甘肃省非综合征性唇腭裂与MTHRF、MTRR基因多态性及叶酸的补充相关性研究  

Correlation between nonsyndromic cleft lip and palate with MTHFR,MTRR gene polymorphism and supplementation of folic acid in Gansu Province

作　　者：刘瑞敏[1] 张彩虹 尹峥嵘 苟学立 岳海泉[1] 刘栩 Liu Rui-min;Zhang Cai-hong;Yin Zheng-rong;Gou Xue-li;Yue Hai-quan;Liu Xu(Department of Oral and Maxillofacial Surgery,Gansu Provincial Hospital,Lanzhou 730000,China;Department of Stomatology,Shandan County People's Hospital of Zhangye City,Gansu Province,Zhangye 734100,Gansu,China;Department of Prosthodontics,School of Stomatology,Lanzhou University,Lanzhou 730000,China;Department of Stomatology,Jingtai County People's Hospital,Baiyin 730400,Gansu,China)

机构地区：[1]甘肃省人民医院口腔颌面外科,甘肃兰州730000 [2]甘肃省张掖市山丹县人民医院口腔科,甘肃张掖734100 [3]兰州大学口腔医学院修复科,甘肃兰州730000 [4]甘肃省景泰县人民医院口腔科,甘肃白银730400

出　　处：《兰州大学学报（医学版）》2020年第5期61-66,共6页Journal of Lanzhou University（Medical Sciences）

基　　金：甘肃省人民医院国家级科研项目培育计划项目(19SYPYB-27)。

摘　　要：目的研究MTHFR基因C677T、A1298C和MTRR基因A66G的多态性及叶酸的补充与甘肃省非综合征性唇腭裂的关系。方法问卷调查患者母亲孕前1~3个月及孕后3个月补充叶酸情况,应用叶酸代谢能力测定试剂盒(荧光法)检测甘肃省76例非综合征性唇腭裂患者和76例对照患者基因多态性,包括MTHFR基因C677T、A1298C和MTRR基因A66G。结果MTHFR基因C677T和A1298基因型频率分布符合Hardy-Weinberg遗传平衡(P>0.05);与对照组相比,实验组TT基因型及T等位基因频率明显上升(P<0.05)。结论甘肃省非综合性唇腭裂的发生与MTHFR基因C677T位点突变相关,与MTHFR基因A1298C和MTRR基因A66G无明显相关性。母亲孕期补充叶酸能有效降低非综合征性唇腭裂的发生风险。TT基因型和CT基因型与孕期叶酸缺乏具有交互致病影响。Objective To study the relationships of polymorphism of MTHFR gene C677 T,A1298 C,MTRR gene A66 G and folic acid supplementation with nonsyndromic cleft lip and palate in Gansu Province.Methods An interview questionnaire survey was conducted in children’s mother.The gene polymorphism of MTHFR gene C677 T,A1298 C and MTRR gene A66 G were examined by PCR-RFLP in 76 patients and the 76 controls.Results The genotypic distribution of C677 T,A1298 C and A66 G were not deviated from the Hardy-Weinberg equilibrium(P>0.05).There was significant difference in TT genotype and T genotype between patients and healthy individuals(P>0.05).Conclusion The C677 T mutation of MTHFR gene was associated with nonsyndromic in Gansu Province,but the A1298 C of MTHFR and A66 G of MTRR were not.Folic acid supplementation in the pregnancy stage is helpful to prevent the occurrence of cleft lip and polate.The CT and TT genotypes had interacted with folic acid deficiency during pregnancy.

关 键 词：非综合征性唇腭裂 亚甲基四氢叶酸还原酶 甲硫氨酸合成还原酶 叶酸 基因多态性 

分 类 号：R780.1[医药卫生—口腔医学]