乌鲁木齐汉族妇女亚甲基四氢叶酸还原酶基因变异与血清叶酸和同型半胱氨酸水平的相关性研究  

Study on the Correlation between the Variation of Methylenetetrahydrofolate Reductase Gene and Folate and Homocysteine in Urumqi Han Women

作　　者：张燕 王伟红 郝万鹏 ZHANG Yan;WANG Wei-hong;HAO Wan-peng(Department of Clinical Laboratory,Urumqi First People’s Hospital,Urumqi 830011,China;Urumqi Hot Spring Rehabilitation Hospital,Urumqi 830017,China)

机构地区：[1]乌鲁木齐市第一人民医院检验科,乌鲁木齐830011 [2]乌鲁木齐市温泉康复医院,乌鲁木齐830017

出　　处：《现代检验医学杂志》2019年第5期98-100,105,共4页Journal of Modern Laboratory Medicine

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T变异的特征及对叶酸和同型半胱氨酸(Hcy)浓度的影响,并分析叶酸与Hcy的相关性。方法采取病例与对照研究的方法,选取110例MTHFR基因C677T位点TT基因型为观察组,同时根据纳入标准选对照组118例。通过PCR-金磁微粒层析法检测MTHFR基因多态性。采用电化学发光法测定血清中叶酸浓度,使用全自动生化分析,循环酸法检测血清中Hcy。结果乌鲁木齐地区汉族女性MTHFR位点TT基因型的频率为24.5%。观察组叶酸均值为4.9±2.6μg/L,Hcy均值为25.9±2.9μmol/L,对照组叶酸与Hcy均值分别为15.5±1.9μg/L和10.5±1.8μmol/L,两组比较,差异均有统计学意义(t=8.356,9.835,均P<0.05)。观察组不良妊娠结局发生频率为19.1%,对照组为4.2%,差异具有统计学意义(χ^2=29.3,P=0.000)。叶酸与Hcy呈负相关(回归方程:Y=-0.785X+0.913,r=-0.859,P<0.05)。结论乌鲁木齐地区女性MTHFR位点TT基因型频率与文献报道一致。叶酸浓度降低,而Hcy浓度升高,两者关系呈负相关。女性在怀孕期需进行MTHFR基因多态性检测。Objective To investigate the effect of methylene tetrahydrofolate reductase(MTHFR)mutation on the concentration of folate and homocysteine(Hcy),in addition,the correlation between folate and Hcy in TT genotypes with MTHFR polymorphism was also analyzed.Methods Total of 110 MTHFR C677 genotypes were selected as the observation group,and 118 were selected as the control group according to the inclusion criteria.The polymorphism of MTHFR gene was detected by PCR-gold magnetic particle chromatography.The concentration of folate in serum was determined by electrochemical luminescence method,and the serum Hcy was detected by automatic biochemical analysis and circulating acid method.Results The TT genotype frequency of MTHFR loci was 24.5%.The mean value of folate in the observation groups was 4.9±2.6μg/L,the mean value of Hcy was 25.9±2.9μmol/L,and the mean value of folate in the control group were 15.5±1.9μg/L,and the mean value of Hcy in the control group were 10.5±1.8μmol/L.The difference between the two groups was statistically significant(t=8.356,9.835,P<0.005).The frequency of adverse pregnancy in the observation group were 19.1%,the control group was 4.2%,the difference was statistically significant(χ^2=29.3,P=0.000).Folate negatively correlated with Hcy(regression equation:Y=-0.785X+0.913,r=-0.859,P<0.05).Conclusion The TT genotype frequency of female MTHFR loci in Urumqi was consistent with literature report.There was a negative correlation between folate concentration and Hcy concentration.Female should be tested for MTHFR polymorphism during pregnancy.

关 键 词：亚甲基四氢叶酸还原酶 基因 叶酸 同型半胱氢酸 

分 类 号：Q754[生物学—分子生物学]