• 医学文献
  • 知识库
  • 评价分析
  • 全部
  • 中外期刊
  • 学位
  • 会议
  • 专利
  • 成果
  • 标准
  • 法规
  • 临床诊疗知识库
  • 中医药知识库
  • 机构
  • 作者
热搜词:
换一批
论文 期刊
高级检索

检索历史 清除

Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy

摘要:

Background Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain (β-MHC) are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype.Methods The exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed.Results The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13 619 of the MYH7 gene, located at the essential light chain interacting region in S1,the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated.Conclusion The Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.

更多
作者单位: Department of Cardiology, First Affiliated Hospital of Soochow University, Suzhou 215006 China [1] Department of Cardiology, People's Hospital of Shanxi Province,Taiyuan 030012, China [2] Jiangsu Institute of Hematology, Soochow University, Suzhou 215006, China [3]
期刊: 《中华医学杂志(英文版)》2006年119卷21期 1785-1789页 SCISCIEMEDLINEISTICCSCDCABP
分类号: R3
栏目名称: ORIGINAL ARTICLES
发布时间: 2006-12-25
  • 浏览:170
  • 下载:8

加载中!

相似文献

  • 中文期刊
  • 外文期刊
  • 学位论文
  • 会议论文

加载中!

加载中!

加载中!

加载中!

扩展文献

特别提示:本网站仅提供医学学术资源服务,不销售任何药品和器械,有关药品和器械的销售信息,请查阅其他网站。

  • 客服热线:4000-115-888 转3 (周一至周五:8:00至17:00)

  • |
  • 客服邮箱:yiyao@wanfangdata.com.cn

  • 违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

北京万方数据股份有限公司

万方数据电子出版社

京ICP证010071号

京公网安备11010802020237号

京ICP备08100800号-1

违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

充值 订阅 收藏 移动端 使用
帮助