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目的研究中国汉族人群家族性肥厚型心肌病(HCM)TNNI3基因突变。方法对家族性HCM家系的先证者13例及100例正常人群进行TNNI3基因筛查,PCR扩增其功能区的外显子片段,双脱氧末端终止法测序,对阳性结果患者进行家系调查。结果 1个家系中发现TNNI3基因c.470C>T突变,该突变使TNNI3基因第157位氨基酸由丙氨酸变为缬氨酸;而在正常对照组同一位置未见异常。该家系中1例HCM患者晚期呈扩张型心肌病样改变。结论携带TNNI3基因c.470C>T突变的HCM患者晚期有心肌变薄、心腔扩张的趋势。
Objective To investigate the mutation of TNNI3 gene in familial hypertrophic cardiomyopathy (HCM) in Chinese Han population. Methods TNNI3 gene was screened in 13 probands and 100 normal subjects of familial HCM pedigrees. Exon fragments of functional regions were amplified by PCR and sequenced by dideoxy terminator method. The pedigrees of positive patients were investigated. Results The c.470C> T mutation of TNNI3 gene was found in one pedigree. This mutation changed the 157th amino acid of TNNI3 gene from alanine to valine; while no abnormality was found in the same place of normal control group. One of the HCM patients in this pedigree showed dilated cardiomyopathy-like changes late in life. CONCLUSION: Patients with HCM carrying c.470C> T mutation of TNNI3 gene tend to have thinning of myocardium and dilatation of heart cavity in late stage.