Abstract: Objective: This study aimed to investigate the association between  the rs1801133 polymorphisms of the MTHFR gene and non-syndromic cleft lip with or without cleft palate (NSCL/P) in Shanxi population. Methods: We included a total of 334 individuals with non-syndromic cleft lip with or without cleft palate. 314 patients suffered with impacted wisdom teeth extraction were used as control. The rs1801133 polymorphisms of the MTHFR gene was examined by PCR-RFLP. Results: The genotypic distribution of rs1801133 was not deviated from the Hardy-Weinberg equilibrium. There was no significant difference in genotype and allele frequencies for MTHFR rs1801133 variants between patients and control individuals (P>0.05). Conclusion: The rs1801133 polymorphism of MTHFR gene was not associated with NSCL/P in Shanxi population.

Key words:  methylenetetrahydrofolate reductase (MTHFR)； , non-syndromic cleft lip with or without cleft palate(NSCL/P)； , polymorphisms；association

摘要： 目的：研究亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase ，MTHFR）基因rs1801133位点多态性与非综合征性唇腭裂(NSCL/P)的关系。方法：采用聚合酶链反应-限制性片段长度多态性方法，检测334例非综合征性唇腭裂患者和314例正常对照组的MTHFR基因rs1801133位点的多态性。结果：MTHFR基因rs1801133位点基因型频率分布符合Hardy-Weinberg平衡；MTHFR基因rs1801133位点基因型及等位基因的分布在NSCL/P组与对照组之间均无统计学意义(P>0.05)。结论：MTHFR基因rs1801133位点多态性与山西人群非综合征性唇腭裂的发生无关。

关键词: 亚甲基四氢叶酸脱氢酶, 非综合征性唇腭裂, 多态性, 相关性

CLC Number: 

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• R782.21

• R782.22