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作 者:韩秀敏[1] 朱鲜阳[1] 胡晓芳[2] 盛晓棠[1] 魏明[1] 张端珍[1] 崔春生[1]
机构地区:[1]沈阳军区总医院先心病内科,辽宁沈阳110016 [2]沈阳军区总医院检验科,辽宁沈阳110016
出 处:《中国实用内科杂志》2007年第2期130-132,共3页Chinese Journal of Practical Internal Medicine
摘 要: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 Two single nucleotide polymorphisms (SNPs) in TBX1 gene, G2857C ( rs737868 ) and G2963A ( rs28649236), were chosen to investigate their distribution in contruncal defects (CTD) patients and normal contr,)Is in order to determine the relationship between TBX1 gene and CTD. Methods By PCR - RFLP, genotypes of these two SNPs were analyzed in 100 patients with CTD and 100 normal controls during Mar. 2004 to May. 2006. 2 test was applied to analyze the genotype frequency and allele frequency between CTD groups and control groups. Results Remarkable signifi. eanee were observed at G2963A between CTD groups and normal controls, the G allele frequency in CTD groups were much higher than that in normal controls ( x^2 = 5.30,P 〈 0. 05 ). Conclusion G2963A in the coding-region of TBXlgene was associated with CTD and people with G allele have much higher risk in the pathogenesis of CTD.
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