中国山西地区人群亚甲基四氢叶酸脱氢酶1和蛋氨酸合成酶基因多态性与非综合征性唇腭裂  

Association between genetic polymorphism of methylenetetrahydrofolate dehydrogenase 1,mehionine synthase and non-syndromic cleft lip with or without cleft palate in Shanxi,China

作　　者：李瑞芳[1] 马雪芳 南欣荣[1] 

机构地区：[1]山西医科大学第一医院口腔颌面外科,太原030001 [2]晋中市第一人民医院口腔颌面外科,晋中030600

出　　处：《国际口腔医学杂志》2013年第2期144-147,共4页International Journal of Stomatology

基　　金：山西省科技攻关基金资助项目(20110313011-6)

摘　　要：目的研究亚甲基四氢叶酸脱氢酶(MTHFD)1和蛋氨酸合成酶(MTR)基因多态性与非综合征性唇腭裂(NSCL/P)发生的相关性。方法取187例NSCL/P患者裂隙处的黏膜组织为试验组,157例对照组的正常的口腔黏膜组织为对照组,检测MTHFD1基因(rs2236225位点)和MTR(rs1805087位点)基因型,比较两组的基因型和等位基因频率,分析基因型分布频率、两个基因的共同作用及其与NSCL/P的发生是否相关。结果 MTR、MTHFD1在两组间的基因型和等位基因分布上的差异无统计学意义(P>0.05);MTR的AG、GG基因型相对于AA基因型的比值比分别为:0.308、0.501。MTHFD1的GA、AA基因型相对于GG基因型的比值比分别为:0.812、0.196。AG-AA型、GG-GA型、GG-AA型相对于AA-GG型的比值比分别是2.078、4.508、6.497。结论 MTHFD1和MTR的基因多态性均与NSCL/P的发生之间没有相关性,但是,它们之间相互作用是NSCL/P发生的危险因素。Objective To investigate the association between genetic polymorphism of methylenetetrahydrofolate dehydrogenase （MTHFD）1 and mehionine synthas （MTR） and non-syndromic cleft lip with or without cleft palate （NSCL/P）. Methods Collected the mucosa of the experimental group consisted of 187 NSCL/P patients and control group consisted of 157 normal mucosa. DNA was extracted and identified the genotypes of the samples： MTHFD1 （rs2236225） and MTR（rs1805087）. Compared with two groups of genotype and allele frequency, analysis of genotype distribution frequency and relationship between two genes＇ interaction with NSCL/P. Results There was no statistical difference in genotype and gene frequencies between case group and control group of MTR and MTHFD1 （P〉0.05）. The odds ratio of genotype AG, GG of MTR were 0.308, 0.501. The odds ratio of genotype GA, AA of MTHFD1 were 0.812, 0.196. According to AA-GG, the odds ratio of genotype between AG-AA, GG-GA and GG- AA were 2.078, 4.508 and 6.497. Conclusion None association between genetic polymorphism of MTHFD1, MTR and NSCL/P, but the interaction of MTHFD1 and MTR is the risk factor of the NSCL/P.

关 键 词：非综合征性唇腭裂 蛋氨酸合成酶 亚甲基四氢叶酸脱氢酶1 基因多态性 

分 类 号：R782.2[医药卫生—口腔医学]