搜索到47094篇“ POLYMORPHISM“的相关文章
聚合形态被引量:3
2011年
阿希姆·门格斯在文章中展示了一系列的形态生成设计方法和技术,这些技术整合了形态和材料性。在一些设计实验研究中,他对形式、材料和结构的理解不再是相互独立的,而是一个复杂和相互关联的聚合形态系统,这个系统回应了不同的输入因子和环境影响,且遵循先进制造过程的逻辑。
阿希姆·门格斯张朔炯封帅(校)
同质多晶现象被引量:7
2005年
同质多晶现象是晶体独有的一个特征。本文首先给出了同质多晶现象的基本概念 ,与同素异形现象、假多晶现象进行了区别并对互变异构多晶与构象异构多晶进行了讨论。同质多晶型物的稳定性是全面理解与把握同质多晶现象的重要参数 ,本文主要从相图、晶型的转变、相对稳定性以及多晶现象控制等方面对其进行介绍。最后对同质多晶现象的研究手段进行了综述。
任国宾王静康徐昭
Relationship between the rs2241766 ADIPOQ Polymorphism in a Black African Population and the Occurrence of Type 2 Diabetes
2024年
Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease, characterized by chronic hyperglycemia. This pathology is linked to various genes whose interaction with the environment promotes its development. The aim of this work was to determine the relationship between the rs2241766 (T/G) polymorphism of the ADIPOQ gene with type 2 diabetes in the black population. Material and Methods: This work was a case-control study, involving type 2 diabetics subjects (n = 94) and controls (n = 82). The study took place from September 2022 to September 2023. Patients were recruited in the Endocrinology Department of the Libreville University Hospital Center. Analysis was performed in the Biochemistry laboratory of the University of Health Sciences in Libreville and at the Research Institute of Health Sciences of Bobodioulasso. Genomic DNA was extracted using the protocol Qiagen kit and the PCR-RFLP method was used to determine the rs2241766 (T/G) polymorphism of the ADIPOQ gene. Results: Only 2 genotypes were found in this population, the TT genotype and the GT genotype. The proportions were not different between the two groups (p = 0.1095) neither the distribution of G and T alleles (p = 0.1095). On the other hand, the HDL hypocholesterolemia was frequent in subjects with the GT genotype compared to TT heterozygous (51.1% vs 48.9%, p = 0.0280;OR = 0.55 [0.30 - 1.01]). Conclusion: There was no association between the rs2241766 (T/G) variant of the ADIPOQ gene and the occurrence of type 2 diabetes in this population. On the other hand, a relationship between HDL hypocholesterolemia and the GT genotype has been established.
Aude Syntia Mbang BengoneRosalie Nikiema-NdongElisabeth LendoyeAlvine Sibylle BatouEdwige Nnegue EdzoSerge BekaleDaniela NsameFrédéric Da DariFélix Ovono Abessolo
关键词:POLYMORPHISMPCR-RFLP
牦牛乳蛋白多态性对奶酪凝乳特性的影响
2024年
为了检测青海部分地区7家不同牧场牦牛乳κ-酪蛋白和αs1-酪蛋白基因多态性,作者分析了基因多态性对奶酪凝乳特性的影响。通过提取牦牛乳体细胞,采用限制性片段长度多态性聚合酶链式反应(polymerase chain reaction-restrition fragment length polymophism,PCR-RFLP)分析技术,对提取的DNA进行PCR扩增及酶切,对电泳条带进行基因分型;提取牦牛乳蛋白,采用高效液相色谱法(high performance liquid chromatography,HPLC)分析各样品与标准品色谱图,对出峰时间和出峰形状进行基因分型。利用流变仪测定不同基因型牦牛乳凝乳过程中流变特性,记录奶酪凝乳时间,计算奶酪得率。牦牛乳κ-酪蛋白基因有AA型、AB型和BB型3种基因型,3种基因型与凝乳特性的分析表明,在凝乳时间方面A等位基因为有利等位基因。牦牛乳αs1-酪蛋白存在AA型、AB型和BB型3种类型,3种基因型与凝乳特性的分析表明,在凝乳时间、奶酪得率、最大动力黏度和最大剪切速率方面B等位基因为有利等位基因。以上结果表明,青海7家牧场牦牛乳κ-酪蛋白和αs1-酪蛋白均存在基因多态性,κ-酪蛋白A等位基因和αs1-酪蛋白B等位基因是影响牦牛乳凝乳特性的主效基因。
谈婷罗毅皓孙万成孙祥祥
关键词:牦牛乳蛋白质多态性凝乳特性
Correlation between TGFβ1 Gene Polymorphism and Asthma in Baise, Guangxi Children
2024年
Objective: This research was to study the correlation between the rs1800469, rs1800470, rs2241712, rs224171 and rs4803455 of TGFβ1 gene and asthma in Baise, Guangxi children. This research also studied the relationship between serum concentration of TGFβ1 and childhood asthma. Method: From June 2022 to December 2023, 121 children had physical examination in affiliated Hospital of Youjiang Medical University for Nationalities were selected as control group and 118 children suffered from asthma in affiliated Hospital of Youjiang Medical University for Nationalities during the same period were selected as asthma group. Result: There was no correlation between rs1800469, rs1800470, rs2241712, rs2241715, rs4803455 and asthma in Baise, Guangxi children. Linkage disequilibrium analysis showed that there were strong linkage disequilibrium among rs1800469, rs1800470, rs2241712, rs2241715 and rs4803455. Their haplotypes had no significant correlation with childhood asthma. The serum concentration of TGFβ1 in asthma group was lower than that in control group (p β1 had no significant relationship with the genotypes of rs1800469, rs1800470, rs2241712, rs2241715 and rs4803455.
Fangxin CaoNa LinJuntao LinGai YangXintong Wang
关键词:TGFΒ1SNP
PEAR1基因多态性与缺血性脑卒中复发易感性的关系研究
2024年
目的分析血小板内皮聚集受体1(PEAR1)基因多态性与缺血性脑卒中复发的相关性,为防治缺血性脑卒中复发提供依据。方法选取该院神经内科门急诊和住院确诊为急性缺血性脑卒中的150例患者作为研究对象,根据是否为脑卒中复发分为初发脑卒中组(127例)和复发脑卒中组(23例)。应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法分析PEAR1基因rs12041331位点单核苷酸多态性,并测序验证基因型。结果初发脑卒中组和复发脑卒中组PEAR1基因rs12041331G>A位点GG、GA、AA基因型和G、A等位基因频率比较,差异有统计学意义(P<0.05);复发脑卒中组的年龄较初发脑卒中组高,差异有统计学意义(P<0.05)。Logistic回归分析显示,年龄、PEAR1基因rs12041331位点AA基因型与缺血性脑卒中复发有关,是缺血性脑卒中复发的危险因素(P<0.05)。结论PEAR1基因rs12041331G>A位点多态性与缺血性脑卒中复发相关。PEAR1基因纯合突变可能是缺血性脑卒中复发的危险因素,PEAR1基因可能是缺血性脑卒中复发风险预测的候选基因。
张云芳聂晓改吉永王祝君彭传梅
关键词:缺血性脑卒中单核苷酸多态性等位基因
KCNQ1 rs2237895 gene polymorphism increases susceptibility to type 2 diabetes mellitus in Asian populations
2024年
BACKGROUND The association of single nucleotide polymorphism of KCNQ1 gene rs2237895 with type 2 diabetes mellitus(T2DM)is currently controversial.It is unknown whether this association can be gene realized across different populations.AIM To determine the association of KCNQ1 rs2237895 with T2DM and provide reliable evidence for genetic susceptibility to T2DM.METHODS We searched PubMed,Embase,Web of Science,Cochrane Library,Medline,Baidu Academic,China National Knowledge Infrastructure,China Biomedical Literature Database,and Wanfang to investigate the association between KCNQ1 gene rs2237895 and the risk of T2DM up to January 12,2022.Review Manager 5.4 was used to analyze the association of the KCNQ1 gene rs2237895 polymorphism with T2DM and to evaluate the publication bias of the selected literature.RESULTS Twelve case–control studies(including 11273 cases and 11654 controls)met our inclusion criteria.In the full population,allelic model[odds ratio(OR):1.19;95%confidence interval(95%CI):1.09–1.29;P<0.0001],recessive model(OR:1.20;95%CI:1.11–1.29;P<0.0001),dominant model(OR:1.27.95%CI:1.14–1.42;P<0.0001),and codominant model(OR:1.36;95%CI:1.15–1.60;P=0.0003)(OR:1.22;95%CI:1.10–1.36;P=0.0002)indicated that the KCNQ1 gene rs2237895 polymorphism was significantly correlated with susceptibility to T2DM.In stratified analysis,this association was confirmed in Asian populations:allelic model(OR:1.25;95%CI:1.13–1.37;P<0.0001),recessive model(OR:1.29;95%CI:1.11–1.49;P=0.0007),dominant model(OR:1.35;95%CI:1.20–1.52;P<0.0001),codominant model(OR:1.49;95%CI:1.22–1.81;P<0.0001)(OR:1.26;95%CI:1.16–1.36;P<0.0001).In non-Asian populations,this association was not significant:Allelic model(OR:1.06,95%CI:0.98–1.14;P=0.12),recessive model(OR:1.04;95%CI:0.75–1.42;P=0.83),dominant model(OR:1.06;95%CI:0.98–1.15;P=0.15),codominant model(OR:1.08;95%CI:0.82–1.42;P=0.60.OR:1.15;95%CI:0.95–1.39;P=0.14).CONCLUSION KCNQ1 gene rs2237895 was significantly associated with susceptibility to T2DM in an Asian pop
Dong-Xu LiLi-Ping YinYu-Qi SongNan-Nan ShaoHuan ZhuChen-Sen HeJiang-Jie Sun
关键词:KCNQ1
Toll-like receptors 2 polymorphism is associated with psoriasis: A case-control study in the northern Chinese population
2024年
Background:Psoriasis is a disease caused by genetics and immune system dysfunction,affecting the skin and joints.Toll-like receptors(TLRs)play an important role in triggering the innate immune response and controlling adaptive immunity.The role of TLR2 in the progression of psoriasis is not well understood.Methods:A case-control study was conducted on a northern Chinese Han population,consisting of psoriasis patients and healthy control subjects.Genotyping was performed using the tetra-primer amplification refractory mutation system-polymerase chain reaction(ARMS-PCR),and allele and genotype frequencies of four SNPs in TLR2 were analyzed in 270 psoriasis patients and 246 healthy controls.Results:Four TLR2 SNPs(rs11938228,rs4696480,rs3804099,rs5743699)were genotyped and found to be in linkage disequilibrium.The genotype distributions of rs11938228 and rs4696480 in two groups were in Hardy-Weinberg equilibrium and statistically significant except for the overdominance model.The haplotypes ATTC and ATCC were found to be protective against psoriasis.Conclusion:Our study found a correlation between TLR2 genetic variations and the likelihood of psoriasis in northern China.
Siyu HaoYu ZhangAnqi YinYing LyuNannan TongJiangtian TianYuzhen Li
关键词:PSORIASISPOLYMORPHISMSUSCEPTIBILITY
Interaction between catechol-O-methyltransferase Val/Met polymorphism and cognitive reserve for negative symptoms in schizophrenia
2024年
BACKGROUND Cognitive reserve(CR)and the catechol-O-methyltransferase(COMT)Val/Met polymorphism are reportedly linked to negative symptoms in schizophrenia.However,the regulatory effect of the COMT genotype on the relationship between CR and negative symptoms is still unexamined.AIM To investigate whether the relationship between CR and negative symptoms could be regulated by the COMT Val/Met polymorphism.METHODS In a cross-sectional study,54 clinically stable patients with schizophrenia underwent assessments for the COMT genotype,CR,and negative symptoms.CR was estimated using scores in the information and similarities subtests of a short form of the Chinese version of the Wechsler Adult Intelligence Scale.RESULTS COMT Met-carriers exhibited fewer negative symptoms than Val homozygotes.In the total sample,significant negative correlations were found between negative symptoms and information,similarities.Associations between information,similarities and negative symptoms were observed in Val homozygotes only,with information and similarities showing interaction effects with the COMT genotype in relation to negative symptoms(information,β=-0.282,95%CI:-0.552 to-0.011,P=0.042;similarities,β=-0.250,95%CI:-0.495 to-0.004,P=0.046).CONCLUSION This study provides initial evidence that the association between negative symptoms and CR is under the regulation of the COMT genotype in schizophrenia.
Wen-Peng HouXiang-Qin QinWei-Wei HouYun-Yi HanQi-Jing BoFang DongFu-Chun ZhouXian-Bin LiChuan-Yue Wang
关键词:SCHIZOPHRENIA
GSTP1和SLCO1B1基因多态性对大剂量甲氨蝶呤化疗排泄延迟及不良反应的影响
2024年
目的 研究GSTP1和SLCO1B1基因多态性与儿童急性淋巴细胞白血病(ALL)患儿使用大剂量甲氨蝶呤(HD-MTX)化疗后出现排泄延迟及不良反应的相关性及预测价值。方法 选择2021年1月至2022年12月南京医科大学附属儿童医院80例ALL患儿为研究对象,采用聚合酶链式反应(PCR)法测定所有患儿GSTP1(rs1695、rs537387344)和SLCO1B1(rs2306283、rs4149056)等位点的基因多态性,采用均相酶扩大免疫分析(EMIT)法测定MTX血药浓度,记录在接受HD-MTX治疗过程中发生的不良反应。用单因素分析GSTP1和SLCO1B1基因多态性、HD-MTX排泄延迟及不良反应的相关性,并得出显著性因素;用多因素Logistic回归筛选出预测因子,绘制受试者工作特征(ROC)曲线评价预测价值。结果 SLCO1B1 rs4149056 TC与排泄延迟具有相关性;72 h血药浓度、GSTP1 rs1695 AA、SLCO1B1 rs4149056 TC基因型与MTX化疗后不良反应的发生具有相关性,差异有统计学意义(P <0.05)。ROC曲线分析结果表明,SLCO1B1 rs4149056 TC预测HD-MTX排泄延迟的曲线下面积(AUC)为0.618,GSTP1 rs1695 AA与SLCO1B1 rs4149056 TC预测HD-MTX不良反应的AUC分别为0.623和0.704。结论 SLCO1B1 rs4149056 TC基因型可能增加HD-MTX化疗后发生排泄延迟的风险,GSTP1 rs1695 AA、SLCO1B1 rs4149056 TC基因型可能是发生不良反应的危险因素。SLCO1B1基因多态性对HD-MTX化疗后排泄延迟和不良反应具有一定的预测价值。
崔乐郭宏丽刘思婷
关键词:甲氨蝶呤基因多态性急性淋巴细胞白血病

相关作者

何帮顺
作品数:130被引量:268H指数:7
供职机构:江苏省人民医院
研究主题:多态性 POLYMORPHISM 基因多态性 乳腺癌 CD147
王书奎
作品数:349被引量:1,201H指数:15
供职机构:江苏省人民医院
研究主题:流式细胞术 胃癌 肿瘤 肿瘤转移 结直肠癌
邓国宏
作品数:146被引量:401H指数:11
供职机构:第三军医大学西南医院
研究主题:HBV 雌激素受体Α 慢性重型 乙型肝炎 预后
王宇明
作品数:862被引量:4,666H指数:30
供职机构:第三军医大学西南医院
研究主题:肝衰竭 肝细胞 乙型肝炎 重型肝炎 慢性乙型肝炎
陈嵩
作品数:57被引量:144H指数:6
供职机构:第三军医大学西南医院
研究主题:丙型肝炎病毒 疗效观察 胆红素吸附 自身免疫性胆管炎 重叠综合征