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[目的]探讨中国汉族家族性肥厚型心肌病(HCM)的主要致病基因-肌球蛋白重链(MYH7)突变位点,并分析基因型及其临床表现.[方法]选择9例HCM汉族家系先证者进行HCM常见基因检测,即 TNNT2、MYBPC3、MYH7、TNNI3基因全外显子扩增和高通量测序,并使用Sanger测序法对家系成员和健康志愿者进行验证.观察记录两组一般体格检查、临床症状、心电图、超声心动图以及3.0T心脏磁共振,定期进行门诊或电话随访.[结果]1个家系中发现MYH7基因上第22号外显子Lys847del突变,而正常对照组同一位置未见异常.该家系中除先证者外还存在2例携带该基因突变者,为其母亲及女儿,先证者母亲在进行家族筛查时确诊为HCM,其女儿不符合HCM诊断标准.[结论]MYH7基因22号外显子Lys847del突变可能为我国家族性HCM的致病性突变位点,携带该突变基因型的肥厚型心肌病患者可能呈现相似的临床表型.“,”[Objective]To investigate the mutation site of the main pathogenic gene MYH7 (beta-myosin heavy chain gene) in Chinese Han family with familial hypertrophic cardiomyopathy (HCM), and to analyze the correlation between their genotype and clinical phenotype.[Methods]A total of 9 families suffering from HCM were chosen for the study. The exons in the functional regions of the beta myosin heavy chain gene were amplified with PCR and the products were sequenced, including TNNT2 , MYBPC3 ,MYH7,TNNI3.The identified mutations were further detected through bidirectional Sanger sequencing in all family members and 60 healthy volunteers. Pedigree analysis included physical examination, clinical symptoms, electrocardiography(ECG), echocardiography(UCG) and 3.0T cardiac magnetic resonance (CMR),and regular outpatient visits or telephone follow-up.[Results] The Lys847del mutation in exon 22 of beta-myosin heavy chain gene was found in one family. However, no abnormality was observed in the same position in all healthy volunteers In this family, beside the proband showed Lys847del mutation, his mother and his daughter carried the same mutation of exon 22 in MYH7 gene. The mother of the proband was diagnosed as HCM following family screening and daughter did not meet the diagnostic criteria for HCM.[Conclusion] The Lys847del mutation in exon 22 of MYH7 may be the pathogenic mutation gene of familial HCM in China. Patients with hypertrophic cardiomyopathy with this mutant genotype may present a similar clinical phenotype.