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目的研究中国汉族人群家族性肥厚型心肌病的致病基因突变位点,对基因型与临床表型之间的关系进行分析。方法对8个肥厚型心肌病家系的先证者进行β-肌球蛋白重链基因扫描,聚合酶链反应扩增其功能区的外显子片段,双脱氧末段终止法测序。对阳性结果患者进行家系调查,收集临床资料,分析其临床表型特点。结果在1个家系中发现 Val606Met 杂合突变,而正常对照组同一位置未见异常。结论β-肌球蛋白重链基因可能是我国家族性肥厚型心肌病的常见致病基因之一。Val606Met 错义突变位于肌球蛋白重链的肌动蛋白结合位点,该部位系肌球蛋白的重要功能区,其临床表型的异质性,提示多因素参与了肥厚型心肌病的发生和发展。
Objective To investigate the gene mutation sites of familial hypertrophic cardiomyopathy in Chinese Han population and to analyze the relationship between genotypes and clinical phenotypes. Methods Beta-myosin heavy chain gene scanning was performed on probands of eight hypertrophic cardiomyopathy families. Exon fragments of functional regions were amplified by polymerase chain reaction and sequenced by dideoxy end-terminator method. The positive results of pediatric family survey, collect clinical data, analysis of its clinical phenotypic characteristics. Results A heterozygous mutation of Val606Met was found in one pedigree, while no abnormality was found in the same position of the normal control group. Conclusion β-myosin heavy chain gene may be one of the common virulence genes of familial hypertrophic cardiomyopathy in our country. The Val606Met missense mutation is located at the actin binding site of myosin heavy chain, which is an important functional region of myosin with heterogeneity of its clinical phenotype, suggesting that multiple factors are involved in the pathogenesis of hypertrophic cardiomyopathy development of.