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1.
亚甲基四氢叶酸还原酶基因(C677T)多态性研究进展   总被引:3,自引:0,他引:3  
亚甲基四氢叶酸还原酶(methylenetrahydrofolate reductase,MTHFR)在叶酸和同型半胱氨酸代谢,DNA甲基化和DNA合成等方面起重要作用,MTHFR基因突变引起酶耐热性和活性降低,导致DNA结构和相应代谢异常,引起疾病发生,MTHFR有多种突变类型,本对MTHFRC677T多态性及其与疾病关系的研究进行了综述。  相似文献   

2.
目的 研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T突变与中国人深静脉血栓形成的关系。方法 采用聚合酶链反应-限制性片段长度多态性方法对山东汉族63例深静脉血栓形成患者和80名正常对照进行了MTHFR基因C677T突变检测,计算患者组与对照组的基因型频率,以及该突变与深静脉血栓形成的相关性。结果 患者组与对照组C/T杂合子频率分别为41.27%和43.75%;T/T纯合子频率分别为52.38%和36.25%。患者组突变频率较高(x^2=6.372,P<0.01,ORT/T=4.552,95%可信区间:1.440-14.398;x^2=6.742,P=0.009)。结论 MTHFR基因C677T突变与山东汉族人群深静脉血栓形成有相关性。  相似文献   

3.
亚甲基四氢叶酸还原酶基因677C→T突变与糖尿病微血管病   总被引:2,自引:0,他引:2  
目的 研究中国人群2型糖尿病患者中,亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因677C→T突变与糖尿病微血管病的关系。方法 将168名研究对象分为正常对照组、糖尿病和糖尿病微血管病(diabetic microangiopathy,DMA)组,采用PCR-RFLP检测各组MTHFR677C→T突变,统计各组对象的突变频率。结果 与无糖尿病微血管病患者和正常人相比,糖尿病微血管病患者MTHFR677C→T(T/T基因型)变频率更高(22.6%vs6.7%和5.5%,P<0.01),MTHFRT/T基因型对MDA的OR值为3.36,P<0.001。结论 糖尿病患者中MTHFR677C→T突变为其发生微血管病的一种遗传易感因素。  相似文献   

4.
亚甲基四氢叶酸还原酶基因(C677T)多态性研究进展   总被引:4,自引:0,他引:4  
亚甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)在叶酸和同型半胱氨酸代谢、DNA甲基化和 DNA合成等方面起重要作用。 MTHFR基因突变引起酶耐热性和活性降低 ,导致 DNA结构和相应代谢异常 ,引起疾病发生。MTHFR有多种突变类型。本文对 MTHFR C6 77T多态性及其与疾病关系的研究进行了综述  相似文献   

5.
亚甲基四氢叶酸还原酶基因C677T突变与冠心病的连锁分析   总被引:10,自引:0,他引:10  
目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase, MTHFR)基因C677T突变是否与冠心病连锁。方法应用传递不平衡检验(transmission/disequilibrium test, TDT)分析了先证者一级亲属中至少有1例冠心病患者的冠心病家系45个,调查了212人。其中完整核心家系、父母一方、双方基因型缺失家系分别为21、2和22个。PCR-RFLP鉴定MTHFR基因C677T位点基因型。结果 23个核心家系经经典TDT分析,杂合子父母传递给患病子女的T等位基因频率未显著偏离50%(P>0.05);对40个符号要求的同胞组资料的同胞传递不平衡检验(sib transmission/desequilibrium test, STDT)和同胞组不平衡检验(sibship disequilibruium test, SDT)检验均未发现受累子代与非受累子代T等位基因分布差异有显著性(P>0.05)。结论 MTHFR基因C677T突变与冠心病不连锁,提示该位点可能不是中国人冠心病的遗传易患因子之一。  相似文献   

6.
目的探讨广东地区汉族妇女亚甲基四氢叶酸还原酶基因多态性与习惯性流产关系.方法采用多聚酶链式反应限制性片段长度多态分析(PCR-RFLP)的方法,对50例习惯性流产和56例正常对照的广东地区汉族妇女进行MTHFR677C→T突变检测.结果习惯性流产组与正常对照组之间基因型的分布有显著差异:χ2=11.07,p<0.05;但两组间等位基因突变频率无显著差异:χ2=2.06,p>0.05.流产组677C→T突变纯合子(24.0%)较对照组((7.1%)明显升高.等位基因突变频率流产组(26.0%)较对照组(17.9%)升高.结论 MTHFR 677C→T纯合子突变与习惯性流产有明确的相关关系.  相似文献   

7.
亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase, MTHFR)在叶酸和同型半胱氨酸代谢、DNA甲基化和DNA合成等方面起重要作用。MTHFR基因突变造成酶活性和耐热性降低,导致高半胱氨酸血症和DNA结构异常,从而影响多种疾病的发生。现已发现MTHFR基因多态性与心脑血管疾病、出生缺陷和一些肿瘤等多种疾病存在相关性。  相似文献   

8.
亚甲基四氢叶酸还原酶基因多态性及临床意义   总被引:1,自引:0,他引:1  
亚甲基四氢叶酸还原酶基因多态性特别是677 C→T突变可导致MTHFR酶活性下降,使 血浆同型半胱氨酸增高及DNA低甲基化,被认为与多种疾病有关,本文就近年来的有关研究作一综 述。  相似文献   

9.
亚甲基四氢叶酸还原酶基因多态性与习惯性流产关系研究   总被引:1,自引:0,他引:1  
目的 探讨广东地区汉族妇女亚甲基四氢叶酸还原酶基因多态性与习惯性流产关系 .方法 采用多聚酶链式反应限制性片段长度多态分析 (PCR -RFLP)的方法 ,对 5 0例习惯性流产和 5 6例正常对照的广东地区汉族妇女进行MTHFR6 77C→T突变检测 .结果 习惯性流产组与正常对照组之间基因型的分布有显著差异 :χ2 =11.0 7,p<0 .0 5 ;但两组间等位基因突变频率无显著差异 :χ2 =2 .0 6 ,p>0 .0 5 .流产组 6 77C→T突变纯合子 ( 2 4 .0 % )较对照组 ( ( 7.1% )明显升高 .等位基因突变频率流产组 ( 2 6 .0 % )较对照组 ( 17.9% )升高 .结论 MTHFR 6 77C→T纯合子突变与习惯性流产有明确的相关关系 .  相似文献   

10.
目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T和A1298C突变与不明原因复发性流产(unexplained recurrent miscarriage,u RM)的关系。方法利用聚合酶链式反应(polymerase chain reaction,PCR)和限制性片段长度多态性(restriction fragment length polymorphisms,RFLP)方法,检测52例u RM患者(u RM组)和16例可孕妇女(对照组)MTHFR C677T和MTHFR A1298C位点多态性。结果 u RM组中MTHFR 677C/T(26.9%vs 25.0%,P=1.00)和677T/T(17.3%vs 6.3%,P=0.43)基因型频率以及T等位基因频率(30.8%vs 18.8%,P=0.19)高于对照组但无显著性差异;u RM组中MTHFR 1298 A/C(23.1%vs 18.8%,P=0.98)和1298 C/C(13.5%vs 12.5%,P=0.73)基因型频率以及C等位基因频率(25.0%vs 15.6%,P=0.27)高于对照组亦无显著性差异。结论我们的研究结果表明MTHFR C677T和A1298C基因位点突变可能与u RM无关。  相似文献   

11.
Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta‐analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (p < 0.05), mostly relating to the diseases of circulatory system, birth defects and cancers. The association of the A1298C polymorphism with three diseases (coronary heart disease, breast cancer and neural tube defects fathers) was statistically significant (p < 0.05). However, according to the Venice criteria, only the associations of the C677T polymorphism with breast and ovarian cancers were assessed as having strong epidemiological credibility. This is the first study to provide a comprehensive assessment of the current status and gaps in genetic epidemiological study of the two polymorphisms in China, and its findings may be useful for medical and public health practices. Future studies are warranted to focus on the interactions of MTHFR genes with environmental exposure and with other genes, and to improve their methodological quality and reporting of findings.  相似文献   

12.
BACKGROUND: Some cases of recurrent first trimester miscarriage (RM)-the loss of three or more consecutive pregnancies at <12 weeks' gestation-have a thrombotic aetiology. METHODS: We determined (i) the prevalence of three thrombophilic mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR) C677T] amongst 357 Caucasian couples with RM and 68 parous Caucasian couples with no history of miscarriage and (ii) the prospective outcome of untreated pregnancies amongst couples with RM in which either partner carried a thrombophilic mutation. RESULTS: The allele frequencies of FVL (2%), PTG (2%) and MTHFR C677T (31%) were similar between cases and controls. The prevalence of multiple thrombophilic mutations (greater than one mutation) was also similar between cases and controls. Amongst couples in whom either partner carried greater than one thrombophilic allele, the relative risk of miscarriage in a future untreated pregnancy was 1.9 (95% confidence interval, 1.3-2.8) compared with those couples who carried no thrombophilic mutation. CONCLUSION: The prevalence of thrombophilic mutations is similar in couples with RM and parous controls. In couples with RM, multiple genetic thrombophilic mutations in either partner significantly increases the risk of miscarriage in a subsequent pregnancy.  相似文献   

13.
An elevated level of homocysteine is an independent risk factor for cardiovascular diseases and is associated with other complex disorders. Homocysteine levels can be elevated due to dietary and/or genetic factors. A majority of Indian population have a low level of vitamin B12 (presumably due to vegetarian diet)—a critical nutritional factor, deficiency of which results in hyperhomocysteinemia. Hence, polymorphisms in the genes responsible for homocysteine metabolism can be perceived to have a greater impact in relation to hyperhomocysteinemia in Indian population. For this reason, the effects of diet and/or methylenetetrahydrofolate reductase (MTHFR) polymorphism were assessed in 200 individuals having varying homocysteine levels. Homocysteine levels were significantly elevated in individuals adhering to a vegetarian diet (P=0.019) or having MTHFR A1298C polymorphism (P=0.006). The minor allele frequency (MAF) of MTHFR C677T and A1298C was 0.15 and 0.44 respectively in this cohort. Since the MAF of these polymorphisms differed considerably from Caucasian and other Asian populations, frequencies of these polymorphisms were also determined in more than 400 individuals from different ethnic populations, selected from the entire country based on their geographical location and linguistic lineage, and was found to be similar to that of our cohort. The fact that MTHFR A1298C polymorphism is significantly associated with homocysteine levels, and that the CC genotype is present at a higher frequency in the Indian population, makes it extremely relevant in terms of its potential impact on hyperhomocysteinemia.  相似文献   

14.
To clarify the influence of MTHFR C677T and A1298C polymorphisms on gastric cancer (GC), a meta-analysis of eight case-control studies (1,584/2,785 cases/controls) was carried out. Overall, there was moderate heterogeneity among studies, and the C677T allele T was associated with a 27% increased risk of GC compared with C allele: the random effects (RE) OR (95% confidence interval in parenthesis) was significant [OR=1.27 (1.13–1.44)]. In East Asians, the association was significant: RE OR=1.28 (1.14–1.44), whereas, in Caucasians it was not significant. Regarding gastric cancer adenocarcinoma (GCA), an association for the allele contrast in East Asians was detected: fixed effects (FE) OR=1.36 (1.18–1.56). The recessive model for allele T produced significant results overall and in East Asians for GC [FE OR=1.47 (1.26–1.72) and FE OR=1.61 (1.32–1.96), respectively] and for GCA [RE OR=1.53 (1.13–2.05) and FE OR=1.70 (1.36–2.12)]. The A1298C polymorphism was associated with GCA in East Asians: the FE OR for the allele contrast (C vs. A) was 1.38 (1.18–1.62), and under a recessive model for allele C, OR=1.62 (1.28–2.06). There were no sources of bias in the selected studies; the differential magnitude of effect in large versus small studies was not significant. In conclusion, there is evidence of association between MTHFR polymorphisms and GC, mainly in East Asians.  相似文献   

15.
5, 10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine/methionine metabolism. The most-studied C677T polymorphism in the MTHFR gene results in a thermolabile variant with reduced activity, and is associated with increased levels of total plasma homocysteine, a risk factor for coronary artery disease. A new mutation in the MTHFR gene (A1298C) has also been reported to lower enzyme activity. Whether A1298C is a risk factor for coronary artery disease, separately or in combination with C677T, and/or relative to total plasma homocysteine and folate status, is unclear to date. We evaluated this hypothesis in 470 angiographically characterized subjects, 302 with coronary artery disease, and 168 with normal coronary arteries. The frequency of the 1298C allele was 0.33 and that of combined heterozygosity 0.315. No difference was found in the frequency of the genotypes or when analyzed for combined heterozygosity between patients with coronary artery disease and normals. Independent of folate status, the 1298C allele was not associated with increased total plasma homocysteine. No additional effect of A1298C on total plasma homocysteine was observed in 148 combined heterozygotes compared with 98 heterozygotes for the C677T alone. These findings do not support a major role for the A1298C mutation in homocysteine metabolism and emphasize the hypothesis that MTHFR genotypes may interfere with coronary artery disease risk only when an unbalanced nutritional status leads to raised total plasma homocysteine levels.  相似文献   

16.
目的探讨5,10-甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)基因C677T突变与神经管缺损(neuraltube defectes,NTD)发病的相关性。方法应用PCR—RFLP法,对67名正常儿童和48例NTD患儿(NTD组)(其中无脑儿16例,脊柱裂32例)进行MTHFR基因C677T突变分析。结果NTD组胎儿MTHFR基因TT基因型频率(68.7%)和T等位基因频率(0.820)均显著高正常对照组儿童(31.3%和0.54)(x^2=15.71,P〈0.01和x^2=17.18,P〈0.01)。与MTHFR基因CC基因型相比,携带TT基因型的胎儿发生NTD的相对风险增加6.28倍(95%CI:2.01~19.62)。结论MTHFR基因C677T多态性与潍坊地区人胎儿NTD发病有关联。  相似文献   

17.
快速检测副溶血弧菌及其毒力株方法的建立   总被引:1,自引:0,他引:1  
目的利用实时PCR技术,建立检测副溶血弧菌及其毒力株的方法。方法根据副溶血弧菌的跨膜转录激活蛋白toxR基因序列设计引物和改良分子信标(ROX标记),建立检测所有副溶血弧菌菌株的方法。通过与文献报道的检测直接耐热溶血素(TDH)基因的实时PCR体系合并,建立了同时检测副溶血弧菌及其毒力株的双重实时PCR方法。结果通过对9个属的101株菌株进行试验,所有的52株副溶血弧菌均产生ROX阳性信号(toxR’),其余菌株均检测为阴性,其中46.2%(24/52)的副溶血弧菌产生HEX阳性信号(tdh^+)。检测toxR基因的实时PCR体系DNA灵敏度为10~100fg/PCR体系,菌液灵敏度为59.2~592CFU/ml或2.96~29.6CFU/PCR体系。另外成功构建了双重实时PCR体系,能同时对副溶血弧菌的toxR和tdh基因进行检测。结论建立的双重实时PCR体系能同时检测副溶血弧菌及其毒力株,从而为食品的安全检疫提供有效手段。  相似文献   

18.
目的探讨山东地区亚甲基四氢叶酸还原酶(MTHFR)基因C677T的多态性与非综合征性唇腭裂(NSCL/P)的关系。方法运用聚合酶链反应-限制性内切酶片段长度多态性分析技术(PCR-RFLP),对2006年8月至2008年8月曾在齐鲁医院治疗的来自山东地区NSCL/P患儿35例和健康查体的正常儿童51例MTHFR基因的C677T基因型检测分析。结果患者组与对照组的基因型构成比有统计学意义(χ^2=8.770,P=0.0121)。对T分析,计算得到携带T等位基因的儿童患非综合征性唇腭裂的危险性是不携带T等位基因儿童的2.568倍(OR=2.568,95%CI:1.324-4.979)。TT突变纯合子患非综合征性唇腭裂的危险性是非TT纯合子的3.095倍(OR=6.088,95%CI:1.240-7.722)。结论 MTHFRC677T的T等位基因可能是山东地区非综合征性唇腭裂的遗传风险因子。  相似文献   

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