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目的在TBX1基因内选取2个已知单核苷酸多态(SNP)G2857C(rs737868)和G2963A(rs28649236),检测其在圆锥动脉干畸形患者和正常人群中的表达情况,分析TBX1基因与圆锥动脉干畸形的相关性。方法2004年3月至2006年5月沈阳军区总医院应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析100例圆锥动脉干畸形患者及100名正常人2个SNP位点基因型;应用列联表法统计分析病例组和对照组各SNP位点基因型及等位基因频率。结果G2963A位点等位基因频率及基因型频率在病例组和对照组中的分布差异有显著性,病例组G等位基因频率明显高于对照组(χ2=5.30,P<0.05)。结论TBX1基因编码区的SNP位点G2963A与人类圆锥动脉干畸形有明显的相关性,具有G等位基因的人发生圆锥动脉干畸形的危险性相对增高。
Objective To select two known single nucleotide polymorphisms (SNPs) G2857C (rs737868) and G2963A (rs28649236) in TBX1 gene for detecting the expression of TBX1 gene in patients with conotruncal heart disease and in normal population. Correlation of arterial malformations. Methods From March 2004 to May 2006, PCR-RFLP was used to analyze two SNP loci in 100 cases of congenital heart disease and 100 normal subjects in Shenyang Military Region General Hospital. Point genotypes. The genotype and allele frequencies of SNPs in case group and control group were statistically analyzed by using contingency table. Results There was significant difference in allele frequency and genotype frequency between G2963A locus and control group. The frequency of allele G was significantly higher in case group than in control group (χ2 = 5.30, P <0.05). Conclusion The SNP locus G2963A in the coding region of TBX1 gene is significantly correlated with human conotruncal artery deformity. The risk of congenital trunk deformity in people with G allele is relatively high.