人纤维蛋白原G／A—455（FGB）基因多态性与动态粥样硬化血栓 …

应用ＰＣＲ限制性内切酶技术,检测了３０例冠状动脉粥样硬化性心脏病（ＣＨＤ）患者,２０例原发性高血压（ＥＨ）患者及２１例健康成人Ｇ／Ａ－４５５（ＦＧＢ）基因多态性,采用自动化检测系统示在浆纤维蛋白原（Ｆｇ）浓度及Ｆｇ分子功能参数。结果显示,血浆Ｆｇ浓度升高及Ｆｇ分子功能增强都是ＣＨＤ的危险因素,Ｇ／Ａ－４５５基因多性与血浆Ｆｇ浓度、Ｆｇ分子功能及ＣＨＤ、ＥＨ的发病均无显著相关性。     

冠心病心血瘀阻证与血液纤溶酶原激活物抑制剂-1基因的关系

目的：探讨冠心病心血瘀阻证与纤溶酶原激活物抑制剂－1（PAI－1）基因启动子区4G／5G多态性的关系。方法：把36例冠心病患者分为两组：心血瘀阻证组与非心血瘀阻证组，另外收集16例健康者作为正常对照组。分别测定各组病例的PAI－1启动子区4G／5G基因型，同时测定血浆PAI－1活性、血脂、血糖及凝血功能等指标。结果与结论：心血瘀阻证患者4G／4G基因型（50．00％）高于正常对照组（31．25％）及非心血瘀阻证组（25．00％），提示PAI－1基因4G／4G多态性可能与冠心病心血瘀阻证相关，结论有待于进一步扩大样本量证实。还发现血浆PAI－1活性、纤维蛋白原与PAI－1基因4G／5G多态性相关，提示PAI－1活性升高与纤维蛋白原增高是PAI－1启动子区4G／5G基因型易致冠心病心血瘀阻证的可能机制。     

β-fibrinogen gene -455A/Gpolymorphism and plasma fibrinogen level in Chinese stroke patients

目的　初步探讨β 纤维蛋白原基因启动子区 4 5 5A/G多态性和血浆纤维蛋白原水平的关系以及在缺血性脑血管病中的意义。方法　 91例脑梗死患者 (6 3 5± 10 1岁 )、74例无血栓老年对照组 (6 0 6± 10 8岁 )和 98例年轻对照组 (健康献血员 ) (37 5± 13 3岁 )。PCR RFLP (HaeⅢ )法分析 β 纤维蛋白原基因启动子区 4 5 5A/G多态性 ;血浆纤维蛋白原水平测定使用PT时间法。计量资料间比较使用t检验 ,由于纤维蛋白原浓度呈非正态分布 ,故检验前作对数转化 ;计数资料使用卡方检验。结果　H2等位基因频率在男性脑梗死组明显较老年对照组高 (2 2 7%和 7 1%,χ2 =5 5 6 ,P <0 0 2 ) ,在女性组中无统计学差异 ;在无血栓的所有人群中 (包括老年对照组和年轻对照组 ) ,H2等位基因频率随年龄增长的分布频率是 :≤ 4 0岁 ,2 1 3%;4 1- 5 9岁 ,15 4 %;≥ 6 0岁 ,10 2 %;男性老年和年轻对照组中 ,H1H1基因型人群血浆纤维蛋白原水平 (2 87± 96和 2 34± 5 8mg/dl)明显较H1H2 H2H2型 (331± 4 4和 30 7± 5 5mg/dl;t =2 5 3和 9 6 7,P <0 0 5 )低。在女性对照组中尚未发现同样现象。结论　男性人群血浆纤维蛋白原水平受β 纤维蛋白原基因启动子区 4 5 5A/G多态性的影响 ,H2等位基因可能     

冠心病患者血浆纤维蛋白原β-148C/T 基因多态性的研究

为研究β纤维蛋白原基因启动子区 Hind β多态性和血浆纤维蛋白原浓度与冠心病之间的关系。对确诊的冠心病患者 5 6例 ,健康对照组 4 4例 ,采用酚 /氯仿抽提方法从白细胞中提取人基因组 DNA ,经多聚酶链式反应(PCR)加 Hind 内切酶技术检测目的基因片段 ,采用自动化检测系统求出血浆纤维蛋白原 (Fg)浓度。结果发现 :冠心病患者βHind 多态性与血浆纤维蛋白原浓度间存在显著正相关 (r=0 .7,P<0 .0 0 1) ,以非βHind 酶切位点缺失的CT、 CC基因型血浆纤维蛋白原浓度明显增高 (P<0 .0 1)。提示 :β Hind 多态性可能是冠心病患者动脉血栓形成的主要原因之一     

纤维蛋白原β—148C／T基因多态性与血浆纤维蛋白原关系的研究

目的：调查156例广东汉族健康人纤维蛋白原（Fg)β-148C/T基因多态性频率分布情况，分析Fgβ－148C／T基因多态性与血浆Fg水平的关系。方法：分别用PCR－RFLPs方法及比浊法检测Fg基因多态性及血浆Fg水平。结果：等位基因T^-148频率为0.285，携带T^-148基因组血浆Fg水平高于野生型组（P＜0．05）。结论：携带T^-148基因较不携带者血浆Fg水平高，提示Fg β－148C／T基因多态性与血浆Fg水平相关。     

缺血性心脏病与β-纤维蛋白原基因bcl-Ⅰ多态性和血浆纤维蛋白原水平的关系

目的:探讨β纤维蛋白原基因bcl-Ⅰ多态性与血浆纤维蛋白原水平及缺血性心脏病发病机制的关系.方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对57例心肌梗塞组和50例健康对照组进行β-纤维蛋白原基因bcl-Ⅰ多态性分析;采用组织凝血活酶法测定血浆纤维蛋白原水平.结果:酶切后可见在2 500 bp和1 100 bp 1 400 bp碱基对位置分别发现2个等位基因B1和B2.携带B1等位基因心肌梗塞患者血浆纤维蛋白原水平(3.28±0.94)g·L-1明显高于健康对照组(2.74±0.54)g·L-1(P＜0.05),携带B2等位基因心肌梗塞患者血浆纤维蛋白原水平(3.97±1.02)g·L-1明显高于健康对照组(3.25±0.61)g·L-1(P＜0.05);B2等位基因频率明显增高(P＜0.05);B2基因携带者血浆纤维蛋白原水平明显高于同组内B1基因携带者血浆纤维蛋白原水平(P＜0.05).结论:血浆纤维蛋白原水平升高与心肌梗塞有关联;β-纤维蛋白原基因bcl-Ⅰ多态性与血浆纤维蛋白原水平及心肌梗塞有关联,β-纤维蛋白原基因bcl-Ⅰ多态性可能是缺血性心脏病危险因素及遗传易感标志之一.     

缺血性心脏病与β-纤维蛋白原基因bcl-I多态性和血浆纤维蛋白原水平的关系

目的:探讨β纤维蛋白原基因bcl-I多态性与血浆纤维蛋白原水平及缺血性心脏病发病机制的关系。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对57例心肌梗塞组和50例健康对照组进行β-纤维蛋白原基因bcl-I多态性分析;采用组织凝血活酶法测定血浆纤维蛋白原水平。结果:酶切后可见在2 500 bp和1 100 bp+1 400 bp碱基对位置分别发现2个等位基因B1和B2。携带B1等位基因心肌梗塞患者血浆纤维蛋白原水平(3.28±0.94)g.L-1明显高于健康对照组(2.74±0.54)g.L-1(P<0.05),携带B2等位基因心肌梗塞患者血浆纤维蛋白原水平(3.97±1.02)g.L-1明显高于健康对照组(3.25±0.61)g.L-1(P<0.05);B2等位基因频率明显增高(P<0.05);B2基因携带者血浆纤维蛋白原水平明显高于同组内B1基因携带者血浆纤维蛋白原水平(P<0.05)。结论:血浆纤维蛋白原水平升高与心肌梗塞有关联;β-纤维蛋白原基因bcl-I多态性与血浆纤维蛋白原水平及心肌梗塞有关联,β-纤维蛋白原基因bcl-I多态性可能是缺血性心脏病危险因素及遗传易感标志之一。     

缺血性心脏病与β-纤维蛋白原基因bcl-I多态性和血浆纤维蛋白原水平的关系

目的：探讨β纤维蛋白原基因bcl-I多态性与血浆纤维蛋白原水平及缺血性心脏病发病机制的关系。方法：应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对57例心肌梗塞组和50例健康对照组进行β-纤维蛋白原基因bcl-I多态性分析；采用组织凝血活酶法测定血浆纤维蛋白原水平。结果：酶切后可见在2 500 bp和1 100 bp+1 400 bp碱基对位置分别发现2个等位基因B1和B2。携带B1等位基因心肌梗塞患者血浆纤维蛋白原水平（3.28±0.94）g·L^-1明显高于健康对照组（2.74±0.54）g·L^-1（P<0.05），携带B2等位基因心肌梗塞患者血浆纤维蛋白原水平（3.97±1.02）g·L^-1明显高于健康对照组（3.25±0.61）g·L^-1（P<0.05）；B2等位基因频率明显增高（P<0.05）；B2基因携带者血浆纤维蛋白原水平明显高于同组内B1基因携带者血浆纤维蛋白原水平（P<0.05）。结论：血浆纤维蛋白原水平升高与心肌梗塞有关联；β-纤维蛋白原基因bcl-I多态性与血浆纤维蛋白原水平及心肌梗塞有关联，β-纤维蛋白原基因bcl-I多态性可能是缺血性心脏病危险因素及遗传易感标志之一。     

IgE高亲和力受体β链基因的多态性与中国人哮喘易感性的研究

目的 探讨ＩｇＥ高亲和力体β链基因（ＦｃεＲＩ－β）的多态性与中国人哮喘易感性的连锁关系。方法 用ＰＣＲ／ＲＦＬＰ检测ＦｃεＲＩ－β基因编码区Ｅ２３７Ｇ变异位点及非编码区的２个多态性位点，对３２个哮喘家系共１９２份样品以及１２２例哮喘患儿进行分析。结果 （１）中国人在这３个位点的等位基因频率与白种人及日本人明显不同。（２）哮喘家系样本显示，第２内含子区多态位点的Ａ等位片段与哮喘有显著相关性（Ｐ〈０     

汉族人AGT基因5'-调控区序列分析

目的分析汉族人血管紧张素原（ａｎｇｉｏｔｅｎｓｉｏｎｇｅｎ,ＡＧＴ）基因５′－调控区多态性及其与原发性高血压的关联。方法应用ＰＣＲ产物单链构象的多态性分析（ＰＣＲ－ＳＳＣＰ）和ＰＣＲ直接测序方法,鉴定１００例高血压患者和５０例正常血压对照者的血管紧张素原基因５′－调控区－１５５至＋２５ｂｐ核酸序列。结果（１）汉族人ＡＧＴ基因５′－调控区－２０位是腺嘌呤核苷酸（Ａ）,而白种人该位是胞嘧啶核苷酸（Ｃ）,这可能与种族相关联;（２）原发性高血压患者和正常血压对照者ＡＧＴ基因５′－调控区－４６位均存在Ｔ→Ａ单个碱基突变,但两组Ｔ→Ａ基因突变频率间差异无统计学意义。结论ＡＧＴ基因５′－调控区－４６位Ｔ→Ａ单个碱基突变与汉族原发性高血压不相关联,但ＡＧＴ基因５′－调控区－２０位为腺嘌呤核苷酸（Ａ）可能是汉族人的重要遗传标志之一。     

β-FIBRINOGEN PROMOTER-455 G／A （HaeⅢ） POLYMORPHISM PREDICTION OF PLASMA FIBRINOGEN BUT NOT OF ISCHEMIC CEREBROVASCULAR DISEASE

Objective The-455 G/A (HaeⅢ) polymorphism of β-fibrinogen gene influences levels of plasma fibrinogen. We further investigated whether it influences the risk of isehemie cerebrovaseular disease. Methods We accumulated 134 acute isehemic eerebrovaseular disease (ICVD) eases and compared their -455 G/A status with a control group (n=166). The β-fibrinogen gene -455 G/A polymorphism was analyzed for all subjects by PCR-RFLP with the restrictive enzyme HaeⅢ. Results Plasma fibrinogen was higher in AA homozygous participants (341mg/dL) than in participants carrying the G allele: GA (290mg/dL), GG (298mg/dL) in the control group. Plasma fibrinogen was also higher in AA homozygous patients (353mg/dL) than in eases carrying the G allele: GA (287mg/dL), GG (302mg/dL) in the ICVD group. However, there was no significant association between β-fibrinogen gene -455 G/A polymorphism and ICVD group. Conclusions Although a small effect cannot be excluded, β-fibrinogen gene -455 G/A polymorphism is an independent predictor of plasma fibrinogen, but not of isehemie cerebrovaacular disease.     

A Meta-analysis of β-fibrinogen Gene-455G/A Polymorphism and Plasma Fibrinogen Level in Chinese Cerebral Infarction Patients

Objective To evaluate the correlation between the β-fibrinogen gene-455G/A polymorphism and cerebral infarction in Chinese population by means of meta-analysis. Methods Genetic association studies on evaluating the β-fibrinogen gene -455G/A polymorphism and cerebral infarction involving Chinese population published before December 2005 were collected from database of PubMed, EMBASE, and CNKI. All the data in literature were abstracted based on the defined selection criteria by two independent investigators. Publication bias was tested by funnel plot and the odd ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis. Results Eleven studies including 1405 patients and 1600 controls met the selection criteria. There was no publication bias in 11 reviewed studies. Heterogeneity test of reviewed studies showed statistically significant differences (χ2=24.58, P=0.006) among the ORs of individual studies. The combined OR of 11 studies of susceptibility to cerebral infarction in –455A allele carriers compared with the -455G/G wild homozygotes was 1.33 (95%CI 1.04-1.71, P=0.02). In the patients with cerebral infarction in 6 studies, the summarized average plasma fibrinogen level of allele A carrier was 0.29 g/L (95%CI 0.14-0.44, P=0.0002) higher than that of -455G/G homozygous ones. Conclusions β-fibrinogen gene -455G/A polymorphism might contribute to susceptibility of cerebral infarction in Chinese population; allele A increases the individual susceptibility to the disease.     

A meta-analysis of relationship between β-fibrinogen gene -148C/T polymorphism and susceptibility to cerebral infarction in Han Chinese

Objective The results of studies on association between -148C/T polymorphism in promoter region of β-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the β-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis. Results Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (χ(2)=17.82, P=0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95%CI 1.12 to 1.55, P=0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95%CI 0.29 to 0.54, P&lt;0.001), higher than that of -148C/C homozygous ones. Conclusions β-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on β-fibrinogen polymorphisms and cerebral infarction with large sample size are required.     

肿瘤坏死因子-α基因多态性在重症急性胰腺炎患者中的意义

目的　观察肿瘤坏死因子 (TNF α)基因启动子区域中 - 30 8基因多态性即TNF2及外周血浆TNF α、TNF受体浓度与重症急性胰腺炎 (ASP)及其并发症———严重脓毒症之间的关系。方法　本研究组包括 72例ASP患者和 74个正常人 ,采用聚合酶链反应 (PCR)、NcoI消化及电泳技术检测其多态性。ASP患者血浆TNF α、可溶TNF受体 (sTNF RⅠ和sTNF RⅡ )浓度检测用EASIA法。结果　(1)TNF2出现的频率在ASP组为 2 1例 (2 9 2 % ) ,对照组为 19例 (2 5 7% ) ,两组差异无显著意义 (P>0 0 5 )。ASP组有 2 6例并发严重脓毒症 ,TNF2出现频率 12例 (46 2 % ) ;而无严重脓毒症组为 9例(19 6 % )。TNF2出现的频率在严重脓毒症组显著高于无并发严重脓毒症组 (P <0 0 5 )。 (2 )在严重脓毒症组 ,血浆基础TNF α、sTNF RⅠ和sTNF RⅡ浓度分别为 36± 30 (ng/L)、5 4± 3 5、11 2± 7 9(μg/L) ,无并发严重脓毒症病人分别为 30± 2 5 (ng/L) ,4 6± 3 8、8 8± 6 6 (ng/L) ,两组比较差异均无显著意义 (P >0 0 5 )。 (3)重症胰腺炎患者中 ,TNF2组血浆基础TNF α浓度为 37± 31(ng/L) ,TNF1组为 31± 2 5 (ng/L) ,两组差异无显著意义 (P >0 0 5 )。结论　TNF2与ASP的发生无关 ,但与其导致的严重脓毒症的易感性有关。血浆基础T     

白细胞介素6基因型及血清水平与食管癌的相关性研究

目的了解食管癌患者白细胞介素6（IL-6）基因启动子-572C／G、-634C／G的多态性,探讨IL-6的基因型及其血清水平与食管癌的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法,检测118例食管癌患者和130例健康对照者IL-6基因多态性,同时采用酶联免疫吸附试验检测IL-6的血清水平。结果IL-6-634C／G基因型和等位基因频率在食管癌组和对照组比较,差异有统计学意义（均P〈0．05）;与对照组相比,G等位基因携带者患食管癌的相对风险是C等位基因的1．759倍（OR=1．759,95％可信区间为1．150～2．691）。食管癌组IL-6水平显著高于对照组（16．9ng／L±5．3ng／L vs 4．6ng／L±2．6ng／L,P〈0．01）,携带G等位基因的食管癌患者血清IL-6水平显著高于不携带者（18．8ng／L±6．1ng／L vs 13．2ng／L±6．0ng／L,P〈0．01）。IL-6基因-572C／G多态性在食管癌组和对照组间比较差异元统计学意义（P〉0．05）。结论IL-6基因-634C／G多态性与食管癌之间可能存在相关关系;携带G等位基因的个体可能通过促进IL石的高度表达进而增加了食管癌的发病风险。     

利用荧光定量PCR研究载脂蛋白C Ⅲ基因多态性与冠心病的相关性

目的分析探讨人载脂蛋白CⅢ（ApoCⅢ）基因多态性与脂代谢异常和冠心病的相关性。方法以400名健康献血者和360例冠心病患者为研究对象,经静脉采血后进行血生化检测和提取全血DNA,通过荧光实时定量PCR（FQ—PCR）,同时分析载脂蛋白CⅢ-625和-455位点变异与冠心病、血脂的关系。结果冠心病组载脂蛋白CⅢ-455C纯合子基因型（101例,70．1％）,明显高于对照组（85例,53．1％）,-625del-455c基因型（49．3％）显著高于对照组（41例,25．6％）。单纯高脂血症组和高脂血症并发冠心病组,载脂蛋白CⅢ-455C基因表达比较高。单纯冠心病组的载脂蛋白CⅢ-455c基因表达与正常组间差异无统计学意义。结论载脂蛋白CⅢ-455C基因与冠心病风险呈正相关,-455C纯合子基因型携带者具有冠心病的高风险。载脂蛋白CⅢ-625（del）与-455（C）有协同增加冠心病风险的作用。     

CORRELATION BETWEEN FIBRINOGEN LEVEL AND CEREBRAL INFARCTION

FIBRINOGEN,a340-kDa protein synthesized inthe liver,is the precursor of fibrin and an acutephase reactant.As an important factor of thethrombotic waterfall and marker of inflammation,fibrino-gen was believed to be correlated with thromboembolic dis-ease.1…     

TIMP-2基因-418G/C多态性与房颤性脑梗死的关系研究

目的 心房颤动引起的梗死是目前缺血性卒中患者高死亡率的主要原因之一,基于基质金属蛋白酶抑制因子(TIMP)在房颤心肌维化过程中重要作用,本文探讨了TIMP-2基因启动子-418G/C多态性与房颤引起脑梗死的关系。方法 采用聚合酶链反应-限制性片段长多态性法对2016年1月—2018年6月浙江省台州医院神经内科首次因房颤性脑梗死住院患者204例(观察组)及非心源性脑梗死248例(对照组)进行TIMP-2基因启动子区-418G/C多态性检测,并对2组患者的一般情况及基因型、等位基因等进行比较。结果 观察组和对照组性别、年龄、吸烟、饮酒、入院时收缩压及舒张压、空腹血糖、甘油三酯、总胆固醇、低密度脂蛋白胆固醇、纤维蛋白原、同型半胱氨酸等差异均无统计学意义(均P>0.05)。观察组GC+CC基因型共94例(46.1%),对照组GC+CC基因型共90例(36.3%),2组比较差异有统计学意义(P=0.043,95%CI:1.017～1.585),观察组C等位基因115例(28.2%),与对照组[106例(21.4%)]比较差异有统计学意义(P=0.020,95%CI:1.049～1.658)...     

Risk factors & clinical presentations--a study of eighty-five hospital admitted stroke cases

Stroke is the commonest neurological cause of morbidity and mortality. Changes in risk factors may influence stroke incidence. Definitive diagnosis of the type of stroke is necessary for management and it has a strong impact on stroke outcome. A total of eighty-five consecutive stroke patients irrespective of age and sex admitted during the period of August 2000 to June 2001 were studied. They were asked about occupation, area of habitat, smoking habit, family history of ischaemic heart disease and/or stroke, any febrile illness, recent history of productive cough, dysuria and diarrhoea. They were searched for hypertension, diabetes mellitus, ischaemic heart disease, valvular heart disease and dislipidaemia. In every patient complete blood count, urine examination, fasting blood glucose and serum lipids, ECG, x-ray chest were performed. CT scan of brain was performed in 68 cases. Male was found 81.18% of cases with age 62.54 +/- 13.08 (m +/- SD) years. Female were 18.82% of cases with age 58.81 +/- 12.77 (m +/- SD). 75.29% of patients were belongs to middle class family. 51.76% of patients came from rural area and 48.24% of patients came from urban area. 78.82% of patients were hypertensive. Infection was associated with 37.65% of cases. Hemiplegia was commonest presentation (88.24%). Though altered consciousness was found more in haemorrhagic stroke (54.84%) but it was not significantly. High from ischaemic cases (p > 0.10) Male suffer more from stroke. Hypertension is the commonest risk factor. Infection is a common association of stroke. Altered consciousness is not a reliable guide to differentiate between ischaemic and haemorrhagic stroke is hospitalized cases.