摘要
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 screen the disease-causing gene mutation in Chinese patients with familiar hypertrophic cardiomyopathy （HCM） and to analyse the correlation between the genotype and phenotype. Methods Eight Chinese pedigrees with HCM and 80 age-matched normal control subjects were studied. The exons in the functional regions of the beta myosin heavy chain gene （β-MHC） were amplified with PCR and the products were sequenced. The relation between the genotype and phenotype was analyzed. Result Val606Met mutation was identified in exon 16 in one family and Val606Met mutation was identified in 4 out of 8 family members in this pedigree and 3 out of 4 Val606Met carriers suffered from HCM. No similar mutation was identified in controls. Conclusion The Val606Met mutation located at the actinbinding region of the cardiac β-MHC gene is involved in the pathogenesis of HCM in this Chinese pedigree.
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2007年第11期992-995,共4页
Chinese Journal of Cardiology
基金
江苏省"135"工程重点学科专项基金资助项目
关键词
心肌病
肥大性
家族性
肌球蛋白重链
突变
基因型
表型
Cardiomyopathy,hypertrophic,familial
Myosin heavy chain
Mutation
Genotype
Phenotype
