简介：分析鉴定ApoCⅢ转基因阳性小型猪.从仔猪尾中提取基因组DNA,通过PCR和Southernblotting等手段进行鉴定;从仔猪肝、小肠、心、肾、肺、脾、胃以及皮肤等冰冻组织以Trizol法提取RNA,以RT-PCR手段进行检测分析.经过对18头仔猪进行PCR分析,显示其中的15头含有人ApoCⅢ基因,随后的测序和Southernblotting亦证实,猪的基因组中已经整合有人ApoCⅢ基因.RT-PCR证实人apoCⅢ基因已经在转基因小型猪的肝脏和小肠中进行了翻译.本研究成功制备了人ApoCⅢ转基因小型猪,可作为高脂血症与动脉粥样硬化疾病之间关系很有价值的研究模型.

简介：CurrentevidenceshowsthatapolipoproteinE(APOE),apolipoproteinCI(APOC1)andlowdensitylipoproteinreceptor-relatedprotein(LRP)variationsarerelatedtolate-onsetAlzheimer’sdisease.However,itremainsunclearifgeneticpolymorphismsinthesegenesareassociatedwithcognitivedeclineinlate-onsetAlzheimer’sdiseasepatients.Weperformeda30-monthlongitudinalcohortstudytoinvestigatetherelationshipbetweenAlzheimer’sdiseaseandAPOE,APOC1,andLRP.Inthisstudy,78ChineseHanpatientswithlate-onsetAlzheimer’sdiseasewererecruitedformGuangxiZhuangAutonomousRegioninChina.APOE,APOC1,andLRPgenotypingwasperformedusingpolymerasechainreaction-restrictionfragmentlengthpolymorphisms.TheMini-MentalStateExaminationandClinicalDementiaRatingScalewereusedtoassesspatients’cognitivefunction.Aftera30-monthfollow-upperiod,wefoundasignificantreductioninMini-MentalStateExaminationtotalscore,ahigherproportionofpatientsfulfillingcognitiveimpairmentprogressioncriteria,andahigherproportionofAPOC1H2carriersinAPOEε4carrierscomparedwithnon-carriers.Inaddition,theAPOEε4allelefrequencywassignificantlyhigherinthecognitiveimpairmentprogressiongroupcomparedwiththenon-cognitiveimpairmentprogressiongroup.Inconclusion,APOEε4playsanimportantroleinaugmentingcognitivedecline,andAPOC1H2mayactsynergisticallywithAPOEε4inincreasingtheriskofcognitivedeclineinChinesepatientswithlate-onsetAlzheimer’sdisease.

简介：摘要目的探讨载脂蛋白(apolipoprotein，apo)C1基因(APOC1)rs4420638A/G和－317H1/H2位点多态性与中国妇女子痫前期(pre-eclampsia，PE)发生的相关性及其对临床和代谢指标的影响。方法本研究包括289例PE患者和824例无妊娠并发症的对照孕妇。采用Taqman荧光探针和聚合酶链反应-限制性片段长度多态性方法分别测定APOC1 rs4420638A/G和－317H1/H2位点多态性，采用酶法和PEG增强免疫比浊法分别测定血脂和apo水平。结果APOC1基因rs4420638A/G和－317H1/H2位点基因型频率与等位基因频率在PE组和对照组之间差异无统计学意义(P>0.05)。但是，携带rs4420638位点G等位基因的PE患者有更高的血清甘油三酯、非高密度脂蛋白-胆固醇、apoB水平以及apoB/apoA1比值(P<0.05)。携带－317H1/H2位点H2等位基因的PE患者有更小的分娩孕周(P<0.05)。结论APOC1基因rs4420638和－317H1/H2位点多态性与PE患者血浆脂蛋白代谢异常有关。未发现这两个基因多态性与中国妇女PE发生的风险相关联。