探讨MTHFR基因多态性与新疆地区人群唇腭裂发病的关系

目的 探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T和A1298C多态性与新疆地区部分人群非综合征性唇腭裂（NSCL/P）发病的关系.方法 采用病例对照设计,试验组为新疆地区NSCL/P患儿44例（维吾尔族12例,汉族32例）；对照组为非唇腭裂患儿62例（维吾尔族26例,汉族36例）.应用聚合酶链式反应-限制性片段长度多态性方法（PCR-RFLP）对MTHFR基因C677T和A1298C进行多态性检测.结果 新疆地区汉族NSCL/P的MTHFR C677T和A1298C位点基因型及等位基因频数与对照组差异无统计学意义（x2=0.07,P ＞0.05;X2 =0.30,P＞0.05）；维吾尔族NSCL/P的MTHFR C677T位点基因型及等位基因频数与对照组差异无统计学意义（X2=0.12,P ＞0.05）,而MTHFR A1298C位点基因型及等位基因频数与对照组比较其差异有统计学意义（X2=8.90,P ＜0.01）.结论 新疆地区汉族MTHFR基因C677T和A1298C位点多态性可能与NSCL/P的发生无关；维吾尔族MTHFR基因C677T位点多态性与NSCL/P的发生可能无关,而A1298C位点多态性与NSCL/P的发生相关,可能是NSCL/P发病的易感因素.

Relationship between genetic polymorphism of MTHFR and cleft lip and palate in Xinjiang population

Objective To discuss the relationship between NSCL/P and genetic polymorphism of MTHFR C677T and A1298C in Xinjiang population.Methods Case-control study design was applied.Forty four NSCL/P cases （12 Uygur,32 Han） were employed as experimental group,and 62 cases （26 Uygur,36 Han） diagnosed as upper respiratory tract infection without cleft lip or palate as control group.MTHFR genotypes were determined by PCRRFLP.Results There were no statistical difference of genotype frequency and allele frequency of MTHFR C677T and A1298Cbetween that in Chinese Han cases with NSCL/P and that in the control group（x2 =0.07,P ＞ 0.05;x2 =0.30,P ＞ 0.05）.Compared with control group,there was no statistical difference of the genotype frequency and allele frequency of MTHFR C677T （X2 =0.12,P ＞ 0.05）,but significant difference of the genotype frequency and allele frequency of MTHFR A1298C（X2 =8.90,P ＜ 0.01）in Uygur cases.Conclusion It suggested that the genetic polymorphism of MTHFR C677T and A129SC might not be related to the NSCL/P in Chinese Han,and that one of C677T might also not be related with the occurrence of the NSCL/P in Uygur people.However,the genetic polymorphism of MTHFR A129SC might be related to the NSCL/P in Uygur people.