叶酸利用能力分子医学检测在母胎医学领域的应用

摘要

目的：探讨分子医学检测叶酸利用能力在母胎医学领域的研究与应用。方法通过检测MTHFR基因C677T、A1298 C及MTRR基因A66 G相关多态性位点，分析其遗传特征及分布特点，从而对叶酸利用能力遗传风险进行分级。结果青岛地区围产期妇女发现高度叶酸利用能力遗传风险的比例为23．17％，显著高于全国参考数据的17．70％（χ2＝7．136，P＜0．05）；中度和低度叶酸利用能力遗传风险的比例分别为33．07％和18．19％，全国参考数据为35．18％和12．08％，无显著性差异（χ2值分别为7．452、2．347，均P＞0．05），未发现遗传风险的比例为25．57％，显著低于全国参考数据的33．04％（χ2＝8．134，P＜0．05）。实验组与对照组的叶酸利用能力总体构成不同，存在统计学差异（χ2＝15．67，P＜0．01），高度风险组与未发现风险组的相对危险度（ RR）为2．61。结论青岛地区围产期妇女叶酸代谢和利用障碍与不良孕产妇有着重要的关系，基于Taqman-MGB探针检测的孕期叶酸补充指导和监测将是进一步降低新生儿出生缺陷的重要方法。%[ Abstact] Objective To explore the application of molecular medical examination of folic acid utilization ability in maternal-fetal medicine.Methods By detecting MTHFR gene C677T, A1298C and MTRR gene A66G related polymorphisms, their genetic characteristics and distribution were analyzed, and thus to classify the genetic risk of folic acid utilization ability.Results In Qingdao the high genetic risk of folic acid utilization ability in perinatal women was 23.17%, which was significantly higher than the national reference data (17.70%) (χ2 =7.136, P<0.05).The moderate and low genetic risk of folic acid utilization ability was 33.07% and 18.19%, respectively, and the national reference data was 35.18%and 12.08%, respectively.The differences were not significant (χ2 value was 7.452 and 2.347, respectively, both P>0.05).Genetic risk was not found in 25.57%perinatal women, which was obviously lower than the national reference data (33.04%) (χ2 =8.134,P<0.05).The overall composition of folic acid utilization ability in the experimental group and the control group was different, and there was significant difference (χ2 =15.67, P<0.01).Relative risk (RR) of high risk group and no risk group was 2.61.Conclusion There is an important relationship between folic acid metabolism and utilization barriers and adverse perinatal pregnancy in Qingdao.Guidance and monitoring of folic acid supplementation based on Taqman-MGB testing during pregnancy is an important way to further reduce birth defects.