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目的对肥厚型心肌病患者进行TNNI3K基因进行测序分析,探讨此范围内有无基因突变位点。方法对56例无血缘关系的肥厚型心肌病患者及30名健康对照者的TNNI3K基因第18～19及23外显子进行聚合酶链反应扩增产物,设计内引物直接测序,观察有无基因突变,并对发生突变的患者进行临床特点分析。结果肥厚型心肌病患者及正常对照者在TNNI3K基因第18～19及23外显子未发现突变位点。结论目前在中国人群肥厚型心肌病患者中未发现TNNI3K基因突变位点。
Objective To investigate the sequencing of TNNI3K gene in patients with hypertrophic cardiomyopathy to explore the presence or absence of gene mutation sites in this area. Methods 56 cases of hypertrophic cardiomyopathy in non-hypertensive patients and 30 healthy controls were TNNI3K gene exons 18 to 19 and 23 were amplified by polymerase chain reaction products designed primers direct sequencing to observe whether the gene Mutation, and the clinical characteristics of patients with mutations. Results Hypertrophic cardiomyopathy patients and normal controls in the TNNI3K gene 18 to 19 and 23 exons found no mutation sites. Conclusion No TNNI3K gene mutation was found in hypertrophic cardiomyopathy patients in China at present.