Objective:To explore the relationship of NSCL/P with MTHFR gene polymorphism in Xinjiang Uyghur and Han popula-tion and the ethnic difference.Methods:rs1801131 and rs1801133 polymorphism was detected by SNaPshot 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 sta-tistically 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.Rs1801131AC and rs1801133CC conjoint is relevant to NSCL/P,and the risk in Uyghur is higher than in Han.MTHFR rs1801131 gene polymorphism may not be relat-ed with NSCL/P in Uyghur or Han.%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，SNaPshot 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。
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