paper, back-propagation neural network is used to discuss the influences of different allele frequencies on estimating the polygenic phenotype value. To ensure the precision of prediction, normalization was needed to train the prediction model. The results show that back-propagation artificial neural networks can be used to predict the phenotype value and perform very well in allele frequency from 0.2 to 0.8, when the allele frequency is very small (less than 0.2) or big (more than 0.8); however, the prediction model was not reliable and the predicted value should be carefully tested.  相似文献
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We extract some physical and chemical features re-lated to the occurrence of single nucleotide polymorphism (SNP) from three groups of sliding windows around SNP site,and then make the predictions about accuracy by using radial basis function (RBF) networks. The result of the forward sliding windows sug-gests that the accuracies and Matthews correlation coefficient (MCC values) ascend with the increasing of length of sliding windows. The accuracies range from 73.27 % to 80.69 %,and MCC values range from 0.465 to 0.614. The backward sliding windows and the sliding windows with fixed length three are de-signed to find the crucial sites related to SNP. The results imply that the occurrence possibility of SNP relies heavily on the above physical and chemical features of sites which are at a distance around 20 bases from the SNP site. Compared with the support vector machine (SVM),our RBF network approach has achieved more satisfactory results.  相似文献
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