非综合征型唇腭裂与新疆维吾尔族、汉族MTHFR基因多态性的研究  

Association of the MTHFR gene polymorphism with non-syndromes cleft lip with or without cleft palate in Xin Jiang Uyghur and Han population

作　　者：余雷 代红燕 潘慧文[3] 祁恩春 古力巴哈·买买提力[5] 洪玉[6] 

机构地区：[1]上海捷瑞生物工程有限公司,201619 [2]新疆医科大学基础医学院 [3]江苏大学附属人民医院心胸外科 [4]新疆伊犁州新华医院口腔科 [5]新疆医科大学第五附属医院口腔科 [6]杭州师范大学医学院预防医学系

出　　处：《实用口腔医学杂志》2016年第2期196-201,共6页Journal of Practical Stomatology

基　　金：国家自然科学基金(编号:31160231);浙江省重点科技创新团队计划资助(编号:2011R50021);杭州师范大学科研启动基金(编号:PF14002004010)

摘　　要：目的:探讨新疆维吾尔族、汉族非综合征型唇腭裂与MTHFR基因多态性的关系和民族差异。方法:170例NSCL/P儿童患者和100例健康儿童对照,SNa Pshot分型方法检测rs1801131、rs1801133位点多态性,分析基因型、等位基因频率和2个位点联合作用与NSCL/P的关系以及民族间差异。结果:rs1801133TT与T等位基因在维、汉两民族间有统计学差异(P<0.05);rs1801133CT与CT+TT基因型在总病例组和总对照组间均有统计学差异(P<0.05);rs1801131和rs1801133的联合分析在维族内、汉族内、两民族间、维汉总人群中病例组和对照组均有统计学差异(P<0.05);rs1801131多态性在维族内、汉族内、两民族间以及维汉总人群中均无统计学差异(P>0.05)。结论:rs1801133TT与T等位基因的汉族比维吾尔族更易罹患NSCL/P;rs1801131AC和rs1801133CC联合作用与NSCL/P相关且维吾尔族罹患风险高于汉族;rs1801131多态性与NSCL/P不相关并无民族差异;rs1801133CT与CT+TT基因型均是避免疾病的保护因素。Objective： To explore the relationship of NSCL/P with MTHFR gene polymorphism in Xinjiang Uyghur and Han population and the ethnic difference. Methods： rs1801131 and rs1801133 polymorphism was detected by SNa Pshot genotype method in 170 children with NSCL / P and 100 healthy controls of Uyghur and Han population. Results： Rs1801133 TT and T allele was statistically difference between 2 nationalities（ P 〈0. 05）,Rs1801133 CT and CT ＋ TT genotypes in total case group and control group were statistically different（ P 〈0. 05）; Rs1801131 and rs1801133 conjoint analysis showed that between the 2 nationalities and between case and control groups of total population were statistically different（ P 〈0. 05）; rs1801131 genotype between 2 nationalities or total cases and controls were not statistically different（ P 〉0. 05）. Conclusion： Rs1801133 TT and T allele in Han nationality are more likely to suffer from NSCL / P than in Uyghur,rs1801133 CT and CT ＋ TT genotypes are protective factors. Rs1801131 AC and rs1801133 CC conjoint is relevant to NSCL / P,and the risk in Uyghur is higher than in Han. MTHFR rs1801131 gene polymorphism may not be related with NSCL / P in Uyghur or Han.

关 键 词：新疆维吾尔族 汉族 MTHFR基因多态性 NSCL/P 

分 类 号：R782.2[医药卫生—口腔医学]