MTHFR基因多态性与冠心病的关系

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1、维普资讯http://www.cqvip.com494TianjinMedJ，Aug2003，Vol31No8MTHFR基因多态性与冠心病的关系马向红黄体钢杨万松倪燕平周丽娟李永健李飞雪摘要目的：研究天津地区人群N，N”一亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与冠心病的关系。方法：应用聚合酶链反应(PCR)技术和限制性酶切片段长度多态性(RFLP)分析技术检测5O例冠心病患者(冠心病组)和5O例正常人(对照组)MTHFR基因C677T多态性，应用高效液相色谱法测定血浆同型半胱氨酸(Hcy)水平，采用I标记放免法测定血清叶酸浓度。结果：(1

2、)冠心病组与对照组MTHFR基因频率分布不同(P<0．05)，对照组CC型、TC型、TT型基因频率分别为52．O％，28．O％，2O．O％；冠心病组分别为26．O％，44．O％，30．O％。冠心病组T等位基因频率为52．0％，C等位基因频率为48．0％，与对照组比较有显著性差异(PO．05)。(3)冠心病组Hcy浓度高于对照组(P<0．05)。两组叶酸水平无显著性差异(P>O．05)，血浆Hcy浓度与叶酸水平均呈显著负相关(r分别

3、为一0．617和一0．588，P<0．05)。结论：MTHFR基因C677T点突变与冠心病发病密切相关，MTHFR基因纯合突变是引起高Hcy血症的一个重要的遗传因素。关键词四氢叶酸脱氢酶多态现象冠状动脉疾病半胱氨酸RelationshipbetweenMethyIenetetrahydrOfOIateReductaseGenePolymorphismsandCoronaryHeartDiseaseMAXianghong，HUANGTigang，YANGWaning，NIYanping，ZHOULijuan，LIYongjian，LIFeixueInsti

4、tuteD，Cardiology，DepartmentofCardiology，SecondHospitalofTianjinMedicalUniversity，Tianjin300211，ChinaAbstractObjective：Tostudytherelationshipbetweenmethylenetetrahydrofolatereductasegenepolymor—phismsandcoronaryheartdisease．Methods：Fiftycoronaryheartdiseasepatientsand50controlswer

5、estud-ied．MTHFRgeneC677Tpolymorphismwasdeterminedwithpolymerasechainreaction(PCR)andrestrictionfragmentlengthpolymorphism(RFLP)．Plasmatotalhomocysteinelevelwasmeasuredwithhigh—performanceliquidchromatography(HPLC)withfluorescencedetection．Serumfolatemarkedwith1wasdeterminedbyradi

6、o-immunologymethod．Results：ThefrequenceofMTHFRC677Thomogenetictypeandheterogenetictypeinpatientswithcoronaryheartdiseasewere30％and44％respectively．andwashigherthanthoseincontrolgroup(20％and28％，respectively)．Thefrequencyof677Tallelewasmuchhigherthanthatincontrolgroup(P<0．05)．andpla

7、smahomocysteinelevelsweremarkedlyhigherinpatientswithTTgenotypethanthoseinpa—tientswithTCandCCgenotype(P<0．05)．Therewasaninversecorrelationbetweenhomocysteineandfolateincasegroupandcontrolgroup(r=一0．617and一0．588，respectively，P<0．05)．Conclusion：MTHFRC677Tgenepolymrophismwasclosely

8、associatedwithcoronaryheartdisease．Keywo