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ASSOCIATION OF PLASMA HOMOCYSTEINE LEVEL AND N^5, N^(10) -METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISM WITH CEREBRAL INFARCTION 被引量:5
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作者 张颖冬 朱志刚 刘阳 《Chinese Medical Sciences Journal》 CAS CSCD 2002年第4期231-235,共5页
Objective. To investigate the relationship of plasma homocysteine (Hcy) level to stroke and genetic factor to elevated plasma Hcy level.Methods. The plasma Hcy level was measured by capillary electrophoresis- ultravio... Objective. To investigate the relationship of plasma homocysteine (Hcy) level to stroke and genetic factor to elevated plasma Hcy level.Methods. The plasma Hcy level was measured by capillary electrophoresis- ultraviolet detection and the gene polymorphism of N5, N10 - methylenetetrahydrofolate reductase (MTHFR) was studied with PCR - RFLP assay in 43 patients with cortical cerebral infarction and 42 healthy controls.Results. The plasma Hcy level of the patients ( 19. 3 + 6. 0 μ mol/L) was markedly higher than that of the controls (13.7 + 5.4 μ mol/L) ( t = 4. 16, P < 0. 001). There are 3 genotypes, C/C, C/T and T/T, about base - variation of MTHFR gene at locus 677. The plasma Hcy level of the subjects with T/T genotype was higher than that of subjects with other genotypes. However, the frequencies of each genotype and allele were not significantly different between the patients and the controls.Conclusions. The elevated plasma Hcy level is a risk factor for atherothrombotic cerebral infarction, and is related to the C→T mutation at locus 677 of MTHFR gene. 展开更多
关键词 HOMOCYSTEInE n5 n10-methylenetetrahydrofolate reductase cerebral infarction
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N^(5,10)-亚甲基四氢叶酸还原酶基因多态性与脑血管病的关系研究
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作者 邓美英 薛明战 +7 位作者 张辉 乔晋 屈秋民 武成斌 李学成 鲁君亚 邓晓钟 高卫 《中国神经免疫学和神经病学杂志》 CAS 2003年第3期204-207,共4页
目的 探讨 N5,1 0 -亚甲基四氢叶酸还原酶 ( MTHFR) 677C→T位点突变与晚发型脑血管病的关系。方法 采用多聚酶链反应 -限制性内切酶片段长度多态性 ( PCR-RFLP)方法测定 1 0 7例脑血管病患者及 78例健康对照组 MTHFR基因多态性。结果... 目的 探讨 N5,1 0 -亚甲基四氢叶酸还原酶 ( MTHFR) 677C→T位点突变与晚发型脑血管病的关系。方法 采用多聚酶链反应 -限制性内切酶片段长度多态性 ( PCR-RFLP)方法测定 1 0 7例脑血管病患者及 78例健康对照组 MTHFR基因多态性。结果  ( 1 )两组 MTHFR基因型频率分布差异有显著性 ( P <0 .0 1 )。患者组纯合子 ( T/ T)突变频率 ( 2 2 .4% )较对照组 ( 1 9.0 % )升高 ,但统计学差异无显著性 ( P =0 .0 5 7)。杂合子 ( T/ C)频率( 61 .7% )较对照组 ( 4 1 .8% )明显升高 ,差异有显著性 ( P <0 .0 1 )。脑血管病患者发生 T等位基因型频率也较对照组显著升高 ,差异有显著性 ( P <0 .0 1 )。 ( 2 ) MTHFR677C→T突变基因型的患者或 T等位基因型患者患病的危险性较对照组显著增加 ,杂合子患病的危险性更大。结论 MTHFR677C→ T位点突变增加脑血管病的危险性 ,可能是脑血管病的易感基因。 展开更多
关键词 脑血管病 亚甲基四氢叶酸还原酶 基因
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Polymorphisms of MTHFR and susceptibility to oesophageal adenocarcinoma in a Caucasian United Kingdom population 被引量:8
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作者 Richard Keld Manyi Thian +3 位作者 Chia Hau Jamil Sajid Narveen Kumar Yeng Ang 《World Journal of Gastroenterology》 SCIE CAS 2014年第34期12212-12216,共5页
AIM: To identify if methylene tetra-hydrofolatereductase (MTHFR) C677T polymorphisms are associated with oesophageal adenocarcnomas in a Caucasian population and to test whether folic acid and homocysteine levels are ... AIM: To identify if methylene tetra-hydrofolatereductase (MTHFR) C677T polymorphisms are associated with oesophageal adenocarcnomas in a Caucasian population and to test whether folic acid and homocysteine levels are linked with cancer risk. 展开更多
关键词 Polymorphisms of 5 10-methylenetetrahydrofolate reductase Oesophageal adenocarcinoma Caucasian population Helicobacter pylori POLYMORPHISM
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