对氧磷酶1基因Gln192Arg多态性与阿尔茨海默病的关联研究

目的 探讨对氧磷酶1(paraoxonase—1，PON1)基因Gln192Arg多态性与汉族散发阿尔茨海默病(AD)的关系。方法 以165例散发AD患者和174例年龄匹配老年人为对象进行病例．对照研究。用PCR-RFLP法检测PON1及载脂蛋白E(ApoE)基因多态并进行关联分析。结果 AD组与对照组PON1基因Gln192Arg多态性分布没有显著性差异。研究对象按ApoEε4携带状况分层后，各亚组之间基因多态性分布亦无显著性差异。结论 PON1基因Gln192Arg多态性与中国汉族人群AD不存在关联。     

冠心病患者对氧磷酶1基因Gln/Arg192多态性研究

目的：研究对氧磷酶1基因Gln／Arg192多态性与冠心病的关系。方法：应用聚合酶链反应一限制性片段长度多态性技术及DNA序列检测对冠心病72例和健康人67例行对氧磷酶1第192位基因分型。结果：江苏地区汉族健康人群对氧磷酶1各基因型频率分别为：AA=20．9%；AB=56．7％；BB=22．4%；各等位基因频率分别为：AB=49％；B=51％。冠心病组对氧磷酶1各基因型频率分别为：AA=13．9％；AB=51．4%；BB=34．7％；各等位基因频率分别为：A=40％；B=60％。冠心病组等位基因频率与正常对照组比较差异无显著性。结论：未发现对氧磷酶1基因192位Gln／Arg多态性与冠心病有关联。     

冠心病患者对氧磷酶基因192位Gln—Arg多态性的研究

目的 探讨冠心病（CHD）患者血脂改变是否与对氧磷酶（PON）基因192位Gln-Arg变异有关。方法 应用多聚酶链反应（PCR）对成都地区汉族118例冠心病患者及128例正常对照者PON基因酶切位点的限制性长度多态性（RFLP）进行研究。血脂用酶法测定。结果 CHD患者和正常对照组PON基因均以QR基因型为主,其频率分别为0．578和0．525。正常对照组和CHD组PON基因R等位基因频率分别为0．52和0．50,无显著差异（P＞0．05）。中国人PON基因R等位基因频率显著高于白种人及印度人（P＜0．01）,而低于日本人及中国台北人（P＜0．01）,存在种族差异。结论 示发现PON1基因192位Gln-Arg多态性与中国人CHD有关联。     

对氧磷酶1基因Gln／Arg192多态性与氯吡格雷抵抗相关性初步研究

目的：探索对氧磷酶1（PON-1）基因Gln／Arg192多态性与氯吡格雷抵抗（ca）发生的相关性。方法：采用病例-对照研究的方法,共入选260例接受冠状动脉支架安置（PCI）术并服用氯吡格雷抗血小板治疗的冠心病人作为研究对象,检测二磷酸腺苷（ADP）诱导的最大血小板聚集率,服用300mg氯吡格雷24h后最大血小板聚集较基线值下降〈10％定义为氯吡格雷抵抗（CR）。根据血小板聚集率检测结果将入选人群分为CR组（n=54）和非氯吡格雷抵抗（NCR）组（n=206）。采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法测定PON-1基因Gln／Argl92基因多态性,分析PON-1基因GlrdArg192多态性与CR发生的相关性。结果：氯吡格雷抵抗发生率为20．8％。PON-1基因Gln／Arg192基因型分布频率符合Hardy—Weinberg平衡定律。RR、QR、QQ基因型频率在CR组分别为38．9％、50．0％、11．1％,而在NCR组分别为30．6％、57．3％、12．1％,基因型频率分布差异在两组间无统计学意义（P〉0．05）;R、Q等位基因频率在两组间分别为：69．4％、65-3％和30．6％、34．7％,等位基因频率分布差异在两组间亦无统计学意义（P〉0．05）。结论：PON-1基因Gln／Arg192多态性与CR的发生无相关性。     

中国人内源性高甘油三酯血症患者对氧磷酶基因192位Gln—Arg多态性的研究

OBJECTIVE: To investigate the 192 Gln-Arg polymorphism of paraoxonase (PON) gene and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia in Chinese population in Chengdu area. METHODS: The genotype and allele frequencies of paraoxonase gene 192 Gln-Arg polymorphism were assayed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Serum lipids were measured by enzymatic kits and apolipoproteins AI, A II, B100, C I, C II and E were measured by the RID kits developed by the Apolipoprotein Research Unit of this university in 128 HTG patients whose fasting serum TG levels were > or = 2.26 mmol/L and 129 healthy subjects whose fasting serum TG levels were < 1.82 mmol/L and TC levels < 6.2 mmol/L from a population of Chinese Han nationality in Chengdu area. RESULTS: Both in HTG group and control group, the QR genotype of PON gene was the major one, and the frequencies were 0.515 and 0.581 respectively. No differences were found in PON gene Gln-Arg polymorphism between the HTG group and the control group. In the control group, the QQ genotype of PON gene was found to have higher serum apoA I levels, compared with the RR genotype (P < 0.05). But in the HTG group, when compared with the RR genotype, the QQ genotype was found to have lower serum apoA I and A II levels and higher serum apoE levels. CONCLUSION: These may be an association of the QQ genotype of the paraoxonase 192 Gln-Arg polymorphism with the decrease of serum apoA I level and the increase of serum apoE level in endogenous hypertriglyceridemica.     

阿尔茨海默病与NQO1和载脂蛋白E基因多态性关联分析

目的　探讨NQO1基因C6 0 9T位点突变及其与载脂蛋白 (Apo)E基因相互作用在散发性阿尔茨海默病 (SAD)发病机制中的作用。方法　应用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法检测了 92例SAD患者和 10 8例正常老年人NQO1基因和ApoE基因多态性分布特征。结果　NQO1T等位基因和T/C +T/T基因型频率SAD组分别为 5 6 %和 89% ,对照组分别为 4 5 %和 71%。SAD组ApoE2等位基因频率显著低于对照组 (χ2 =3.75 3,P <0 .0 5 ) ,而ApoE4等位基因频率高于对照组 ,但差异无显著意义 (χ2 =1.86 3,P =0 .172 )。同时 ,NQO1T/T和T/C基因型与SAD发病相关不受ApoE基因型影响。结论　NQO1基因多态性与中国汉族人SAD发病有明显关联。NQO1基因可能是中国汉族人SAD发病独立的易感基因。     

冠心病患者对氧磷酶基因192位Gln-Arg多态性的研究

目的　探讨冠心病 (CHD)患者血脂改变是否与对氧磷酶 (PON)基因 192位 Gln- Arg变异有关。方法　应用多聚酶链反应 (PCR)对成都地区汉族 118例冠心病患者及 12 8例正常对照者 PON基因酶切位点的限制性片段长度多态性 (RFL P)进行研究。血脂用酶法测定。结果　 CHD患者和正常对照组 PON基因均以 QR基因型为主 ,其频率分别为 0 .5 78和 0 .5 2 5。正常对照组和 CHD组 PON基因 R等位基因频率分别为 0 .5 2和 0 .5 0 ,无显著差异 (P>0 .0 5 )。中国人 PON基因 R等位基因频率显著高于白种人及印度人 (P<0 .0 1) ,而低于日本人及中国台北人(P<0 .0 1) ,存在种族差异。结论　未发现 PON1基因 192位 Gln- Arg多态性与中国人 CHD有关联     

对氧磷酶1基因位点多态性与川崎病的关系研究

目的 探讨对氧磷酶1(PON1)基因rs662、rs3917541、rs3917539位点多态性与儿童川崎病(KD)的发病风险及其并发冠状动脉损害之间的相关性.方法 利用聚合酶链反应-直接测序法(PCR-SBT)分析93例KD患儿(KD组)和94例健康儿童(对照组)PON1基因的rs662、rs3917541、rs39...     

对氧磷酶-1的192位点基因多态性与颈动脉斑块关系

目的探讨对氧磷酶-1（PON-1）基因Glu-Arg192位点基因多态性与颈动脉斑块的关系。方法用多聚酶联反应限制片段多态性分析技术（PCR-RFLP）,对49例颈动脉斑块形成病人及49例正常人PON-1的192位点进行基因分型。结果颈动脉斑块病人的PON-1QQ、QR、RR基因型的构成比与正常人比较差异无显著性（χ^2=1.030,P〉0.05）。结论PON-1的92等位点基因型与颈动脉斑块形成无相关关系。     

对氧磷酶-1与代谢综合征的关系研究

目的：探讨对氧磷酶-1（PON-1）-q代谢综合征（MS）的关系。方法：本文测定31例Ms患者和33例健康人血清PON-1活性．并应用聚合酶链式反应一限制性片段长度多态性（PCR-RFLP）技术研究其PON-1第191位密码子基因变异。结果：（1）MS组血清PON-1活性低于对照组，差别具有统计学意义（t=-3．6，P〈0．05）。（2）MS组与对照组PON-1第191位密码子基因型分布无显著性差异（X^2=0．922，P〉0．05）。结论：MS组血清PON-1活性显著低于对照组．这可能是MS患者心血管疾病高发的原因之一。     

Gln192Arg polymorphism in paraoxonase 1 gene is associated with Alzheimer disease in a Chinese Han ethnic population

Background Oxidative stress such as low-density lipoprotein （LDL） oxidation is thought to be an important mechanism in Alzheimer＇s disease （AD）. Paraoxonase 1 （PON1）, an enzyme located on high-density lipoprotein, can prevent LDL from oxidation to some extent. It is also a potent cholinesterase inhibitor and an arylesterase, combating organophosphate poisoning and metabolization of environmental neurotoxins which might be responsible for neurodegeneration with aging.We evaluated the association of Gln192Arg polymorphism in the PON1 gene with AD in a Chinese Han ethnic population. Methods Patients and age-matched controls were recruited from outpatient clinics and a population-based epidemiological survey, respectively. Gln192Arg polymorphism in the PON1 gene was detected by allele-specific PCR technique in 521 patients with AD and 578 healthy controls. Results The presence of at least one of PON1 R alleles （Q/R or R/R） was lower in AD patients than in the controls （82.7% vs 87.4%; χ^2 = 4.68, P = 0.03）. PON1 gene R allele frequency was lower in AD patients than in the controls （60.7% vs 64.7%; χ^2=3.85, P = 0.05）. One-way ANOVA showed that PON1 genotype had no effect on the age of onset for developing AD. Logistic regression analysis demonstrated the age and sex-adjusted odds ratio （OR） for the risk of AD in PON1 of PON1 R allele carriers was 0.71 （P = 0.044, 95%CI, 0.51 - 0.99）. Conclusion Our results indicate that Gln192Arg polymorphism in the PON1 gene is associated with AD, and PON1 R allele might be a protective factor for AD in a Chinese Han ethnic population.     

中国人群中载脂蛋白E等位基因型与阿尔茨海默病的相关性分析

目的：研究中国人群中载脂蛋白E等位基因型与阿尔茨海默病的关联。方法：利用PCR和限制性内切酶酶解,分析阿尔茨海默病患者及正常老年人载脂蛋白E各等位基因、基因型的频率。结果：ApoEε2、ApoEε3、ApoEε4这三个等位基因出现的次数（和频率）在56例散发性阿尔茨海默病（AD）患者中分别3(2．7％）、84（75．0％）、25（22．3％）,而在67例健康对照中分别为9（6．7％）、115（85．8％）、10（7．5％）。ApoEε4等位基因在AD患者中出现的频率明显高于对照组,统计学处理说明其差异有显著性（χ^2=10.99,P＜0．01,OR＝3．59,95％CI＝1．54－8．41）;ApoEε3等位基因在AD组中出现的频率低于对照组,两组中的差异也有统计学意义（P＜0．05）。结论：ApoEε4等位基因是AD的危险因素,ApoEε3等位基因在AD的发生中可能具有一定保护作用。     

阿尔茨海默病与ApoE基因多态性研究

目的:探讨新疆汉族人群载脂蛋白E(ApoE)基因多态性与阿尔茨海默病(AD)的关系。方法:选择98例诊断很可能是AD的汉族患者(AD组)及103例正常对照者(对照组),应用聚合酶链反应-限制性片断长度多态性分析(PCR-RFLP)方法测定ApoE基因型和等位基因频率。结果:(1)AD组ε3/4基因型频率为25.51%,高于对照组的11.65%(P<0.05),2组ε3/3和ε2/3基因型分布差异无统计学意义。AD组和对照组ApoEε4等位基因频率分别为13.78%和6.31%,差异有统计学意义(P<0.05)。(2)AD组和对照组女性ApoEε4等位基因频率分别为14.52%和6.92%,差异亦具有统计学意义(P<0.05)。结论:ApoEε4等位基因是AD的危险因素,尤在女性AD患者的发病中起重要作用。     

过氧化物酶体增殖物激活受体δ+294T/C基因多态性与冠心病的关系

目的探讨过氧化物酶体增殖物激活受体δ(PPARδ) 294T/C基因多态性与冠心病的关系。方法运用聚合酶链式反应及限制酶切片段长度多态性技术分析无血缘关系汉族人群[82例正常对照者(NC),120例冠心病(CHD)患者]的PPARδ 294T/C基因多态性,分析基因型频率、等位基因频率,并对不同基因型患者冠心病的危险性进行评价。结果两组间基因型分布有显著性差异(P<0.05);CHD组TC CC基因频率及C等位基因频率均明显高于NC组(P<0.05);C等位基因携带(TC CC)者冠心病危险性高于TT基因型(C等位基因携带者OR:3.16,95%CI:1.39～7.14)。结论PPARδ 294T/C基因多态性与冠心病之间有重要的相关性,C等位基因携带可能是冠心病的一个的危险因素。     

烟酰胺腺嘌呤二核苷酸磷酸:醌氧化还原酶1基因多态性与认知功能减退和老年性痴呆的关系

目的分析烟酰胺腺嘌呤二核苷酸磷酸:醌氧化还原酶1(NQO1)基因多态性与认知功能减退和阿尔茨海默病(AD)发病的关系.方法经多聚酶链反应扩增后,用变性高效液相色谱和DNA自动测序等方法,分析来自流调人群的110例简易精神状态量表(MMSE)评分正常者,21例评分低于正常但非AD者,以及65例AD患者C609T多态性位点分布频率的差异.结果MMSE评分正常组与低于正常组NQ01基因C609T位点基因型分布差异有显著性(P＜0.05),携带T/T或C/T基因型者患认知功能减退的危险性增高(0R=2.8,95%CI 0.96～8.18,P=0.024).T等位基因频率在AD组(53%)显著高于对照组(38%)(0R=1.87,95%CI 1.20～2.90,P=0.005),T/T和C/T基因型在AD组(83%)和对照组(60%)之间差异亦有显著性(OR=3.27,95%CI 1.54～6.94,P=0.001).结论NQD1基因C609T多态位点可能是认知功能减退和散发性AD的一个共同危险因素.     

汉族群体血管紧张素原基因T174M多态性与心肌梗死相关

目的: 探讨血管紧张素原(angiotensinogen,AGT)基因T174M变异与中国人汉族群体心肌梗死(MI)的关系. 方法: 采用聚合酶链反应(PCR)、限制性片段长度多态性(restriction fragment length polymorphism,RFLP)分析,对105例MI患者和201例无冠心病证据的对照组(汉族群体)进行AGT基因T174M等位基因检测. 结果: MI患者AGT基因174MM型(7.6%)和M174等位基因(16.7%)的频率显著高于健康对照组(分别为1.49%和9.45%,χ2=7.57,P＜0.025,χ2=5.79,P＜0.05),经校正冠心病的主要危险因素后,AGT基因174MM仍可显著增加心肌梗死发生的危险性(比数比3.66,P=0.018).结论: AGT基因T174M可能是汉族群体MI发病的重要危险因素之一.     

Relationship between apolipoprotein E, D10S1225 polymorphisms and late-onset Alzheimer＇s disease

Background There were some papers published in the Jonmal of Science, December 2000 suggesting that one or more important susceptibility genes for late onset Alzheimer＇s disease （LOAD） were located on the long arm of chromosome 10. Linkage analysis showed maximum lod score close to D10S1225 loci, which indicated the loci might contribute to the etiology of Alzheimer＇s disease （AD）. Methods Fifty-nine LOAD patients and 107 controls were recruited. Apolipoprotein E （ApoE） genotypes were determined by reverse dot blotting hybridization assay. The D10S1225 was genotyped by 12% nondenaturing polyacrylamide gels electrophoresis and analyzed by silver staining. Statistical analysis was used to compare genotype and allele distributions between LOAD group and control group for APOE and D10S1225 polymorphisms. Results APOE ε4 was significantly higher in LOAD group in comparison with the control group（X^2=6.530, P=0.011）. Seven different alleles of D10S1225 have been identified. The length of these gene fragments were 178 bp, 181 bp, 184 bp, 187 bp, 190 bp, 193 bp, and 196 bp, respectively. A total of 21 different genotypes were observed. There was no relationship between D10S1225 polymorphism and LOAD （X^2=4.488, P〉0.05）. Conclusion This study suggests that ApoEεA is a risk factor for LOAD, however, the results indicated that there is not any possible linkage for disequilibria with a nearby AD risk gene near D10S1225.