琼海地区高危妊娠风险人群叶酸代谢障碍相关基因筛查及叶酸服用效果  

Related gene screening of pregnant population with highrisk of folic acid metabolism disorder in Qionghai area and the ef-ficacy of the folic acid application

作　　者：邢华蕊 龚护民[2] 黎小芳[1] XING Huarui;Gong Humin;Li Xiaofang(Qionghai Hospital of traditional Chinese Medicine,Qionghai Hainan Province,571400;Hainan Provincial People's Hospital(Hainan Hospital Affiliated to Hainan Medical College),Haikou,Hainan Province)

机构地区：[1]海南省琼海市中医院,571400 [2]海南省人民医院(海南医学院附属海南医院)

出　　处：《中国计划生育学杂志》2023年第4期968-973,共6页Chinese Journal of Family Planning

基　　金：海南省基础与应用基础研究计划(自然科学领域)高层次人才立项面上项目(2019RC364)。

摘　　要：目的:探讨高危妊娠风险人群叶酸代谢障碍相关基因筛查及叶酸干预效果。方法:收集2019年1月-2022年1月本院妇产科就诊的1964例孕前及孕早期产前检查女性临床资料,利用PCR技术检测甲硫氨酸合酶的还原酶(MTRR)基因A66G位点和亚甲基四氢叶酸的还原酶(MTHFR)相关基因A1298C、 C677T位点;均行叶酸代谢风险评估,未发现风险459例为非风险组,低、中、高度风险1505例,对中高危孕妇1050例按是否接受叶酸补服分为叶酸组479例和未接受叶酸补服的对照组571例,统计出生后存在缺陷、早产、自然流产、死胎等不良妊娠结局及妊娠期相关合并症、妊娠期相关并发症。结果:MTHFR C677T、MTHFR A1298C及MTRR A66G的基因型及等位基因的频率风险组高于非风险组(P<0.05),叶酸组与对照组无差异(P>0.05)。叶酸组出生缺陷(1.3%)、自然流产(3.3%)、早产(4.0%)发生率均低于对照组(6.0%、7.0%、8.4%),妊娠期高血压(4.0%)低于对照组(11.9%)(均P<0.05),两组妊娠期糖尿病、妊娠期贫血发生率比较无差异(P>0.05),胎膜早破(0.8%)、羊水异常(3.9%)发生率均低于对照组(2.0%、7.9%),前置胎盘、胎盘早剥、脐带异常发生率两组无差异(P>0.05)。结论:MTHFR、MTRR基因位点可能是本次调查叶酸代谢障碍致高危妊娠风险疾病的潜在因素,科学服用叶酸能有效降低妊娠期合并症和并发症发生,改善不良妊娠结局。Objective:To explore the related gene screening of pregnant population with high-risk of folic acid metabo-lism disorder,and to study the efficacy of the folic acid application.Methods:The clinical data of 1964 women with pre pregnancy examinations or with antenatal examination during the first trimester of pregnancy from January 2019 to January 2022 were collected.The A66G site of methionine synthase reductase(MTRR)gene and the related genes A1298C and C67T sites of methylenetetrahydrofolate reductase(MTHFR)gene of these women were detected by PCR technology.Folate metabolism risk assessment of these women had been conducted.458 women without folate metabolism risk were in group A,and 1505 women with folate metabolism risk were in group B,including women with low,medium,or high folate metabolism risk.1050 with medium or high folate metabolism risk were divided into group C(479 women with oral folic acid)and group D(571 women without oral folic acid).The adverse pregnancy outcomes,such as birth defects,premature delivery,spontaneous abortion,stillbirth,and the pregnancy related com-plications of the women in the two groups were counted.Results:The genotype and allele frequencies of MTHFR C677T,MTHFR A1298C,and MTRR A66G of the women in group B were significantly higher than those of the women in group A(P<0.05),but which of the women had no significant differences between the two groups(P>0.05).The incidences of the birth defects(1.3%),the spontaneous abortion(3.3%),the preterm delivery(4.0%),and the pregnancy-induced hypertension(4.0%)of the women in group C were significantly lower than those(6.0%,7.0%,8.4%,and 11.9%)of the women in group D(all P<0.05).There were no significant differences in the inci-dences of gestational diabetes mellitus and anemia of the women between group C and group D(P>0.05).The inci-dences of premature rupture of membranes(0.8%)and abnormal amniotic fluid(3.9%)of the women in group C were significantly lower than those(2.0%and 7.9%)of the women in group D.There were no significant diff

关 键 词：琼海地区 高危妊娠 叶酸代谢障碍 基因筛查 甲硫氨酸合酶的还原酶基因 亚甲基四氢叶酸的还原酶基因 叶酸干预 

分 类 号：R714.256[医药卫生—妇产科学]