叶酸代谢相关基因多态性与山西地区非综合征性唇腭裂的相关性研究  

Association between folate metabolism-related genes and non-syndromic cleft lip and palate in the population of Shanxi Province

作　　者：南欣荣[1,2] 任一雄[3] 李瑞芳[1] 王江波[4] 

机构地区：[1]山西医科大学第一医院口腔科,太原030001 [2]太原市太航医院 [3]山西省人民医院口腔科 [4]长治医学院

出　　处：《实用口腔医学杂志》2015年第1期96-100,共5页Journal of Practical Stomatology

基　　金：山西医科大学科技创新基金(编号:01201019)

摘　　要：目的:研究叶酸代谢相关基因MTHFR基因rsl801133、MTHFD1基因rs2236225位点多态性与非综合征性唇腭裂(NSCL/P)的关系。方法:通过聚合酶链反应-限制性片段长度多态性方法,检测265例NSCL/P患者和276例正常对照者的MTHFR基因rsl801133、MTHFD1基因rs2236225位点的多态性。结果:MTHFR基因rsl801133位点、MTHFD1基因rs2236225位点的基因型频率分布符合Hardy-Weinberg平衡;MTHFR基因rsl801133位点、MTHFD1基因rs2236225位点的等位基因频率分布在NSCL/P组与对照组之间差异无统计学意义(P>0.05)。结论:MTHFR基因rsl801133位点、MTHFD1基因rs2236225位点的多态性与NSCL/P的发生无关。Objective：To investigate the association of the rsl801133 polymorphisms of the methylenetetrahydrofolate reductase （MTHFR）gene and rs2236225 polymorphisms of the methylenetetrahydrofolate dehydrogenase（MTHFD1）gene with non-syndromic cleft lip with or without cleft palate （NSCL/P）in Chinese population of Shanxi Province.Methods：The rsl801133 polymorphism of MTHFR gene and rs2236225 polymorphism of MTHFD1 gene were examined by PCR-RFLP in 265 patients with NSCL/P and 276 healthy controls.Data were statistically analysed.Results：The genotypic distribution of rsl801133 and rs2236225 was not deviated from the Hardy-Weinberg equilibrium.There was no significant difference in allele frequencies of rsl801133 and rs2236225 variants between patients with NSCL/P and healthy individuals（P 〈0.05）.Conclusion：The polymorphism of MTHFR gene and MTHFD1 gene was not associated with NSCL/P in Chinese population of Shanxi Province.

关 键 词：亚甲基四氢叶酸还原酶(MTHFR) 亚甲基四氢叶酸脱氢酶1(MTHFD1) 多态性 非综合征性唇腭裂(NSCL/P) 

分 类 号：R782.2[医药卫生—口腔医学]