中文摘要：

目的探讨脑胶质瘤相关的癌基因同源1（GLI1）基因R405Q多态与法洛四联症（TOF）的相关性。方法选择TOF患儿112例（病例组）和200名健康体检儿童（对照组），采用病例对照研究，应用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）检测GLI1基因R405Q多态（NCBISNP1D：rs114543757），分析基因型频率和等位基因频率在病例组和对照组的分布，比较不同基因型和等位基因与TOF患病风险的关系。结果GLI1基因R405Q多态位点基因型频率在病例组和对照组中的分布差异无统计学意义（x2=5．317，P=0．07），但等位基因频率在病例组和对照组中的分布差异有统计学意义（x。=6．790，P=0．009），且A等位基因携带者患病风险高于G等位基因携带者（OR=1．561，95％CI为1．116—2．185）。结论GLI1基因R405Q多态与TOF具有明显的相关性，具有A等位基因的个体患病风险增高，GLI1基因可能是TOF的遗传易感基因。

英文摘要：

Objective To investigate the association between R405Q polymorphism of GLI1 gene and tetralogy of fallot（TOF）. Methods In the case-control study, the R405Q polymorphism of GLI1 gene in 112 children with TOF and 200 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. The distribution of genotype and allele frequency at R405Q polymorphism site were analyzed and to investigate its relationship with the risk of TOF. Results The distribution of genotype frequency at R405Q polymorphism site was not different between TOF group and the healthy control group（ ~2 = 5. 317 ,P = 0. 07）. However, the distribution of allele frequency at R405Q polymorphism site was significantly different between TOF group and the healthy control group （ X2 = 6. 790, P = 0. 009 ）, and the relative risk for TOF in A allele carriers was higher than that in G allele carriers （OR = 1. 561,95% CI 1. 116 -2. 185 ）. Conclusion The R405Q polymorphism of GLI1 gene is associated with TOF and people with A allele have higher risk with TOF. GLI1 gene might be the genetic susceptibility gene of TOF.