山西人群MTHFD1基因rs2236225多态性与非综合征性唇腭裂的相关性

Association between rs2236225 polymorphism in MTHFD1 gene and non-syndromic cleft lip with or without cleft palate in Shanxi population

目的:探讨亚甲基四氢叶酸脱氢酶1基因(MTHFD1)rs2236225位点单核苷酸多态性(SNP)与非综合征性唇腭裂(NSCL/P)的相关性。方法:收集病例组294例非综合征性唇腭裂患者和对照组126名正常儿童外周血样本,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测MTHFD1基因rs2236225位点基因型,进行病例-对照研究。结果:在山西人群中,NSCL/P组rs2236225位点基因型和等位基因的频率与正常对照组比较差异均没有显著性(P=0.178,P=0.111)。结论:在山西人群中MTHFD1基因rs2236225位点单核苷酸多态性(SNP)与非综合征性唇腭裂的发生无相关性。

Objective：To investigate the association between the rs2236225 polymorphism in MTHFD1 gene and non-syndromic cleft lip with or without cleft palate（NSCL/P） in Shanxi population.Methods： Blood samples from 294 NSCL /P patients and 126 controls were collected.DNA was extracted and PCR-RFLP was used to identify genotypes of the samples.Case-control analyses were also carried out.Results： There was no statistical difference in the distribution frequency of both genotypes and alleles when the data of the cases were compared with those of the control children at the rs2236225（P=0.178,P=0.111）.Conclusion： The polymorphism of rs2236225 in MTHFD1 gene is not associated with NSCL /P in shanxi population.