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为研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点,分析基因型与临床表型的相互关系,文章在1个中国汉族HCM家系中进行心脏肌钙蛋白T(TNNT2)基因、心脏肌球蛋白结合蛋白C(MYBPC3)基因和心脏β-肌球蛋白重链(MYH7)基因的突变筛查,聚合酶链式反应(PCR)扩增基因功能区外显子片段并对PCR产物进行测序分析。结果表明:在该家系接受调查的7名成员中有4名成员携带MYH7基因c.1273G>A杂合突变,该突变位点位于MYH7基因的14号外显子并使425位的甘氨酸(Gly)转换为精氨酸(Arg)。该突变首次在国内HCM家系中发现,突变携带者的临床表型在家系内部呈现明显的异质性。该家系成员TNNT2及MYBPC3基因未发现突变且正常对照组相同位置未发现异常。MYH7基因是我国家族性HCM的致病基因之一,携带c.1273G>A突变的肥厚型心肌病患者临床表型差异明显,提示可能有其它因素参与了肥厚型心肌病的发展过程。
To investigate the relationship between genotypes and clinical phenotypes in Chinese familial hypertrophic cardiomyopathy (HCM), we investigated the relationship between genotypes and clinical phenotypes in a Chinese Han HCM pedigree with cardiac troponin T (TNNT2) (MYBPC3) gene and cardiac myosin heavy chain (MYH7) gene were screened by polymerase chain reaction (PCR) to amplify exon fragments of gene function region PCR products were sequenced and analyzed. The results showed that four members of the seven members of the pedigree carried the c.1273G> A heterozygous mutation of MYH7 gene, which is located on exon 14 of MYH7 gene and makes glycine (Gly) at position 425. Convert to arginine (Arg). This mutation was first found in HCM pedigrees in China. The clinical phenotype of mutation carriers showed obvious heterogeneity in pedigrees. The family members TNNT2 and MYBPC3 gene mutation was not found in the same place as the normal control group was not abnormal. MYH7 gene is one of the causative genes of familial HCM in China. The clinical phenotype of patients with hypertrophic cardiomyopathy carrying c.1273G> A mutation is significantly different, suggesting that other factors may be involved in the development of hypertrophic cardiomyopathy.