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家族性肥厚型心肌病(familial hypertrophic cardiomyopathy,FHCM)是一种常染色体显性遗传病,肥厚型心肌病临床表现存在很大差异,从无症状到黑朦、晕厥、胸痛、心律失常及心力衰竭等不尽相同,很多青年患者往往平时无症状或首发症状就是猝死。目前,分子遗传学研究已经确定了HCM至少存在13个致病基因。其中,MYH7基因是最常见的致病基因。国内外的研究数据均提示MYH7基因是突变发生率最高的HCM致病基因,在中国黄种人FHCM患者中MYH7基因突变发生率为41%。到目前为止已经发现了超过400种突变可以引起HCM,而位于MYH7基因上的就近200种。因此作为13个已知的致病基因之一,该文对MYH7基因和FHCM的关系作一综述。
Familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant genetic disease, hypertrophic cardiomyopathy clinical manifestations vary widely, from asymptomatic to black, fainting, chest pain, arrhythmia and heart failure And so different, many young patients are usually usually asymptomatic or the first symptom is sudden death. At present, molecular genetic studies have identified at least 13 pathogenic genes in HCM. Among them, MYH7 gene is the most common pathogenic genes. Domestic and foreign research data suggest that MYH7 gene is the highest mutation incidence of HCM pathogenic genes in Chinese yellow FHCM patients MYH7 gene mutation rate was 41%. Up to now, over 400 mutations have been found to cause HCM, while nearly 200 species are located on the MYH7 gene. Therefore, as one of the 13 known pathogenic genes, the article reviews the relationship between MYH7 gene and FHCM.