摘要
目的探讨叶酸代谢酶基因多态性在新生儿出生缺陷的中的应用及相关研究。方法选择2016年3月-2018年2月正常孕检的孕妇146例作为对象,利用eppdndorf核酸定量仪测定孕妇白细胞中DNA含量,利用测序级扩增仪扩增MHFR的C677T、A66G位点相应的基因片段,双相测序法完成PCR产妇的测定;采用全自动生化分析仪测定孕妇同型半胱氨酸(Hcy)水平,采用免疫发光法测定叶酸(FA)及维生素B12水平;根据基因测定结果分为观察组(n=87例,中度风险或高风险)和对照组(n=59,无风险或低风险),观察组每天补充叶酸800μg,对照组每天补充叶酸400μg,连续进行3个月干预;统计并记录两组干预后神经管畸形、唇腭裂、先天性心脏病、四肢畸形、唐氏综合征发生率。结果正常孕检的孕妇均顺利完成基因分型检测,MHFR的C677T基因分型中排在前两位的分别为CC、CT;MHFR的A66G基因分型中排在前两位的分别为AA和AG;基因C677T中CT、TT分型下Hcy水平,低于CC分型(P<0.05);C677T中CT、TT分型下FA、维生素B12水平,高于CC分型(P<0.05);A66G中AA分型下Hcy水平,高于AG、GG分型(P<0.05);A66G中AA分型下FA、维生素B12水平,均低于AG、GG分型(P<0.05);观察组与对照组干预前Hcy、FA及维生素B12水平差异无统计学意义(P>0.05);观察组与对照组干预后Hcy水平,均低于干预前(P<0.05);观察组与对照组干预后FA、维生素B12水平,均高于干预前(P<0.05);观察组与对照组孕妇分娩后新生儿神经管畸形、唇腭裂、先天性心脏病、四肢畸形、唐氏综合征发生率差异无统计学意义(P>0.05)。结论叶酸代谢酶基因多态性中MHFR的C677T/T、66A/A能直接参与新生儿出生缺陷,加强叶酸代谢酶基因多态性、Hcy测定根据叶酸利用能力针对性补充叶酸能降低出生缺陷发生率。
Objective:To investigate the application and related research of folate metabolic enzyme gene polymorphism in neonatal birth defects.Methods:A total of 146 pregnant women with normal pregnancy tests from March 2016 to February 2018 were enrolled.The DNA content of leukocytes in pregnant women was determined by eppdndorf nucleic acid quantitation.The C677 T and A66 G loci of MHFR were amplified by sequencing-grade amplification instrument.Gene fragment,duplex phase sequencing method to complete the determination of PCR maternal;automatic biochemical analyzer to determine the level of homocysteine(Hcy)in pregnant women,immunofluorescence method for determination of folic acid(FA)and vitamin B12 levels;Divided into observation group(n=87 cases,moderate risk or high risk)and control group(n=59,no risk or low risk),the observation group was supplemented with folic acid 800 ug per day,and the control group was supplemented with folic acid 400 ug per day for 3 consecutive days.Monthly intervention;statistics and recorded the incidence of neural tube defects,cleft lip and palate,congenital heart disease,limb deformity,and Down syndrome after intervention.Results:The pregnant women with normal pregnancy test successfully completed the genotyping test.The top two of the C677 T genotypes of MHFR were CC and CT respectively.The top two A66 G genotypes of MHFR were AA.And AG;gene C677 T in the CT,TT classification Hcy level,lower than CC classification(P<0.05);C677T in CT,TT classification FA,vitamin B12 level,higher than CC classification(P<0.05)The level of Hcy in AA was higher than that in AG and GG(P<0.05).The levels of FA and vitamin B12 in A66 G were lower than those in AG and GG(P<0.05).There were no significant differences in Hcy,FA and vitamin B12 levels between the control group and the control group(P>0.05).The Hcy levels in the observation group and the control group were lower than those before the intervention(P<0.05).The observation group and the control group The levels of FA and vitamin B12 were higher than those before intervention(P<0.05).The incidence of neonatal neural tube defects,cleft lip and palate,congenital heart disease,limb malformation and Down syndrome after delivery in the observation group and the control group.The difference was not statistically significant(P>0.05).Conclusion:C677T/T and 66A/A of MHFR in folate metabolism gene polymorphism can directly participate in neonatal birth defects,strengthen folate metabolic enzyme gene polymorphism,and Hcy determination can reduce birth defects according to folic acid utilization ability.Incidence.
引文
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