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目的探讨TBX1基因T350M多态性与法洛四联症(TOF)的相关性。方法选择TOF患儿112例(TOF组)。其中男69例,女43例;年龄(4.27±1.93)岁。200例健康体检儿童作为健康对照组。其中男102例,女98例;年龄(5.68±2.17)岁。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结合DNA测序进行TBX1基因T350M位点(NCBI SNPID:rs4819522)多态性检测,分析基因型频率和等位基因频率在病例组和健康对照组的分布,比较不同基因型和等位基因与TOF患病风险的关系。应用SPSS13.0软件进行分析。结果在所有312例样本中,TBX1基因T350M多态位点存在C/T多态。T350M多态位点基因型频率在TOF组与健康对照组中的分布存在统计学差异(χ2=8.220,P=0.016),等位基因频率在TOF组与健康对照组中的分布亦存在显著性差异(χ2=9.544,P=0.002),且T等位基因携带者患TOF的风险高于C等位基因携带者(OR=1.746,95%CI1.224~2.490)。结论 TBX1基因T350M多态性与TOF具有明显的相关性,具有T等位基因的个体TOF患病风险增高,TBX1基因可能是TOF的遗传易感基因。
Objective To investigate the association between TBX1 T350M polymorphism and tetralogy of Fallot (TOF). Methods 112 children with TOF were selected (TOF group). There were 69 males and 43 females, with a mean age of (4.27 ± 1.93) years. 200 healthy children as healthy control group. There were 102 males and 98 females with a mean age of 5.68 ± 2.17 years. A case-control study was conducted to detect the polymorphism of TBX1 gene T350M (NCBI SNPID: rs4819522) by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. The frequency of genotype and allele frequencies were analyzed in cases Group and healthy control group distribution, comparison of different genotypes and alleles and TOF risk of disease. Application SPSS13.0 software for analysis. Results In all 312 samples, there was a C / T polymorphism in the T350M polymorphism site of TBX1 gene. There was a significant difference in the distribution of genotype frequency of T350M polymorphism between TOF group and healthy control group (χ2 = 8.220, P = 0.016). The distribution of allele frequency in TOF group and healthy control group was also significant (Χ2 = 9.544, P = 0.002), and the risk of TOF in T allele was higher than that in C allele (OR = 1.746,95% CI 1.224-2.490). Conclusion The T350M polymorphism of TBX1 gene is significantly associated with TOF. The risk of TOF in individuals with T allele is increased, and the TBX1 gene may be the genetic susceptibility gene in TOF.