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目的研究14例中国汉族人群家族性肥厚型心肌病患者心肌肌钙蛋白I(TNNI3)基因突变情况。方法对14例家族性肥厚型心肌病先证者的聚合酶链反应扩增产物进行单链构象多态性分析,于TNNI3基因第3、5、7、8外显子范围内寻找突变位点。结果 14例临床确诊的家族性肥厚型心肌病患者TNNI3基因第3、5、7、8外显子,除1例患者179位密码子存在GAG-GAA多态性外,未发现有意义的突变。结论所研究的14例家族性肥厚型心肌病患者群未发现国外报道20余种TNNI3基因突变类型,与国外相比,中国汉族人群家族性肥厚型心肌病患者基因突变可能存在不同特点。
Objective To investigate the cardiac troponin I (TNNI3) gene mutation in 14 Chinese Han population with familial hypertrophic cardiomyopathy. Methods Fourteen cases of familial hypertrophic cardiomyopathy were analyzed by single-strand conformation polymorphism (PCR) of the amplified products of polymerase chain reaction (PCR) to find the mutation sites in the exon 3, 5, 7 and 8 of TNNI3 gene . Results No significant mutations were found in exon 3, 5, 7 and 8 of the TNNI3 gene in 14 clinically diagnosed patients with familial hypertrophic cardiomyopathy, except for the GAG-GAA polymorphism at codon 179 in 1 patient . Conclusions There were no more than 20 TNNI3 gene mutations reported in the 14 patients with familial hypertrophic cardiomyopathy in our study. Compared with other countries, gene mutations in familial hypertrophic cardiomyopathy in Chinese Han population may have different characteristics.