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Familial Hypercholesterolemia with Two Mutations in LDLR Gene: A Case Report and Literature Review
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作者 Hui Zhou Xiaoxiao Song +3 位作者 Bo Sun Linjin Wu Thachapol Napawan Wei Gu 《International Journal of Clinical Medicine》 2017年第10期556-564,共9页
We report a case of Familial hypercholesterolemia (FH) with two mutations in low density lipoprotein receptor (LDLR) gene and speculate the correlation between the newly discovered mutation type of LDLR gene and FH. W... We report a case of Familial hypercholesterolemia (FH) with two mutations in low density lipoprotein receptor (LDLR) gene and speculate the correlation between the newly discovered mutation type of LDLR gene and FH. We collected and analyzed the clinical data of the proband in the case and her immediate family members, and detected the LDLR, Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK-9) and Apolipoprotein B (Apo B) gene in the peripheral blood of all the participants. We found that the curative effect of the patient is limited, but no obvious complication was detected. Genetic testing results pointed out that there were two mutations in the patient’s LDLR gene. One was p.W483* mutation in exon 10 (c. 1448 G > A), another was p.T534I mutation in exon 11 (c. 1601 C > T). The p. W483* mutation in exon 10 was detected in the father and sister, additionally p. T534I mutation in exon 11 was detected in the mother. Both the two LDLR gene mutations are inherited from her parents. We hypothesize that the patient in this case was a complex heterozygote. The newly discovered mutation gene (T534I) may be one of the important causes of dyslipidemia in patients, and its adverse effects are more serious than W483* which have been reported. Also, we predict that the T534I mutation will not cause serious early onset of cardiovascular complications. 展开更多
关键词 FAMILIAL HYPERCHOLESTEROLEMIA INHERITED Disease Metabolism low-density lipoprotein receptor gene Mutation
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携带全长人极低密度脂蛋白受体基因的重组腺相关病毒的构建 被引量:2
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作者 徐咏平 张木勋 袁刚 《华中科技大学学报(医学版)》 CAS CSCD 北大核心 2007年第6期791-794,共4页
目的构建携带全长人极低密度脂蛋白受体(very low-density lipoprotein receptor,VLDLR)基因的重组腺相关病毒。方法通过设计含有特定酶切位点的引物,从人的骨骼肌中提取RNA,合成cDNA,扩增人VLDLR全长基因5′端约1 000 bp的DNA,并以含人... 目的构建携带全长人极低密度脂蛋白受体(very low-density lipoprotein receptor,VLDLR)基因的重组腺相关病毒。方法通过设计含有特定酶切位点的引物,从人的骨骼肌中提取RNA,合成cDNA,扩增人VLDLR全长基因5′端约1 000 bp的DNA,并以含人VLDLR基因片段的质粒为模板,合成人VLDLR全长基因近3′端约1 600 bp的DNA,通过粘端连接将2片段连接成全长VLDLR后,再将其连接到重组腺相关病毒包装系统的特定载体raav-UF1上,用293细胞作为包装细胞,配合重组腺相关病毒(recombinant adeno-associated virus,rAAV)相关质粒:辅助质粒(phelp-er)和包装质粒(Pxx2),包装大量携带人VLDLR基因的重组腺相关病毒(raav-VLDLR-UF1),以含绿色荧光蛋白(greenfluorescence protein,GFP)基因的重组腺相关病毒(raav-GFP-UF1)为对照,测定raav-VLDLR-UF1及raav-GFP-UF1的滴度。结果raav-GFP-UF1和raav-VLDLR-UF1的滴度均为4×1011pfu/ml,达到实验要求。结论成功构建携带全长人VLDLR基因的重组腺相关病毒,有望为2型糖尿病高脂血症的基因治疗提供一种新的方法。 展开更多
关键词 人极低密度脂蛋白受体基因 人骨骼肌 重组腺相关病毒
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人C-反应蛋白重组真核表达质粒的构建及其对人脐静脉内皮细胞LOX-1和TF表达的影响 被引量:1
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作者 高兰英 刘增长 《中国生物制品学杂志》 CAS CSCD 2012年第11期1476-1481,共6页
目的构建人C-反应蛋白(C-reactive protein,CRP)重组表达质粒pTracer CMV2-CRP,并观察其在人脐静脉内皮细胞(Human umbilical vein endothelical cells,HUVEC)中的表达及其对凝集素样氧化型低密度脂蛋白受体-1(Lectin-type oxidizedLDL ... 目的构建人C-反应蛋白(C-reactive protein,CRP)重组表达质粒pTracer CMV2-CRP,并观察其在人脐静脉内皮细胞(Human umbilical vein endothelical cells,HUVEC)中的表达及其对凝集素样氧化型低密度脂蛋白受体-1(Lectin-type oxidizedLDL receptor-1,LOX-1)、组织因子(Tissue factor,TF)表达的影响。方法以质粒pCR-BluntⅡ-TOPO-CRP为模板,PCR扩增CRP基因CDS序列,克隆至pTracer CMV2载体中,转化感受态大肠杆菌DH5α,构建重组表达质粒pTracer CMV2-CRP,转染HUVEC,设实验组(转染pTracer CMV2-CRP)、阴性对照组(转染pTracer-CMV2)及正常对照组,各组细胞经G418抗性筛选,RT-PCR及Western b1ot检测CRP基因的过表达效应及CRP的表达对HUVEC中LOX-1和TF转录及蛋白水平的影响。结果重组真核表达质粒pTracer CMV2-CRP经双酶切鉴定及测序证明构建正确。实验组细胞中,CRP基因过表达,且LOX-1和TF基因的转录及蛋白水平明显高于正常对照组和阴性对照组(P<0.05)。结论已成功构建人CRP基因重组真核表达质粒pTracerCMV2-CRP,并在HUVEC中过表达CRP,且明显上调HUVEC中LOX-1和TF的表达,为进一步阐述CRP在动脉粥样硬化形成过程中的作用提供了新的实验依据。 展开更多
关键词 C反应蛋白质 低密度脂蛋白受体 组织因子 基因表达 人脐静脉内皮细胞
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