肥厚型心肌病心肌肌钙蛋白Ⅰ相关激酶TNN13K基因突变的研究

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。

Detection of gene mutation of cTnI-interacting kinase TNNI3K in patients with hypertrophic cardiomyopathy

Objective The main objective of this study is to screen in the TNNI3K gene in patients with hypertrophic cardiomyopathy （HCM）, and observe the relation between sequence variations and HCM. Methods The specificity and activation of the kinase were decided by subdomain Ⅱ,Ⅵ B, Ⅶ and Ⅸ. These decisive subdomains were encoded by exon 18,19 and 23 in TNNI3K gene. Fifty-six genetically unrelated patients with HCM and 30 healthy controls were chosen as subjects. The primer combinations of exon 18-19 and exon 23 were designed, the 2 target fragments were amplified through amplified PCR method. Then the PCR products were sequenced by the dideoxy chain termination method directly. Results No mutation at exonl8-19 and exon 23 in HCM patients or healthy controls were identified. Conclusions This is the first study to detect TNNI3K gene mutation in patients with HCM. Up to now, no TNNI3K gene mutation is found in Chinese patients with HCM.