肌球蛋白重链Val606Met突变基因型与家族性肥厚型心肌病

目的 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.方法 对3个家族性HCM的先证者进行β-肌球蛋白重链基因(β-MHC)扫描,聚合酶链反应扩增其功能区外显子片段,双脱氧末端终止法测序.对阳性测序结果者进行家系中其他成员筛查,并分析患者临床表型特点.结果 在其中1个家系发现Val606Met杂合突变,而正常对照组同一位置未见异常,属于在我国HCM家系中首次发现.结论 MYH7基因16号外显子Val606Met错义突变为我国家族性HCM的致病基因之一,其临床表型的异质性提示多因素参与了HCM的发生及外显.

The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy family

Objective To explore the disease-causing gene mutation in Chinese families with hypertrophic cardiomyopathy(HCM)and to analyze the correlation between the genotype and phenotype.Methods Samples of peripheral blood were collected from three Chinese families with HCM(at least two HCM patients existed/family).The exons in the functional regions of the beta myosin heavy chain gene (MYH7)were amplified with PCR and the products were sequenced.Results A Val606Met missen mutation was identified in the exon 16 of MYH7 gene in a Chinese family and this mutation was identified in aU HCM patients(n=4)and there was also a 15-years-old young mutation carrier who was not HCM patient now(penetrance of 80%).This mutation was not identified in other healthy family members in this family,in other 2 Chinese familiar HCM families and in 120 non-HCM control Patients.Conclusion The Val606Met missen mutation is closely associated with familiar HCM in a Chinese family which is associated with clinical phenotype with a penetrance of 80%.