本文選題：亞甲基四氫葉酸還原酶 + 多態(tài)性　； 參考：《中華疾病控制雜志》2017年07期

【摘要】：目的了解上海市孕婦MTHFR基因型的分布情況,分析MTHFR C677T基因多態(tài)性與高同型半胱氨酸血癥的關聯(lián)性,為高危孕婦的遺傳篩查及圍產(chǎn)期葉酸攝入的個性化提供依據(jù)。方法選取上海市五所社區(qū)醫(yī)院2015年1月~2015年6月門診建卡孕婦1000例,隨訪了解基本信息、孕期危險因素暴露及葉酸攝入情況,以基因芯片法檢測MTHFR基因型,循環(huán)酶法檢測血漿同型半胱氨酸。結果上海地區(qū)孕婦MTHFR C677T基因CC型、CT型、TT型的檢出頻率分別為33.0%、49.2%、17.8%,等位基因C、T的頻率為57.6%、42.4%,樣本人群處于HW平衡狀態(tài)。血漿同型半胱氨酸濃度為11.22(9.15,13.52)μmol/L,其中911例(91.6%)正常,84例(8.4%)屬輕度高同型半胱氨酸血癥。經(jīng)多因素logistic回歸分析,CT型與TT型發(fā)生高同型半胱氨酸血癥的OR值分別為2.18(95%CI:1.11~4.25)和6.26(95%CI:3.13~12.53)。結論 MTHFR基因C677T多態(tài)性與孕婦血漿同型半胱氨酸水平存在關聯(lián),攜帶等位基因T者可視為高危孕婦,孕期葉酸補充可適量增加。
[Abstract]:Objective to investigate the distribution of MTHFR genotypes in pregnant women in Shanghai and to analyze the association between MTHFR C677T gene polymorphism and hyperhomocysteinemia in order to provide evidence for genetic screening and perinatal folic acid intake in high-risk pregnant women. Methods from January 2015 to June 2015, 1000 outpatients were selected from five community hospitals in Shanghai to investigate basic information, exposure to risk factors during pregnancy and folic acid intake. MTHFR genotypes were detected by gene chip method. Plasma homocysteine was detected by circulating enzyme method. Results the detection frequencies of MTHFR C677T CC and CT type TT were 33.0 and 49.2%, respectively. The frequency of allele C677T was 57.6% and 42.4%, respectively. The sample population was in HW equilibrium state. The plasma homocysteine concentration was 11.22 渭 mol / L (9.15 鹵13.52) 渭 mol / L, of which 911 cases (91.6%) were normal and 84 cases (8.4%) belonged to mild hyperhomocysteinemia. The OR values of hyperhomocysteinemia in CT and TT were 2.18 (95CI: 1.114.25) and 6.26 (95CI: 3.1312.53) by multivariate logistic regression analysis. Conclusion the polymorphism of MTHFR gene C677T is associated with plasma homocysteine level in pregnant women.
【作者單位】： 復旦大學公共衛(wèi)生學院流行病學教研室(公共衛(wèi)生安全教育部重點實驗室);
【基金】：上海市衛(wèi)生和計生委面上項目(201440301)
【分類號】：R715.3

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