BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify th...BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics.展开更多
目的:探讨电压门控钾通道亚家族G成员1(potassium voltage-gated channel subfamily G member 1,KCNG1)在人肺癌组织中的表达水平和临床意义以及其在肺癌细胞恶性生物学行为中的作用。方法:通过TCGA数据库(The Cancer Genome Atlas)分析...目的:探讨电压门控钾通道亚家族G成员1(potassium voltage-gated channel subfamily G member 1,KCNG1)在人肺癌组织中的表达水平和临床意义以及其在肺癌细胞恶性生物学行为中的作用。方法:通过TCGA数据库(The Cancer Genome Atlas)分析KCNG1 mRNA在人肺癌组织中的表达水平,探究其与肺癌患者临床病理特征及预后的关系;基于KCNG1 mRNA表达水平构建预测肺癌患者预后的列线图模型;采用基因本体(GO)功能富集分析和京都基因与基因组百科全书通路(KEGG)富集分析探究KCNG1潜在的生物学功能;采用基因集富集分析(GSEA)预测KCNG1相关差异表达基因参与调控的相关信号通路。采用实时荧光定量PCR(qRT-PCR)及蛋白免疫印迹分别检测肺癌A549和H1299细胞系以及正常肺上皮细胞中KCNG1 mRNA和蛋白表达水平;通过转染siRNA构建KCNG1敲减的细胞株,分别采用EdU,Transwell,Matrigel Transwell,细胞划痕愈合及血管生成拟态实验检测细胞株生物学行为变化。结果:KCNG1 mRNA在肺癌组织中显著高表达且与肺癌患者不良预后密切相关(P均<0.05);列线图模型初步证实KCNG1可能是肺癌潜在的生物标志物,并具有良好的预后评价功能;GO及KEGG富集分析提示KCNG1在调节激素分泌、离子转运、神经肽信号通路及细胞间黏附等生物学过程中发挥重要作用;GSEA结果提示KCNG1相关差异表达基因主要富集在KRAS,MTORC1,MYC,P53及WNT信号通路;KCNG1敲低的肺癌细胞增殖、迁移、侵袭和成管能力明显受到抑制(P均<0.05)。结论:KCNG1 mRNA在肺癌中显著高表达且与患者不良预后密切相关;siRNA介导的KCNG1敲低可显著抑制肺癌细胞的恶性生长。展开更多
BACKGROUND： The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is he...BACKGROUND： The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is helpful to develop researches on the genetics of various diseases including hypertension in Mongolian population. OBJECTIVE： To analyze the association between the polymorphism of beta1 adrenergic receptor （β1-AR） gene G1165C （Arg389Gly）, an important candidate gene for various diseases of cardiovascular system, and essential hypertension in Mongolian population. DESIGN ： A cross-sectional study SETTINGS： Department of Neurology, the First Affiliated Hospital of Inner Mongolia Medical College; Wulate Houqi Red Cross Society. PARTICIPANTS： The survey was carried out from February 2003 to March 2005. Totally 239 Mongolian residents, whose blood relations of 3 generations were all Mongolians, were selected from Wulate Houqi, Inner Mongolia, and they were all informed with the survey and detected items. Based on the diagnostic standard of hypertension set by WHO in 1999, the subjects were divided into two groups according to the level blood pressure： ① Normal blood pressure group （n=117）： systolic blood pressure （SBP） 〈 140 mm Hg （1 mm Hg =0.133 kPa）, diastolic blood pressure （DBP） 〈 90 mm Hg, and those having histories of cerebrovascular disease, heart disease, diseases of liver, kidney and tiroides, and diabetes mellitus were excluded. ② Essential hypertension group （n=122）： including 51 patients with simple high SBP. All the enrolled subjects had no blood relationship with each other, and had no history of miscegenation. METHODS ： The body height, body mass, waist circumference and blood lipids were measured routinely, and their habits of smoking and drinking were also investigated. Penpheral venous blood （5 mL） was drawn, the genome DNA was extracted, and the polymorphisms of the β1-AR Gl165C （Gly389Arg） genotype were detected with the Sequenom system. Polymerase chain reaction （PCR） experiment and SNP detection were performed in Huada Gene Laboratory of Bejing, then the univariate analysis of variance was applied in the sample comparison among groups, and the chi-square test was used to compare the genotypes and allele frequencies. The odd ratio （OR） and 95% confidence interval （CO were calculated. MAIN OUTCOME MEASURES： The distributions of β1-AR Gl165C （Gly389Arg） genotypes and alleles were observed. RESULTS： A11 the 239 subjects were involved in the analysis of results, and no one missed, ①Comparison of β1-AR G1165C （Gly389Arg） genotypes and allele distnbutions： In Mongolian population, the frequencies of CC and GG＋GC genotypes at β1-AR G1165C （Gly389Arg） site in the essential hypertension group （72%, 28%） were not significantly different from those in the normal blood pressure group （67%, 33%） （xz=0.841, P=-0.359; OR 0.773, 95%Cl： 0.445-1.342）; The frequencies of C and G alleles also had no significant differences between the essential hypertension group （85%, 15%） and the normal blood pressure group （82%, 18%） （x^2=1.136, P=-0.287; OR： 0.769, 95%Cl： 0.747-1.248）. ②The frequencies of CC and GG＋GC genotypes at β1-AR G1165C （Gly389Arg） site had no significant differences between the patients with simple high SBP （71%, 29%） and the normal blood pressure group （x^2=0.250, P=-0.617; OR： 0.833, 95%C/： 0.408-1.703）; The frequencies of C and G alleles were not significantly different between the patients with simple high SBP （86%, 14%） and the normal blood pressure group （x^2=0.670, P=-0.413; OR 0.766, 95%Cl： 0.404-1.453）. CONCLUSION： In Mongolian population, the distributions of the genotypes and alleles of β1-AR Gl165C （Gly389Arg） have no obvious differences between the subjects with normal blood pressure and the patients with essential hypertension （including simple SBP increase）, which suggests that G1165C （Glu389Asp） site of β1-AR gene may be not a genetic mark of essential hypertension and simple high SBP in Mongolian population.展开更多
AIM： To test the hypothesis that the variant UDP- glucuronosyltransferase 1A1 （UGT1A1） gene, glucose-6- phosphate dehydrogenase （G6PD） deficiency, and thalassemia influence bilirubin metabolism and play a role in...AIM： To test the hypothesis that the variant UDP- glucuronosyltransferase 1A1 （UGT1A1） gene, glucose-6- phosphate dehydrogenase （G6PD） deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS： A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS： Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A（TA）6 TAA/A（TA）TTAA （6/7）, heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene （P = 0.012, Z2 test）, but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia （2.7% vs 2.4% and 5.1% vs 5.1%, respectively）. The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog （18.0±6.5 and 12.7±2.9 μmol/L, respectively; P〈0.001, Student＇s ttest）.CONCLUSION： Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese. 2005 The WJG Press and Elsevier Inc. All rights reserved展开更多
Objective:To conduct a comparative analysis of the VP4 gene sequences of Indian wild type (06361,0613158,061060 and 0715880) and cell culture adapted(06361-CA,0613158-CA.061060- CA and 0715880-CA) G1P[8]rotavirus stra...Objective:To conduct a comparative analysis of the VP4 gene sequences of Indian wild type (06361,0613158,061060 and 0715880) and cell culture adapted(06361-CA,0613158-CA.061060- CA and 0715880-CA) G1P[8]rotavirus strains.Methods:Full-length VP4 genes of each of the four wild type G1P[8]rotavirus strains and their cell culture adapted counterparts displaying consistent cytopathic effect were subjected to RT-PCR amplification and nucleotide sequencing. Results:All four cell culture adapted G1P[8]rotavirus strains showed nucleotide and amino acid substitutions in the VP4 gene as compared to their wild type strains.The number of substitutions however,varied from 1-64 and 1-13 respectively.The substitutions were distributed in both VP5* and VP8* subunits of VP4 gene respectively of permeabilizalion and hemagglutinaling activity. The presence of unique amino acid substitutions was identified in two of the four wild type(V377G. S387N in 061060 and 1644L in 0715880) and all four cell culture adapted(A46V in 0613158-CA. T60R in 06361-CA,L237V.G389V and Q480H in 061060-CA and S615G and T625P in 0715880-CA) strains for the first time in the VP4 gene of P[8]specificity.Amino acid substitutions generated increase in the hydrophilicity in the cell culture adapted rotavirus strains as compared to their corresponding wild type strains.Conclusions:Amino acid substitutions detected in the VP4 genes of G1P[8]rotavirus strains from this study together with those from other studies highlight occurrence of only strain and/or host specific substitutions during cell culture adaptation. Further evaluation of such substitutions for their role in attenuation,immunogenicity and conformation is needed for the development of newer rolavirus vaccines.展开更多
Background and Objectives: The cornerstone of the regulation fibrinolytic system is plasminogen activator inhibitor type-1. The 4G/5G polymorphism in the PAI-1 gene is a key genetic predictor of increased plasma level...Background and Objectives: The cornerstone of the regulation fibrinolytic system is plasminogen activator inhibitor type-1. The 4G/5G polymorphism in the PAI-1 gene is a key genetic predictor of increased plasma levels which is the most polymorphism associated with cardiovascular complications. The 4G carriers have six times higher PAI-1 levels than 5G carriers leading to an increase in the level of plasma inhibitor by about 25% more than 5G allele (wide type). Type 2 diabetes presents symptoms of hypercoagulability and hypofibrinolytic system that lead to contribute in the atherothrombosis and then the myocardial infarction (MI). These findings supported the hypothesis that there is a link between diabetes patients and this SNP. There is no data about the prevalence of this allele in Sudanese diabetic patients with type 2 and the allele differs in prevalence according to ethnicity, for these reasons, the aim of this study was to determine the allele and genotype frequency of the rs1799889 among Sudanese T2DM patients. Methods: A case-control study was conducted using 70 diagnosed diabetes type 2 patients and 50 healthy individuals as the control group. AS-PCR technique was used to genotype the rs1799889, and the allelic frequency was calculated according to Hardy-Weinberg equilibrium. Allelic frequencies were assessed using gene counting (SNP-STAT software V. Release 3.13), and genotypes were scored. Results: The result showed that 4G allele frequency was 28% among Sudanese diabetic patients without statistical difference when compared with control group (P-value = 0.998) but, high when compared with other studies in African population 13% and very low when compared with white and Indian populations studies. Conclusion: By this study, the allele frequency was higher in Sudanese diabetic patients with type 2, and also we need another study to evaluate the effect of this polymorphism in thrombophilic complications in Sudanese diabetic patients with type 2.展开更多
以2个芹菜(Apium graveolens)品种‘津南实芹’和‘美国西芹’为试验材料,分别克隆出过敏原蛋白Api g 1基因。序列分析表明,‘津南实芹’和‘美国西芹’中的过敏原蛋白基因Api g 1均含有1个480 bp的开放阅读框及1个148 bp的内含子,分别...以2个芹菜(Apium graveolens)品种‘津南实芹’和‘美国西芹’为试验材料,分别克隆出过敏原蛋白Api g 1基因。序列分析表明,‘津南实芹’和‘美国西芹’中的过敏原蛋白基因Api g 1均含有1个480 bp的开放阅读框及1个148 bp的内含子,分别编码159个氨基酸,二者有2个核苷酸位点的差异,编码的氨基酸有1个位点差异。‘津南实芹’和‘美国西芹’的过敏原蛋白Api g 1与胡萝卜、欧芹等植物的过敏原蛋白相似度较高,在保守区域有7个甘氨酸残基,空间结构上由3个螺旋和7个折叠组成。实时定量PCR表达分析显示,该基因在主根中表达较高,茎其次,其他部位表达较弱,具有明显的组织特异性。展开更多
核仁G蛋白1(Nucleolar G protein 1,NOG1)是一种高度保守的核仁GTP酶,在真核生物中广泛存在,参与60 S核糖体亚基前体的组装。在线虫中敲减NOG1的表达造成生长缓慢、虫体变小和寿命延长的表型,而过量表达NOG1则使线虫的寿命缩短。拟南芥...核仁G蛋白1(Nucleolar G protein 1,NOG1)是一种高度保守的核仁GTP酶,在真核生物中广泛存在,参与60 S核糖体亚基前体的组装。在线虫中敲减NOG1的表达造成生长缓慢、虫体变小和寿命延长的表型,而过量表达NOG1则使线虫的寿命缩短。拟南芥的At1g10300基因注释为NOG1-2,但是其生物学功能还有待研究。该研究对其功能进行了初步研究,首先检测了该基因在拟南芥各个器官的表达情况。结果表明:该基因在7 d龄幼苗、茎生叶和花中均有表达,其中在花中表达量最高。获得了At1g10300基因的T-DNA插入突变体,发现在长日照条件下,At1g10300突变体植株的莲座紧凑,莲座叶片长宽比降低,但叶面积和植株高度与野生型相比无显著差异,表明其叶形发生改变;突变体植株的抽薹时间晚于野生型。荧光定量RT-PCR结果表明,突变体植株中开花促进因子FT、CO和GI的表达水平下调,而开花抑制因子FLC的表达水平上调。以上结果揭示At1g10300基因的突变影响了FT、CO、GI及FLC基因的表达,使植株出现晚花表型。展开更多
文摘BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics.
基金a grant from theGreat Program of Inner Mongo-lia Medical College, No.NY2004ZD006
文摘BACKGROUND： The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is helpful to develop researches on the genetics of various diseases including hypertension in Mongolian population. OBJECTIVE： To analyze the association between the polymorphism of beta1 adrenergic receptor （β1-AR） gene G1165C （Arg389Gly）, an important candidate gene for various diseases of cardiovascular system, and essential hypertension in Mongolian population. DESIGN ： A cross-sectional study SETTINGS： Department of Neurology, the First Affiliated Hospital of Inner Mongolia Medical College; Wulate Houqi Red Cross Society. PARTICIPANTS： The survey was carried out from February 2003 to March 2005. Totally 239 Mongolian residents, whose blood relations of 3 generations were all Mongolians, were selected from Wulate Houqi, Inner Mongolia, and they were all informed with the survey and detected items. Based on the diagnostic standard of hypertension set by WHO in 1999, the subjects were divided into two groups according to the level blood pressure： ① Normal blood pressure group （n=117）： systolic blood pressure （SBP） 〈 140 mm Hg （1 mm Hg =0.133 kPa）, diastolic blood pressure （DBP） 〈 90 mm Hg, and those having histories of cerebrovascular disease, heart disease, diseases of liver, kidney and tiroides, and diabetes mellitus were excluded. ② Essential hypertension group （n=122）： including 51 patients with simple high SBP. All the enrolled subjects had no blood relationship with each other, and had no history of miscegenation. METHODS ： The body height, body mass, waist circumference and blood lipids were measured routinely, and their habits of smoking and drinking were also investigated. Penpheral venous blood （5 mL） was drawn, the genome DNA was extracted, and the polymorphisms of the β1-AR Gl165C （Gly389Arg） genotype were detected with the Sequenom system. Polymerase chain reaction （PCR） experiment and SNP detection were performed in Huada Gene Laboratory of Bejing, then the univariate analysis of variance was applied in the sample comparison among groups, and the chi-square test was used to compare the genotypes and allele frequencies. The odd ratio （OR） and 95% confidence interval （CO were calculated. MAIN OUTCOME MEASURES： The distributions of β1-AR Gl165C （Gly389Arg） genotypes and alleles were observed. RESULTS： A11 the 239 subjects were involved in the analysis of results, and no one missed, ①Comparison of β1-AR G1165C （Gly389Arg） genotypes and allele distnbutions： In Mongolian population, the frequencies of CC and GG＋GC genotypes at β1-AR G1165C （Gly389Arg） site in the essential hypertension group （72%, 28%） were not significantly different from those in the normal blood pressure group （67%, 33%） （xz=0.841, P=-0.359; OR 0.773, 95%Cl： 0.445-1.342）; The frequencies of C and G alleles also had no significant differences between the essential hypertension group （85%, 15%） and the normal blood pressure group （82%, 18%） （x^2=1.136, P=-0.287; OR： 0.769, 95%Cl： 0.747-1.248）. ②The frequencies of CC and GG＋GC genotypes at β1-AR G1165C （Gly389Arg） site had no significant differences between the patients with simple high SBP （71%, 29%） and the normal blood pressure group （x^2=0.250, P=-0.617; OR： 0.833, 95%C/： 0.408-1.703）; The frequencies of C and G alleles were not significantly different between the patients with simple high SBP （86%, 14%） and the normal blood pressure group （x^2=0.670, P=-0.413; OR 0.766, 95%Cl： 0.404-1.453）. CONCLUSION： In Mongolian population, the distributions of the genotypes and alleles of β1-AR Gl165C （Gly389Arg） have no obvious differences between the subjects with normal blood pressure and the patients with essential hypertension （including simple SBP increase）, which suggests that G1165C （Glu389Asp） site of β1-AR gene may be not a genetic mark of essential hypertension and simple high SBP in Mongolian population.
基金Supported by a grant from the Cathay Medical Research Center, Taipei, Taiwan, China
文摘AIM： To test the hypothesis that the variant UDP- glucuronosyltransferase 1A1 （UGT1A1） gene, glucose-6- phosphate dehydrogenase （G6PD） deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS： A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS： Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A（TA）6 TAA/A（TA）TTAA （6/7）, heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene （P = 0.012, Z2 test）, but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia （2.7% vs 2.4% and 5.1% vs 5.1%, respectively）. The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog （18.0±6.5 and 12.7±2.9 μmol/L, respectively; P〈0.001, Student＇s ttest）.CONCLUSION： Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese. 2005 The WJG Press and Elsevier Inc. All rights reserved
基金supported by National Institute of Virology(NIV,Indian Council of Medical Research, Govt.of India),Pune
文摘Objective:To conduct a comparative analysis of the VP4 gene sequences of Indian wild type (06361,0613158,061060 and 0715880) and cell culture adapted(06361-CA,0613158-CA.061060- CA and 0715880-CA) G1P[8]rotavirus strains.Methods:Full-length VP4 genes of each of the four wild type G1P[8]rotavirus strains and their cell culture adapted counterparts displaying consistent cytopathic effect were subjected to RT-PCR amplification and nucleotide sequencing. Results:All four cell culture adapted G1P[8]rotavirus strains showed nucleotide and amino acid substitutions in the VP4 gene as compared to their wild type strains.The number of substitutions however,varied from 1-64 and 1-13 respectively.The substitutions were distributed in both VP5* and VP8* subunits of VP4 gene respectively of permeabilizalion and hemagglutinaling activity. The presence of unique amino acid substitutions was identified in two of the four wild type(V377G. S387N in 061060 and 1644L in 0715880) and all four cell culture adapted(A46V in 0613158-CA. T60R in 06361-CA,L237V.G389V and Q480H in 061060-CA and S615G and T625P in 0715880-CA) strains for the first time in the VP4 gene of P[8]specificity.Amino acid substitutions generated increase in the hydrophilicity in the cell culture adapted rotavirus strains as compared to their corresponding wild type strains.Conclusions:Amino acid substitutions detected in the VP4 genes of G1P[8]rotavirus strains from this study together with those from other studies highlight occurrence of only strain and/or host specific substitutions during cell culture adaptation. Further evaluation of such substitutions for their role in attenuation,immunogenicity and conformation is needed for the development of newer rolavirus vaccines.
文摘Background and Objectives: The cornerstone of the regulation fibrinolytic system is plasminogen activator inhibitor type-1. The 4G/5G polymorphism in the PAI-1 gene is a key genetic predictor of increased plasma levels which is the most polymorphism associated with cardiovascular complications. The 4G carriers have six times higher PAI-1 levels than 5G carriers leading to an increase in the level of plasma inhibitor by about 25% more than 5G allele (wide type). Type 2 diabetes presents symptoms of hypercoagulability and hypofibrinolytic system that lead to contribute in the atherothrombosis and then the myocardial infarction (MI). These findings supported the hypothesis that there is a link between diabetes patients and this SNP. There is no data about the prevalence of this allele in Sudanese diabetic patients with type 2 and the allele differs in prevalence according to ethnicity, for these reasons, the aim of this study was to determine the allele and genotype frequency of the rs1799889 among Sudanese T2DM patients. Methods: A case-control study was conducted using 70 diagnosed diabetes type 2 patients and 50 healthy individuals as the control group. AS-PCR technique was used to genotype the rs1799889, and the allelic frequency was calculated according to Hardy-Weinberg equilibrium. Allelic frequencies were assessed using gene counting (SNP-STAT software V. Release 3.13), and genotypes were scored. Results: The result showed that 4G allele frequency was 28% among Sudanese diabetic patients without statistical difference when compared with control group (P-value = 0.998) but, high when compared with other studies in African population 13% and very low when compared with white and Indian populations studies. Conclusion: By this study, the allele frequency was higher in Sudanese diabetic patients with type 2, and also we need another study to evaluate the effect of this polymorphism in thrombophilic complications in Sudanese diabetic patients with type 2.
文摘以2个芹菜(Apium graveolens)品种‘津南实芹’和‘美国西芹’为试验材料,分别克隆出过敏原蛋白Api g 1基因。序列分析表明,‘津南实芹’和‘美国西芹’中的过敏原蛋白基因Api g 1均含有1个480 bp的开放阅读框及1个148 bp的内含子,分别编码159个氨基酸,二者有2个核苷酸位点的差异,编码的氨基酸有1个位点差异。‘津南实芹’和‘美国西芹’的过敏原蛋白Api g 1与胡萝卜、欧芹等植物的过敏原蛋白相似度较高,在保守区域有7个甘氨酸残基,空间结构上由3个螺旋和7个折叠组成。实时定量PCR表达分析显示,该基因在主根中表达较高,茎其次,其他部位表达较弱,具有明显的组织特异性。
文摘核仁G蛋白1(Nucleolar G protein 1,NOG1)是一种高度保守的核仁GTP酶,在真核生物中广泛存在,参与60 S核糖体亚基前体的组装。在线虫中敲减NOG1的表达造成生长缓慢、虫体变小和寿命延长的表型,而过量表达NOG1则使线虫的寿命缩短。拟南芥的At1g10300基因注释为NOG1-2,但是其生物学功能还有待研究。该研究对其功能进行了初步研究,首先检测了该基因在拟南芥各个器官的表达情况。结果表明:该基因在7 d龄幼苗、茎生叶和花中均有表达,其中在花中表达量最高。获得了At1g10300基因的T-DNA插入突变体,发现在长日照条件下,At1g10300突变体植株的莲座紧凑,莲座叶片长宽比降低,但叶面积和植株高度与野生型相比无显著差异,表明其叶形发生改变;突变体植株的抽薹时间晚于野生型。荧光定量RT-PCR结果表明,突变体植株中开花促进因子FT、CO和GI的表达水平下调,而开花抑制因子FLC的表达水平上调。以上结果揭示At1g10300基因的突变影响了FT、CO、GI及FLC基因的表达,使植株出现晚花表型。
