心肌肌钙蛋白Ⅰ基因Asp127Tyr突变与肥厚型心肌病

目的 研究中国人群肥厚型心肌病(HCM)患者心肌肌钙蛋白Ⅰ基因突变的发生情况,并对基因型与临床表型之间的关系进行分析.方法 对65例HCM先证者及60例正常对照者进行聚合酶链反应扩增心肌肌钙蛋白Ⅰ基凶第7、8号外显子片段,扩增PCR产物以测序的方法寻找突变位点,并了解基因型明确的HCM患者的临床特点.结果 在1例40岁男性患者的心肌肌钙蛋白Ⅰ基因第7号外显子卜发现了一个新的突变位点Aspl27Tyr.60例正常对照者中未见异常.结论 心肌肌钙蛋白Ⅰ发挥抑制心肌收缩的作用,心肌肌钙蛋白Ⅰ基因Asp127Tyr突变可能导敛HCM.

Cardiac troponinⅠgene mutation (Asp127Tyr)in a Chinese patient with hypertrophic cardiomyopathy

Objeetive To observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype.Methods Specimens of peripheral blood were collected and the genome DNA was extracted in 65 unrelated patients with hypertrophic cardiomyopathy and 60 normal controls.The exon 7 and 8 of cardiac troponin?gene were screened with PCR and direct sequencing technique.Results A missense mutation in the exon 7 of the cardiac troponin?gene Was identified in a 40-year-old male patient with hypertrophic cardiomyopathy (Asp127Tyr)which was absent in the controls.Conclusion A novel missense mutation of cardiac troponin?was identified in a patient with hypertrophic cardiomyopathy,this mutation might be the disease-causing gene mutation in this Chinese patient.