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目的探讨TBX1基因多态性与先天性心脏病(先心病)的相关关系。方法选择2004-10—2005-03在哈尔滨医科大学附属第二医院住院的先心病患儿99例,对照组96名(与先心病患儿年龄相近的健康儿童)。应用小剂量DNA提取技术及采用ABI Prism SNaPshot方法,检测了先心病患儿和对照组儿童的TBX1基因多态性。结果经χ2检验,TBX1基因各基因型频率在对照组、先心病组之间均无显著性差异(P>0·05);各等位基因频率在两组人群中差异均无显著性意义(P>0·05)。结论未发现TBX1基因多态性与先天性心脏病之间存在相关关系。
Objective To investigate the relationship between TBX1 gene polymorphism and congenital heart disease (CHD). Methods Totally 99 children with congenital heart disease admitted to the Second Affiliated Hospital of Harbin Medical University from 2004-10 to 2005-03 were enrolled, and 96 control children (healthy children with similar age to congenital heart disease) were selected. TBX1 gene polymorphism was detected in children with CHD and control children by using low-dose DNA extraction technique and ABI Prism SNaPshot method. Results There was no significant difference in genotype frequency of TBX1 between control group and CHD group (χ2 test) (P> 0.05). There was no significant difference in allele frequency between two groups P> 0.05). Conclusion There is no correlation between TBX1 gene polymorphism and congenital heart disease.