【摘要】 目的探讨山东地区亚甲基四氢叶酸还原酶(MTHFR)基因C677T的多态性与非综合征性唇腭裂(NSCL/P)的关系。方法运用聚合酶链反应-限制性内切酶片段长度多态性分析技术(PCR-RFLP),对2006年8月至2008年8月曾在齐鲁医院治疗的来自山东地区NSCL/P患儿35例和健康查体的正常儿童51例MTHFR基因的C677T基因型检测分析。结果患者组与对照组的基因型构成比有统计学意义(χ2=8.770,P=0.0121)。对T分析,计算得到携带T等位基因的儿童患非综合征性唇腭裂的危险性是不携带T等位基因儿童的2.568倍(OR=2.568,95%CI:1.324-4.979)。TT突变纯合子患非综合征性唇腭裂的危险性是非TT纯合子的3.095倍(OR=6.088,95%CI:1.240-7.722)。结论 MTHFRC677T的T等位基因可能是山东地区非综合征性唇腭裂的遗传风险因子。更多还原

【Abstract】 Objective:To study non-syndrome cleft lip and palate and the methylenetetrahydrofolate reductase gene C677T polymorphism in Shandong province.Methods:35 cases of Shandong NSC/P patients and 51 normal subjects,using polymerase chain reaction-restriction fragment length polymorphism analysis(PCR-RFLP),detection of MTHFR C677T genotype,and a comparative analysis.Resluts:The patient group and normal group of genotypes Hardy-Weinberg equilibrium test,P>0.05,consistent with Hardy-Weinberg equilibrium.Patient group and control group than those with genotype constitutes a significant(χ2 = 8.770,P= 0.0121).Of T analysis,calculated by carrying T allele of children suffering from non-syndromic cleft lip and palate is not carrying the risk T allele of 2.568 times the child(OR = 2.568,95% CI :1.324-4.979).T T homozygous mutation in non-syndromic cleft lip and palate patients the risk of non-T T homozygotes of the 3.095-fold(OR = 6.088,95% CI :1.240-7.722).Conclusion:MTHFR C677T mutation may be the Shandong region of non-syndrome cleft lip and palate in the genetic risk factors.更多还原