应用RT-PCR法分析人脂肪细胞载脂蛋白E基因表达

目的　建立人脂肪细胞载脂蛋白E基因表达检测方法。方法　采用竞争性逆转录 -聚合酶链式反应 (RT -PCR)方法分析儿童脂肪细胞的载脂蛋白E基因表达。结果　载脂蛋白E基因能在儿童脂肪细胞表达 ,儿童载脂蛋白E基因表达量为( 0 41± 0 12 )。结论　采用竞争性逆转录 -聚合酶链式反应方法检测人脂肪细胞载脂蛋白E基因表达方法快速、简便、灵敏、实用、可靠 ,且能准确定量 ,值得推荐     

Apolipoprotein E and Alzheimer's disease

Genetic variation in apolipoprotein E (APOE) influences Alzheimer's disease (AD) risk. APOE ε4 alleles are the strongest genetic risk factor for late onset sporadic AD. The AD risk is dose dependent, as those carrying one APOE ε4 allele have a 2–3-fold increased risk, while those carrying two ε4 alleles have a 10–15-fold increased risk. Individuals carrying APOE ε2 alleles have lower AD risk and those carrying APOE ε3 alleles have neutral risk. APOE is a lipoprotein which functions in lipid transport, metabolism, and inflammatory modulation. Isoform specific effects of APOE within the brain include alterations to Aβ, tau, neuroinflammation, and metabolism. Here we review the association of APOE with AD, the APOE isoform specific effects within brain and periphery, and potential therapeutics.     

Apolipoprotein E ε4 allele frequency is increased in Parkinson’s disease only with co-existing Alzheimer pathology

We determined the apolipoprotein E (apoE) genotype in clinically diagnosed and neuropathologically verified cases of Parkinson’s disease (PD) (n = 45), with or without Alzheimer (AD)-type changes, and compared the apoE genotype with that in healthy age-matched controls (n = 59). The PD cases were divided into two groups according to the CERAD criteria: “O + A”, with no or only uncertain histological findings of AD, and “B + C” with histological findings suggestive or indicative of AD. DNA was isolated from frozen brain samples, and the apoE genotypes were determined using polymerase chain reaction amplification and subsequent restriction analysis by HhaI enzyme. The frequency of the apoɛ4 allele (29.4%) was significantly increased in the B + C group. The odds ratio for an apoɛ4 allele in the B + C group was 2.5 as compared to controls (95% confidence interval, 1.2–5.2). In the 0 + A group, the frequency of apoɛ4 allele (13.6%) was similar to that in controls (14.4%) and the risk of an apoɛ4 allele was not increased (odds ratio 0.94). The PD cases with an apoɛ4 allele had a greater number of cortical (P = 0.02) but not nigral Lewy bodies than those without an apoɛ4 allele (P = 0.57). The results show that neuropathologically verified PD as such is not associated with increased apoɛ4 allele frequency. Received: 15 January 1998 / Revised, accepted: 24 March 1998     

中国云南纳西族脑血管病患者载脂蛋白E基因的多态性

Currently it is not well known whether apolipoprotein E(ApoE) is a genetic susceptibility factor for cerebrovascular diseases in the Chinese Naxi population.The present study detected and sequenced ApoE polymorphisms of 90 patients with cerebrovascular diseases(58 cases of cerebral infarction and 32 cases of intracerebral hemorrhage),and 50 normal people of Naxi nationality from Yunnan province,China.The populations were used to analyze the relationship of ApoE polymorphisms with cerebral infarction and intracerebral hemorrhage.Results showed an association between ApoE gene polymorphism and the onset of cerebral infarction,and a possibility that the ε4 allele is a susceptibility locus for the risk of cerebral infarction.However,there was no evidence of a relationship between the ApoE gene polymorphism and cerebral hemorrhage.     

阿尔茨海默病与ApoE基因多态性的关系探讨

目的研究宁夏地区阿尔茨海默病（AD）和轻度认知功能障碍（MCI）与载脂蛋白E（ApoE）基因多态性的关系。方法采用PCR-RFLP（限制性片段长度多态性）方法检测80例AD患者,80例MCI患者及50例体检健康老年人的ApoE基因型和等位基因。结果 80例AD患者ApoEε2、ε3、ε4等位基因的频率分别为21.25%、61.25%、17.5%,80例MCI患者ApoEε2、ε3、ε4等位基因的频率分别为38.75%、45.00%、16.25%,观察组明显高于对照组（P〈0.05）。结论 ApoEε4是AD和MCI的共同危险因素和易感基因。     

载脂蛋白E基因型多态性与SAH后血管痉挛的相关研究

目的:探讨载脂蛋白E基因(Apolipoprotein E,APOE)多态性与自发性蛛网膜下腔出血(Subaraehnoid hemorrhage,SAH)后脑血管痉挛(Cerebral vasospasm,CVS)的相关性.方法:采用聚合酶链反应限制性片段长度多态性(Polymerase chain reactionrestriction fragment length polymorphism,PCR-RFLP)检测185例SAH患者,测定APOE基因型多态性,通过TCD评定SAH患者出血后的CVS情况.分型结果与CVS及相关临床资料等分别进行X~2检验和Logistic回归分析.结果:185例SAH患者中,32例APOE ε4携带者中有21例(占65.7%)发生CVS,153例非ε4携带者中有56例(占36.7%)发生CVS,ε4携带者的CVS发生率明显高于非ε4携带者(P=O.022);单因素和多因素Logistic回归均提示ε4是CVS的危险因素.结论:APOEε4等位基因是SAH患者发生CVS的危险因素.     

不同人群载脂蛋白E基因频率分布特征

目的 :研究江苏地区汉族人群载脂蛋白E(ApoE)基因型及等位基因频率 ,并与国内外不同人群比较分布特征。方法 :聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)方法检测 16 8例江苏地区无血缘关系汉族人群ApoE基因型。计算各基因型及等位基因频率。结果 :江苏地区汉族人群载脂蛋白E各基因型频率分别为 :ε2 / 2 =0 .6 0 % ;ε2 / 3 =11.90 % ;ε2 / 4 =1.2 0 % ;ε3 / 4 =10 .70 % ;ε3 / 3 =75 .0 0 % ;ε4 / 4 =0 .6 0 % ;各等位基因频率分别为 :ε2 =7.14% ;ε3 =86 .31% ;ε4 =6 .5 5 %。频率分布在不同年龄、性别无显著差异。与其他地区中国人群频率分布相似。中国人群ε3 等位基因频率明显高于欧美人群 ,而ε4等位基因频率明显低于欧美人群。结论 :江苏地区汉族人群载脂蛋白E等位基因频率分布与其他地区中国人群频率分布相似 ,但与欧美人群有显著差异。     

载脂蛋白A-I半胱氨酸突变体结合脂质后抗炎性能的变化

目的 探讨载脂蛋白A-I半胱氨酸突变体重组高密度脂蛋白抗炎能力.方法 应用脂多糖诱导构建内毒素血症小鼠模型,选取3种半胱氨酸突变体[A-I(S52C)、A-I(K107C)、A-I(R173C)]及野生型载脂蛋白A-I结合二棕榈酰磷脂酰胆碱(DPPC)构建重组高密度脂蛋白(rHDL52、rHDL107、rHDL173、rHDLwt)注射小鼠作为干预组(每组10只小鼠),以脂多糖组(9只小鼠)、生理盐水组(5只小鼠)作为对照.酶联免疫吸附试验(ELISA)检测4种重组高密度脂蛋白干预后对肿瘤坏死因子(TNF)α,白细胞介素(IL)1β和IL-6的影响.病理检测各组小鼠肺组织.结果 小鼠注射后24 h,rHDL52组血清中TNF-α和IL-1β明显低于rHDLwt组[(39.66±2.44)pg/ml比(135.28±12.84)pg/ml;(66.83 ±6.24)pg/ml比(82.00±8.19)pg/ml,均P＜0.05].常规病理分析显示,rHDL52比rHDL107、rHDL173及rHDLwt更能够降低炎症细胞的浸润,保护肺器官免受损伤.结论 rHDL52拥有较野生型载脂蛋白更强的抗炎能力.     

泸州地区正常人群载脂蛋白A_I,B_(100)及脂蛋白(a)的调查

测定泸州地区250名健康人血清中的载脂蛋白（Apo）A－I．B_100及脂蛋白（a）［LP（a）］水平。结果:ApoA－I：1．29±0．24g／L，ApoB_100:0．66±0．18g／L，Apo－I／ApoB_100：2．05±0.64,LP（a）：上限值为300mg／L，并与几个城市的结果作了比较。