本文選題：MTHFR基因多態(tài)性　切入點：同型半胱氨酸　出處：《南京醫(yī)科大學學報(自然科學版)》2017年10期 　論文類型：期刊論文

【摘要】：目的 :探討江蘇孕前優(yōu)生健康檢查女性人群中MTHFR基因多態(tài)性及其與葉酸(FA)、同型半胱氨酸(HCY)之間的關系。方法:選取江蘇部分地區(qū)參加孕前優(yōu)生健康檢查婦女共915例,檢測外周全血MTHFR基因中與子代先心病發(fā)病相關的rs1801131、rs1801133兩個位點的突變情況;并檢測外周血中HCY濃度和FA水平。結果 :915例中,rs1801131純合突變(CC型)為3.39%、雜合突變(AC型)為28.74%;rs1801133純合突變(TT型)20.55%、雜合突變(CT型)48.20%。rs1801133位點中,野生型和純合、雜合突變基因3組之間HCY和FA的差異均有統(tǒng)計學意義;TT組HCY高于CC、CT組,TT組FA低于CC組。rs1801131AC與rs1801133TT基因組合的復合突變個體HCY水平明顯高于rs1801131AC與rs1801133CC、CT兩個基因組合。結論:與先心病相關的MTHFR基因兩個位點的多態(tài)性與外周血中HCY、FA的濃度之間有相關性。因此,掌握備孕女性MTHFR基因位點的突變情況,可以有針對性地實施孕前和孕早期FA增補方案,從而預防可能因有關基因多態(tài)性而發(fā)生的先天性心臟病。
[Abstract]:Objective: To investigate the MTHFR Jiangsu pre pregnancy health examination women gene polymorphism and folic acid (FA), homocysteine (HCY). Methods: the relationship between parts of Jiangsu to participate in the pre pregnancy examination of a total of 915 Cases of women, the detection of peripheral blood MTHFR gene in offspring with CHD associated rs1801131 rs1801133, the mutation of the two sites; and the detection of peripheral blood HCY concentration and FA level. Results: in 915 Cases, rs1801131 homozygous mutation (CC) was 3.39%, heterozygous mutation (AC) was 28.74%; rs1801133 homozygous mutation (TT type) 20.55%, heterozygous mutation (type CT) 48.20%.rs1801133 loci, wild-type and homozygous, heterozygous mutation gene between the 3 groups HCY and FA had significant differences; TT group HCY was higher than CC, CT group, TT group, FA group and.Rs1801131AC CC lower than rs1801133TT gene compound mutation of HCY was significantly higher than rs1801131 AC and rs1801133CC, CT two gene combinations. Conclusion: MTHFR gene associated with congenital heart disease two polymorphism and HCY in peripheral blood, there is a correlation between the concentration of FA. Therefore, mastering the mutation of MTHFR gene by pregnant women, can have on the early FA before pregnancy and pregnancy to supplement plan the implementation, in order to prevent congenital heart disease may be due to the gene polymorphism.

【作者單位】： 江蘇省生殖健康檢驗中心江蘇省計劃生育科學技術研究所;重慶市人口和計劃生育科學技術研究院;
【基金】：重慶市基本科研業(yè)務費資助(2015cstc-jbky-01718) 重慶市出生缺陷與生殖健康重點實驗室科研項目(2015-02) 江蘇省衛(wèi)計委科研項目(Z2015-07);江蘇省衛(wèi)計委婦幼項目(F201501) 江蘇省科技廳計劃(BM2015020,2015020-2)
【分類號】：R169.1

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