孕妇胎儿神经管缺陷易感性与MTHFR基因C667T位点突变、TYMS基因rs3819102位点突变及血清SAP水平的关系  

Relationship between the susceptibility of fetal neural tube defects in pregnant women and the C667T mutation of MTHFR gene,rs3819102 mutation of TYMS gene and serum SAP level

作　　者：唐明霞[1] 解春宝[2] TANG Mingxia;XIE Chunbao(Department of Laboratory Medicine,Ya′an People′s Hospital,Ya′an,Sichuan 625000,China;Clinical Medical Laboratory Center,Sichuan Academy of Medical Sciences·Sichuan Provincial People′s Hospital,Chengdu,Sichuan 610031,China)

机构地区：[1]四川省雅安市人民医院检验科,四川雅安625000 [2]四川省医学科学院·四川省人民医院临床医学检验中心,四川成都610031

出　　处：《国际检验医学杂志》2021年第14期1710-1714,1719,共6页International Journal of Laboratory Medicine

基　　金：2019年省干部保健科研课题(2019-241)。

摘　　要：目的研究孕妇胎儿神经管缺陷易感性与5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C667T位点突变、胸苷酸合成酶(TYMS)基因rs3819102位点突变及血清淀粉样P物质(SAP)水平的关系。方法前瞻性选择2017年12月至2019年12月在四川省雅安市人民医院产检的159例胎儿神经管缺陷的孕妇为观察组,159例胎儿健康的孕妇为对照组,采用酶联免疫吸附试验法(ELISA)检测并比较两组血清SAP水平,采用聚合酶链式反应-限制性片段长度多态性(PCR-RLFP)法对MTHFR基因C667T位点、TYMS基因rs3819102位点多态性进行检测分析,比较两组各位点的基因型和等位基因分布频率,采用Spearman相关性分析MTHFR基因C667T位点突变、TYMS基因rs3819102位点突变及血清SAP水平与孕妇胎儿神经管缺陷的相关性,采用Logistic回归分析孕妇胎儿神经管缺陷的危险因素。结果观察组血清SAP水平明显低于对照组,差异有统计学意义(P<0.05);观察组MTHFR基因C667T位点的CC、CT、TT基因型频率及T、C等位基因频率与对照组比较,差异有统计学意义(P<0.05);观察组TYMS基因rs3819102位点的AA、GG、AG基因型频率及A、G等位基因频率与对照组比较,差异有统计学意义(P<0.05);血清SAP水平与孕妇胎儿神经管缺陷呈负相关关系(r=-0.647,P<0.05);MTHFR基因C667T位点TT基因型频率及T等位基因频率与孕妇胎儿神经管缺陷呈正相关关系(r=0.205,P<0.05);TYMS基因rs3819102位点的GG基因型频率及G等位基因频率与孕妇胎儿神经管缺陷呈正相关关系(r=0.204,P<0.05);血清SAP低水平、MTHFR基因C667T位点T等位基因突变、TYMS基因rs3819102位点G等位基因突变是孕妇胎儿神经管缺陷的危险因素。结论血清SAP低水平、MTHFR基因C667T位点T等位基因突变、TYMS基因rs3819102位点G等位基因突变可能增加孕妇胎儿神经管缺陷易感性。Objective To investigate the relationship between the susceptibility of fetal neural tube defects in pregnant women and the C667T mutation of 5,10-methylenetetrahydrofolate reductase(MTHFR)gene,rs3819102 mutation of thymidylate synthetase(TYMS)gene and serum amyloid P substance(SAP)level.Methods One hundred and fifty-nine pregnant women with fetal neural tube defects(observation group)and 159 healthy pregnant women(control group)in Ya′an People′s Hospital were enrolled from December 2017 to December 2019.Enzyme linked immunosorbent assay(ELISA)was used to detect and compare the serum SAP levels of the two groups.Polymerase chain reactions-restricted fragment length polymorphism(PCR-RFLP)method was used to detect and analyze the polymorphism of C667T of MTHFR gene and rs3819102 of TYMS gene.The genotype and allele distribution frequency of each locus in the two groups were compared.The correlations between MTHFR C667T mutation,TYMS rs3819102 mutation,serum SAP level and fetal neural tube defects were analyzed by Spearman correlation.The risk factors of fetal neural tube defects were analyzed by Logistic regression.Results The serum SAP level of observation group was significantly lower than that of control group(P<0.05).The genotype frequency of CC,CT and TT at C667T locus of MTHFR gene and the allele frequency of T and C in observation group were significantly different from those of control group(P<0.05).The genotype frequency of AA,GG and AG and allele frequency of A and G at rs3819102 of TYMS gene in observation group were significantly different from those of control group(P<0.05).Serum SAP level negatively correlated with neural tube defects in pregnant women(r=-0.647,P<0.05).The TT genotype frequency and T allele frequency at the C667T locus of MTHFR gene positively correlated with neural tube defects in pregnant women(r=0.205,P<0.05).GG genotype frequency and G allele frequency at rs3819102 of TYMS gene positively correlated with neural tube defects in pregnant women(r=0.204,P<0.05).Low serum SAP level

关 键 词：5 10-亚甲基四氢叶酸还原酶 胸苷酸合成酶 血清淀粉样P物质 基因多态性 胎儿神经管缺陷 易感性 

分 类 号：R714.51[医药卫生—妇产科学]