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目的 检测中国心手综合征患者 TBX5基因突变。方法 利用单链构象多态性分析和测序方法 ,对 7个心手综合征患者家系进行 TBX5基因突变检测。结果 发现 3个家系患者有单链构象多态性改变 ,经测序证实为 3个新位点基因突变 :1个心手综合征家系患者为 TBX5基因单个碱基缺失引起移码突变 ,2个心手综合征家系为 TBX5基因碱基替换引起错义突变。结论 中国人 TBX5基因突变可引起心手综合征。
Objective To detect the TBX5 gene mutation in patients with Chinese heart syndrome. Methods Single-strand conformation polymorphism analysis and sequencing method were used to detect the TBX5 gene mutation in the pedigrees of seven patients with cardiac syndrome. The results showed that three families of patients with single-strand conformational polymorphism, confirmed by sequencing of three new locus mutations: a heart-hand syndrome family of patients with a single base deletion of the TBX5 gene caused a frameshift mutation, two hearts Hand syndrome syndromes cause missense mutations in TBX5 gene base substitutions. Conclusion Chinese TBX5 gene mutation can cause heart syndrome.