文章摘要
张菁菁,季修庆,林 颖,许争峰.不良孕产史与MTHFR基因677和1 298位点多态性的相关性[J].南京医科大学学报,2011,(12):1811~1814
不良孕产史与MTHFR基因677和1 298位点多态性的相关性
The relationship between polymorphisms of MTHFR gene at 677 and 1298 position and unhealthy gravidity history
投稿时间:2011-07-29  
DOI:10.7655
中文关键词: 亚甲基四氢叶酸还原酶  不良孕产史  基因多态性
英文关键词: methylenetetrahydrofolate reductase  unhealthy gravidity history  genetic polymorphisms
基金项目:
作者单位
张菁菁 南京医科大学附属南京妇幼保健院产前诊断中心,江苏 南京 210004 
季修庆 南京医科大学附属南京妇幼保健院产前诊断中心,江苏 南京 210004 
林 颖 南京医科大学附属南京妇幼保健院产前诊断中心,江苏 南京 210004 
许争峰 南京医科大学附属南京妇幼保健院产前诊断中心,江苏 南京 210004 
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中文摘要:
      目的:探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T和A1 298C的基因多态性与不良孕产史之间的相关性?方法:选取53例曾有不良孕产史的女性和57例正常对照,应用DNA测序的方法检测MTHFR基因677位点和1 298位点的多态性,并对其多态性分布进行统计学分析,进而分析MTHFR基因与不良孕产史的发生之间的相关性?结果:在对照组中MTHFR基因677位点突变基因型T/T有3例(占5.3%),677位点基因型C/T同时存在1 298位点基因型A/C有9例(占15.8%);在病例组中MTHFR基因677位点突变基因型T/T有9例(占17%),677位点基因型C/T同时存在1 298位点基因型A/C有18例(占34%);经统计学分析在病例组和对照组中以上两种基因型之间均存在显著性差异(P < O.O5)?结论:MTHFR基因677位点基因型T/T(即677TT)以及677位点基因型C/T同时存在1 298位点基因型为A/C(即677CT+1298AC)增加了不良孕产史的发生风险?
英文摘要:
      Objective: To explore the relationship between the methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphism and unhealthy gravidity history. Methods: Fifty-three women with unhealthy gravidity history and fifty-seven controls were genotyped for MTHFR gene C677T and A1 298C polymorphism using sequencing technique. Results: In the control group,there was 3 of 677T/T genotype and 9 of 677C/T genotype meanwhile 1 298A/C genotype;in the experiment group,there was 9 of 677T/T genotype and 18 of 677C/T genotype meanwhile 1 298A/C genotype. There was an obvious difference between the experiment and the control group in the frequency 677T/T genotype,and 677C/T genotype with 1 298A/C genotype (P < 0.05). Conclusion: MTHFR C677T and A1 298C mutation allele may be related to the increased risk of unhealthy gravidity history.
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