血浆同型半胱氨酸与叶酸、维生素B_(12)及还原酶的关系  

Relationship between folate ,vitamin B_(12) ,total plasma homocysteine and mutation of reductase

作　　者：郝玲[1] 刘明珠 刘晓慧 陈星[1] 唐仪[1] 李竹[1] 

机构地区：[1]北京医科大学中国妇婴保健中心

出　　处：《中华预防医学杂志》2000年第1期22-24,共3页Chinese Journal of Preventive Medicine

基　　金：国家"8 6 3计划"科研基金!10 2 10 0 3 0 4

摘　　要：目的　探讨叶酸、维生素B1 2 (VB1 2 )、血浆总同型半胱氨酸 (tHcy)、5 ,10 亚甲基四氢叶酸还原酶 (MTHFR)活性及其热敏感性基因型间的相互关系。方法　研究对象为 3 4例生育神经管畸形(NTDs)儿的母亲及 4 2例生育正常儿的母亲 ,检测指标包括tHcy、红细胞叶酸、血清叶酸和VB1 2 、MTHFR酶活性及热敏感性基因型。结果　tHcy、红细胞叶酸、血清叶酸在病例组与对照组间差异无统计学意义 ;NTDs患儿母亲VB1 2 显著低于正常儿母亲 ;tHcy与红细胞叶酸呈显著负相关 ;MTHFR热敏感性基因纯合突变组tHcy显著高于杂合突变和纯合野生组 ;血清维生素水平在MTHFR各基因型间差异无显著性 ;叶酸较低组tHcy略高于叶酸较高组 ,并与MTHFR酶活性呈显著负相关。结论　体内tHcy增高与MTHFR热敏感性基因纯合突变、酶活性下降有关 ;体内叶酸水平高低影响tHcy与MTHFR酶活性相关性。Objective Tostudyrelationshipbetweenserumandredbloodcell(RBC)folate ,serum vitaminB1 2 (VB1 2 ) ,totalplasmahomocysteine (tHcy) ,thermolabilegenotypes,andactivityofmethylene tetrahydrofolatereductase (MTHFR) .Methods Thirty fournon pregnantandhealthymotherswhogavebirthto babieswithneuraltubedefects (NTDs)and 4 2motherstonormalbabiespreviouslywerechosen .PlasmatHcy, RBCandserumfolate ,serumVB1 2 ,activityofMTHFRandthermolabilegenotypesweredeterminedforallof them .Results TherewasnosignificantdifferenceinplasmatHcy ,RBCandserunfolatebetweencaseand controlgroups.SerumVB1 2 wassignificantlylowerinmothersofbabieswithNTDsthaninthosewithnormalones. PlasmatHcycorrelatedwithRBCfolateinversely (P <0 .0 5 ) .MeanplasmatHcyforthermolabilehomozygous mutationofMTHFRwassignificantlyhigherthanthatforeitherheterozygousmutationorwildhomozygousmutation (P <0 .0 0 1) .TherewasnosignificantdifferenceinserumfolatebetweengroupswithvariedMTHFRgenotypes. PlasmatHcywasslightlygreaterinthosewithlowerserumfolatethaninthosewithhigherone ,andcorrelated inverselywithactivityofMTHFR .Conclusions IncreaseinplasmatHcycorrelateswithhomozygousmutationof thermolabileMTHFRanddecreaseinactivityofMTHFR .Higherleveloffolateinthebodycaninterferethe relationshipbetweenplasmatHcyandactivityofMTHFR .

关 键 词：同型半胱酸 叶酸 维生素B12 神经管畸形 

分 类 号：R331[医药卫生—人体生理学]