摘要
目的 探究新生儿出生缺陷与叶酸代谢产物及关键酶基因多态性的关系。方法 选择2018年3月—2022年9月产下出生缺陷新生儿的产妇174例及产下健康新生儿产妇150例,分别作为研究组及对照组。收集2组产妇一般资料,采用聚合酶链式反应-限制性片段长度多态性检测亚甲基四氢叶酸脱氢酶1基因G1958A位点、5,10-亚甲基四氢叶酸还原酶基因C677T及A1298C位点、甲硫氨酸合成酶基因A2756G位点、甲硫氨酸合成酶还原酶(MTRR)基因A66G位点、细胞膜还原叶酸转运载体(RFC)基因A80G位点基因多态性,分析产妇各基因多态性与新生儿出生缺陷的关系。结果 研究组MTRR基因A66G位点G等位基因、RFC基因A80G位点G等位基因比例高于对照组(P<0.05,P<0.01)。MTRR基因A66G位点基因型在显性、共显性模型下差异有统计学意义(P<0.01);RFC基因A80G位点在隐性、共显性模型下差异有统计学意义(P<0.05)。MTRR基因A66G位点、RFC基因A80G位点联合分析显示,AA/GG型、AG/AG型与纯合子AA/AA型比较差异有统计学意义(P<0.01)。多因素Logistic回归分析显示,孕期叶酸服用史、MTRR基因A66G位点多态性、RFC基因A80G位点多态性是出生缺陷的独立危险因素(P<0.05,P<0.01)。结论 叶酸代谢相关基因MTRR、RFC与新生儿出生缺陷相关,临床可通过检测母体相关基因多态性,评估叶酸利用能力,进而评估新生儿出生缺陷的发生风险。
Objective To explore the relationship between birth defects and gene polymorphism of folate metabolites and key enzymes in newborns.Methods A total of 174 women who gave birth to newborns with birth defects and 150 women who gave birth to healthy newborns between March 2018 and September 2022 were selected as research group and control group,respectively.General maternal data of the two groups were collected.The gene polymorphisms of G1958A locus of methylene tetrahydrofolate dehydrogenase 1(MTHFD1)gene,the C677T and A1298C loci of 5,10-methylene tetrahydrofolate reductase(MTHFR)gene,the A2756G locus of methionine synthetas(MTR)gene,A66G locus of methionine synthase reductase(MTRR)gene and A80G locus of cell membrane reduced folate carrier(RFC)gene were detected by PCR restriction fragment length polymorphism(RFLP).The relationship between maternal gene polymorphisms and birth defects of newborns was analyzed.Results The proportion of G allele at A66G locus of MTRR gene and G allele at A80G locus of RFC gene in research group was higher than that in control group(P<0.05,P<0.01).The difference in the genotype of A66G locus of MTRR gene was statistically significant in dominant and co-dominant models(P<0.01).The difference in A80G locus of RFC gene was statistically significant in recessive and co-dominant models(P<0.05).The combined analysis of A66G locus of MTRR gene and A80G locus of RFC gene showed significant difference between AA/GG type,AG/AG type and homozygous AA/AA type(P<0.01).Multivariate Logistic regression analysis showed that history of folic acid consumption,MTRR gene A66G locus polymorphism and RFC gene A80G polymorphism were independent risk factors for birth defects(P<0.05,P<0.01).Conclusion Folic acid metabolism-related genes MTRR and RFC are associated with birth defects in newborns.Clinical detection of maternal related gene polymorphism can assess folic acid utilization ability,and then assess the risk of birth defects in newborns.
作者
高桂珍
戴亮
李敏
赵婧
刘英
GAO Guizhen;DAI Liang;LI Min;ZHAO Jing;LIU Ying(Department of Pediatrics,the Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan 637000,China;Department of Stomatology,the Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan 637000,China;Department of Neonatology,Langzhong People's Hospital,Langzhong,Sichuan 637400,China)
出处
《临床误诊误治》
CAS
2023年第9期78-83,共6页
Clinical Misdiagnosis & Mistherapy
基金
四川省基层卫生事业发展研究中心2021年立项项目(SWFZ21-Z-09)。
