【摘要】 目的研究皖南地区汉族人群家族性肥厚型心肌病(HCM)的致病基因β肌球蛋白重链(MYH7)突变,并分析基因型与表型的关系。方法对4个HCM家系先证者的MYH7基因,经PCR扩增其外显子片段,用双脱氧末端终止法测序做突变初筛,对阳性结果患者进行家系调查,分析其临床表型。结果在MYH7基因18外显子中发现其中一家系中患者发现Arg663His突变,另一家系患者发现nt2013c缺失、nt2025C插入,此为一国内罕见移码突变。结论MYH7基因可能是皖南地区HCM较常见致病相关基因之一,其某些突变可在同一家系内遗传并致病,所致HCM临床症状较轻,症状出现较晚、进展较慢。同一突变携带者的临床表型存在异质性提示多因素参与了HCM的发生和发展。更多还原

【Abstract】 Objective:To study the disease-causing in Chinese patients of Wannan area with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation. Methods: Four Chinese pedigrees with HCM were chosen for the study. The exons in the functional regions of the β-myosin heavy chain gene were amplified with PCR and the products were sequenced,genotyped,and phenotype analyzed. Results: Mutation of Arg663His and the nt2013C reduce and nt2025 C insert in β-myosin heavy chain gene were identified in exon18. Conclusion:MYH7 mutations were associated with a higher risk of HCM in the Han Chinese and identical mutation might result in different phenotypes suggesting that multiple factors might be involved in the pathogenesis of familiar HCM.更多还原