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1.
目的探讨同型半胱氨酸代谢过程的关键酶之一——甲烯四氢叶酸还原酶(MTHFR)基因C677T多态性与早发冠心病发病的关系。方法采用限制性内切酶片段长度多态性方法检测患者的MTHFR基因C677T位碱基突变。结果67例患者中T纯合基因型占34.3%(23/67)、杂合基因型占43.3%(29/67),C纯合基因型占22.4%(15/67);T等位基因频率为55.9%(75/134),C等位基因频率为44.1%(59/134);与正常对照组比较,差异均有显著性意义(P<0.05)。结论MTHFR基因C677T点突变可能是中国人早发冠心病发病的危险因素之一。  相似文献   

2.
目的:探讨上海社区人群亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase,MTHFR)基因多态性与原发性高血压的关系。方法:用聚合酶链反应限制性片段的多态性(polymerasechainreactionrestrictionfragmentlengthpolymorphism,PCRRFLP)技术,检测127例原发性高血压及170例正常对照的MTHFR基因多态性。结果:MTHFR基因第677位核苷酸呈多态性,可分为3种类型:C/C、T/T、C/T。原发性高血压病例组3种基因型频率为:C/C,34.6%;C/T,53.5%;T/T,11.8%。对照组中分别为36.5%;49.4%;14.1%。病例组与对照组T/T基因型频率无显著性差异。结论:在上海社区人群中,MTHFR基因多态性可能不是原发性高血压的危险因素。  相似文献   

3.
目的:采用PCR-RFLP方法检测N^5,N^10-亚甲基四氢叶酸还原酶基因多态性,分析该基因的C677→T突变与心脑血管栓塞的关系。方法:应用一对特异引物进行扩增,扩增片段长度为198bp,再以HimfⅠ酶切,经6%聚丙烯酰胺凝胶电泳分析MTHFR基因型。结果:31例脑梗塞患者中+/+型5例(16.15%),+/-型17例(54.85%),-/-型9例(29.1%);26例心肌梗塞者中+/+型5  相似文献   

4.
冠心病患者血浆同型半胱氨酸的变化及其机制的探讨   总被引:23,自引:0,他引:23  
目的探讨同型半胱氨酸(HCY)及其代谢相关因子和血脂与冠心病发病之间的关系。方法40例经冠状动脉造影术证实为正常或冠心病患者,应用高效液相色谱分析测定血浆HCY,同时测定血浆叶酸、维生素B12浓度及血脂水平,并应用PCR检测N5,N10亚甲基四氢叶酸还原酶(MTHFR)基因型。结果(1)冠心病患者血浆HCY浓度(171±36μmol/L)高于正常对照组(76±12μmol/L),合并有心肌梗死、高血压和有冠心病家族史的患者,其血浆HCY浓度更高;(2)血浆HCY浓度与血浆叶酸、维生素B12浓度呈明显的非线性相关;(3)MTHFR纯合子突变者,血浆HCY浓度高;(4)CHD患者血脂与HCY水平无明显相关。结论高同型半胱氨酸血症是冠心病的新的独立危险因素。  相似文献   

5.
亚甲基四氢叶酸还原酶基因多态性与原发性高血压的关系   总被引:3,自引:0,他引:3  
目的:探讨上海社区人群亚甲基四氢叶酸还原酶基因多态性与原发性高血压的关系。方法:用聚合酶链反应-限制性片段的多态性技术,检测127例原发性高血压及170例正常对照的MTHFR基因多态性。结果:MTHFR基因第677位核苷酸呈多态性,可分为3种类型,C/C,T/T,C/T。原发性高血压病例组3种基因型频率为:C/C,34.6^,C/T,53.5%,T/T,11.8^。对照组中分别为36.5%;49.  相似文献   

6.
目的:探讨 H 型高血压合并冠心病病人亚甲基四氢叶酸还原酶(MTHFR)C677T 基因多态性、血清 同型半胱氨酸(Hcy)与冠状动脉病变的关系。方法:选取 2017-10 ~ 2018-11 期间我院心内科诊断为 H 型高血 压合并冠心病病人 120 例作为试验组,其中合并稳定型心绞痛(SAP)40 例为 A 组,合并不稳定型心绞痛(UAP) 42 例为 B 组,合并急性心肌梗死(AMI)38 例为 C 组,H 型高血压病人 40 例作为对照 D 组,检测 MTHFR C677 T 基因、血清同型半胱氨酸(Hcy),根据冠状动脉造影结果采用 Gensini 评分法评估冠状动脉病变程度。结果:H 型高血压合并冠心病组 Hcy 25.34±9.25μmol / L 较 H 型高血压组16.46±8.12μmol / L 明显增高。TT 型 Hcy 32.14± 12.44μmol / L 较 CT 型23.26±10.27μmol / L、CC 型14.52±8.23μmol / L 明显增高。H 型高血压合并冠心病组 TT 型 (33%)、T 等位基因频率(54%)较 H 型高血压组 TT 型(18%)、T 等位基因频率(40%)明显增高。TT 型 Gensini 评分41.56± 4.48明显高于 CC 型28.42 ± 3.23,有统计学意义(P< 0.05)。B 组 TT 型(36%)、T 等位基因频率 (56%)、C 组 TT 型(37%)、T 等位基因频率(58%)较 A 组 TT 型(28%)、T 等位基因频率(49%)增高,有统计学 意义(P<0.05)。B 组、C 组 TT 型、T 等位基因频率无统计学意义(P>0.05)。结论:H 型高血压合并冠心病组 Hcy 水平、TT 型、T 等位基因频率较 H 型高血压组明显增高。TT 型 Hcy、Gensini 评分明显增高。B 组、C 组 TT 型、T 等位基因频率较 A 组增高,B、C 组 TT 型、T 等位基因频率无统计学意义。  相似文献   

7.
【目的】 探讨孕妇血浆同型半胱氨酸水平(Hcy)、叶酸水平及MTHFR基因多态性与早产的相关性。【方法】 采用病例对照研究,选取440例分娩孕妇为研究对象,其中早产临产孕妇(case group)、同孕周健康孕妇(control group)各220例。用高效液相色谱荧光检测法(HPLC-FD)检测两组孕妇血浆同型半胱氨酸水平和叶酸水平差异;14C 放射法测定两组孕妇MTHFR的活性;Taqman-MGB技术检测两组孕妇MTHFR基因的5个SNP分型差异。【结果】 早产临产孕妇的血浆Hcy 水平(μmol/L)明显高于同孕周健康孕妇的血浆Hcy水平 (7.56 ± 2.97 vs. 5.96 ± 2.54, P = 0.015),而早产临产孕妇的血浆叶酸水平(μmol/L)明显低于同孕周健康孕妇血浆叶酸水平(16.21 ± 2.91 vs. 18.53 ± 3.44, P = 0.002)。早产临产孕妇MTHFR的活性(nmol·mg-1·h-1)明显低于同孕周健康孕妇MTHFR的活性(13.33 ± 3.16 vs. 26.86 ± 5.63, P = 0.000)。在MTHFR基因中rs1801131和rs1801133在早产临产孕妇组与同孕周健康孕妇组的基因型分布差异有统计学意义(P < 0.05)。【结论】 早产儿孕妇血浆同型半胱氨酸水平受叶酸水平影响,并与MTHFR基因SNP分型密切相关。  相似文献   

8.
mthfr基因第1298位核苷酸多态性与酶活性的关系   总被引:4,自引:0,他引:4  
目的:探讨mthfr基因第1298位核苷酸的多态性对酶活性及热稳定性的影响。方法用PCR-RFLP方法检测64全名国女性mthfr基因第1298位核 到,并检测中血淋巴细胞MTHFR酶活性和46℃灭活5min后的歼余酶活性,比较不同基因型其酶活性和热稳定性的差异。结果:第677位核苷酸基因型为677CC时,正常型1298AA平均酶活性最高,为每毫克蛋白每小时12.263nmolCH2O,杂合型12  相似文献   

9.
聚合酶链反应技术在腓骨肌萎缩症基因诊断中的应用   总被引:12,自引:3,他引:9  
目的 探讨应用聚合酶链反应(PGR)技术建立中国人腓骨肌萎缩症(CMT)基因诊断的方法。方法 分别应用PCR-双酶切、聚合酶链反应-单链构象多态性分析(PCR-SSCP)、聚合酶链反应-变性梯度凝胶电泳(PCR-DGGE)或PCR直接测序等方法对32个确诊的CMT家系进行了PMP22、MPZ、Gx32等致病基因的突变检测。结果 21.9%的CMT家系患者有Gx32、MPZ和PMP2基因的突变。PCR-SSCP检测到10个家系有异常泳带,经PCR测序证实有5个为多态;另5个为与疾病相关的致病的点突变,即4个Gx32和1个MPZ基因的点突变。PCR-双酶切诊断了2个包含PMP22基因在内的大片段重复突变的CMT1A型家系。PCR-DGGE仅1个家系患者异常泳带,该结果也可经PCR-SSCR方法检出。结论 PCR-SSCP和PCR-双酶切可作为Gx32、MPZ、PMP22基因的点突变和CMT1A的大片段重复突变的初筛的方法,而PCR-DGGE方法用于Gx32基因的突变检测不理想,点突变应经DNA测序证实。  相似文献   

10.
情感性障碍与单胺氧化酶基因的遗传关联性分析   总被引:5,自引:0,他引:5  
目的 探讨单胺氧化酶(MAOA)和MAOB型基因多态性与情感性障碍(双相型和单相型)间的遗传关联性。方法 应用聚合酶链反应(PCR)扩增片段长度多态性(Amp-FLP)研究132例情感性障碍患者的MAOA(CA)N,MAOB(GT)n和MAOB(TG)n基因座的基因型分布。结果 在132例患者中观察到MAOA(CA)n,MAOB(GT)n和MAOB(TG)n基因座的等位基因数目分别为8,12和9个  相似文献   

11.
目的:研究人MTHFR、CBS基因多态性与青年缺血性脑卒中的遗传关联性。方法:采用限制性内切酶片段长度多态性方法(PCR-RFLP),对98例脑卒中患者(病例组)和116例健康人(对照组)MTHFR C677T及CBS844ins68多态性位点进行检测。结果:病例组MTHFR基因T、C等位基因频率分别为54.09%和45.91%,对照组为37.93%和62.07%,两组比较差异有显著性(P<0.05)。TT型携带者与CC型携带者罹患脑卒中比较相对危险度为2.83,T等位基因携带者与C等位基因携带者罹患脑卒中比较相对危险度为1.93。CBS844ins68多态性位点在病例组与对照组之间D/I 2种等位基因及基因型分布频率差异无显著性(P>0.05)。Logistic回归分析显示MTHFRC677T是青年缺血性脑卒中的一个独立危险因子,且吸烟及高血压也与之有关联(P<0.01)。结论:汉族人群MTHFR C677T位点多态性与青年缺血性脑卒中有相关性,MTHFR基因可能是青年缺血性脑卒中的一个易感基因。CBS844ins68多态性位点与青年缺血性脑卒中无关联。  相似文献   

12.
目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸水平与2型糖尿病患者合并冠心病的关系。方法:运用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)检测228例2型糖尿病患者(其中126例伴冠心病)及114例正常对照组MTHFRC677T基因型,采用高效液相色谱法测定血浆同型半胱氨酸水平。结果:在114例正常对照组中突变T等位基因频率为38.0%,与中国香港地区人群T等位基因频率(33.0%)相似。糖尿病组MTHFR基因型频率分布与正常对照组相比差异无统计学意义(χ2=3.67,P>0.05)。糖尿病伴冠心病组MTHFRT等位基因频率(45.2%)明显高于糖尿病不伴冠心病组(30.4%),基因型和等位基因频率分布差异均有统计学意义(分别为χ2=11.98,P<0.01;χ2=8.72,P<0.01),T等位基因与糖尿病并发冠心病密切相关(OR=1.89,95%CI:1.24-2.88))。糖尿病伴冠心病组、糖尿病不伴冠心病组及正常对照组中,MTH-FR基因有C677T突变者血浆同型半胱氨酸水平均显著高于无基因突变者。结论:MTHFR基因C677T位碱基突变致血浆同型半胱氨酸水平升高可能是糖尿病并发冠心病的重要遗传因素。  相似文献   

13.
Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus (T2DM). Previous researches report that methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms might influence the occurrence of coronary heart disease (CHD) in T2DM patients. The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD in T2DM patients. Methods A total of 197 subjects with T2DM were studied, of which 95 patients with CHD. The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method, and compared between patients with CHD and those without CHD. Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD (P=0.011). However, there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD. Furthermore, the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine (Hcy) levels (≤15 μmol/L) (P=0.006), while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hcy levels (>15 μmol/L) (P=0.491). Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hcy levels.  相似文献   

14.
目的:探讨N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与冠心病(CHD)的相关性.方法:应用PCR-限制性片断长度多态性(RFLP)技术,检测208例CHD患者和500名健康人(正常组)MTHFR C677T基因多态.结果:MTHFR基因第677位存在2种等位基因(C和T)、3种基因型(C/C、C/T、T/T).CHD组C/C、C/T、T/T 3种基因型频率分别为15.4%、45.7%、38.9%,T等位基因频率为61.8%,C等位基因频率为38.2%;正常组C/C、C/T、T/T型频率分别为35.6%、44.0%、20.4%,T等位基因频率为42.4%,C等位基因频率为57.6%.CHD组T/T型及T等位基因频率均高于对照组(P<0.05).结论:MTHFR基因C677T多态性可能与河南汉族人群CHD的发生有关.  相似文献   

15.
OBJECTIVE: To investigate the relationship of plasma homocysteine (Hcy) levels and the gene polymorphisms of N5, N10-methylenetetrahydrofolate reductase (MTHFR), cystathionine beta-synthase (CBS) with Alzheimer's disease (AD). METHODS: Plasma Hcy levels were measured by means of high voltage capillary electrophoresis with ultra-violet detection, the polymorphisms of C677T in exon 4 of MTHFR gene and 844ins68 in exon 8 of CBS gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 105 AD patients and 102 non-AD controls. All controls were excluded from cardiocerebrovascular disorders and other diseases. RESULTS: The plasma Hcy level in AD patients (16.04 +/- 3.84 micromol/L) was significantly higher than that in the controls (11.94 +/- 3.87 micromol/L, P < 0.001). There were no significant differences of the genotype and allele frequencies of MTHFR C677T mutation and CBS 844ins68 mutation between the patients and controls. However, the T allele of MTHFR gene was found to relate with the plasma Hcy level increase in all subjects. CONCLUSION: The elevated plasma Hcy level in AD patients is probably involved in the pathogenesis of AD, which may be due to the environmental factor rather than genetic factors of the mutations of MTHFR and CBS.  相似文献   

16.
MTHFR基因多态性与脑卒中的关系   总被引:1,自引:1,他引:0  
目的 :研究人体 N5 ,N1 0亚甲基四氢叶酸还原酶 ( MTHFR)的基因多态性与脑卒中的遗传相关性。方法 :采用限制性内切酶片段长度多态性方法 ( PCR- RFLP) ,对 1 1 8例脑卒中患者和1 39例健康人 MTHFR基因 C677T多态性位点进行检测。结果 :病例组 MTHFR基因 T等位基因频率为 5 0 .4%,C等位基因频率为 49.6%;对照组 T等位基因频率为 40 .6%,C等位基因频率为5 9.4%;差异有显著性 ( P<0 .0 5 )。出血性卒中 T等位基因频率为 41 .4%,C等位基因频率为5 8.6%;缺血性卒中 T等位基因频率为 5 4 .2 %,C等位基因频率为 45 .8%;无明显差异。结论 :脑卒中汉族人群 MTHFR基因 C677T突变等位基因频率与健康人群存在差异 ;出血性脑卒中患者与缺血性脑卒中患者之间 ,基因型及等位基因频率均无明显差异。表明 MTHFR基因 C677T突变位点多态性与脑卒中有相关性 ,MTHFR基因可能是脑卒中的一个易感基因  相似文献   

17.
BACKGROUND: Essential hypertension (EH) and cardiovascular disease are common, multifactorial disorders likely to be influenced by multiple genes of modest effect. The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is related to MTHFR enzyme activity and to plasma homocysteine (Hcy) concentration. This study was designed to investigate an association of this polymorphism with coronary artery disease (CAD), EH, and healthy subjects. METHODS: In this study, we measured serum folate, serum vitamin B12, and plasma homocysteine and determined the MTHFR C677T genotype of 78 patients with essential hypertension, 100 patients with coronary artery disease, and 100 healthy subjects. MTHFR genotypes were assessed by real-time polymerase chain reaction. RESULTS: CC, CT, and TT genotype frequencies were 52, 44.0, and 4.0% in patients with CAD, respectively. In patients with essential hypertension, the CC, CT, and TT genotype frequencies were 46.2, 41.0, and 12.8%, respectively. In control subjects, the CC, CT, and TT genotype frequencies were 72.0, 26.0, and 2.0%, respectively. The C allele was significantly more frequent in controls compared with patients with EH (p<0.05), and CC genotypes were more frequent in controls compared to patients with EH and CAD. Homocysteine level was higher in TT genotypes in CAD patients compared with CC and CT genotypes (p<0.01). MTHFR gene polymorphism is an independent risk factor for EH but not for CAD. CONCLUSIONS: The TT genotype of the 677C/T MTHFR polymorphism is associated with EH and CAD. In addition, TT genotypes had higher plasma Hcy levels in CAD patients compared with CC and CT genotypes. MTHFR gene polymorphism is an independent risk factor for EH but not for CAD.  相似文献   

18.
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)C677T多态性与抑郁症及症状表型的相关性.方法采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)研究100例抑郁症患者及100例对照组正常人的MTHFR基因的多态性分布;采用汉密尔顿抑郁量表(HAMD)评定症状表型.结果抑郁症患者组TT型、TC型、CC型基因频率分布及T、C等位基因频率分布与对照组比较差异有显著性(χ2=8.72,P<0.05;χ2=8.62,P<0.05).按性别分层后,男性抑郁症组TT基因型的频率(25.0%)明显高于对照组(6.3%),而CC基因型的频率(25.0%)显著低于对照组(55.3%)(P<0.05);患者组中症状表型在3种基因型间分布差异无显著性(P>0.05).结论 MTHF C677T基因的多态性与抑郁症发病相关,其相关性受性别影响,而与症状表型间无明显的关联.  相似文献   

19.
HOMOCYSTEINE (Hcy), one of the thiol-contain-ing amino acids, is generated from the demethyla-tion of methionine and in very low level in thehuman body. A lot of studies indicate that elevated plasmaHcy level has been recognized as an independent risk factorfor the atherosclerotic events.1 Recently, many attentionshave been paid to the association of Hcy with the dev-elopment of Alzheimer's disease (AD) and other neuro-degeneration disorders.2 Therefore, in this present study weinvestig…  相似文献   

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