DOI:
作者:
作者单位:

作者简介:

通讯作者:

中图分类号:

基金项目:


Missense mutations in CSX/NKX2.5 are associated with atrial septal defects
Author:
Affiliation:

Fund Project:

  • 摘要
  • |
  • 图/表
  • |
  • 访问统计
  • |
  • 参考文献
  • |
  • 相似文献
  • |
  • 引证文献
  • |
  • 资源附件
  • |
  • 文章评论
    摘要:

    Abstract:

    Objective:To study the gene mutations of homeobox transcription factor(CSX/NKX2.5) associated with a Chinese family with secundum atrial septal defect(ASD). Methods:Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, and single strand conformation polymorphism analysis(SSCP) was used to check 126 normal control people for detecting the mutations of CSX/NKX2.5 gene. Results: Three mutations,G270A(Glu32Lys),G378A(Glu68Lys)andG390A(Glu72Lys)were identified in CSX/NKX2.5 gene of ASD patients. However, the other members in the family with ASD and the control did not have such gene mutations. Conclusion:These mutations of CSX/NKX2.5 gene, which were identified in a Chinese family, may be one of the secundum ASD etiologic causes.

    参考文献
    相似文献
    引证文献
引用本文

Li Tian, Jianfang Zhu, Junguo Yang, Qihui Zhu, Rong Du, Jing Li, Wei Li.[J].南京医科大学学报(自然科学版),2007,(4):218-221

复制
分享
文章指标
  • 点击次数:
  • 下载次数:
  • HTML阅读次数:
  • 引用次数:
历史
  • 收稿日期:2007-02-26
  • 最后修改日期:
  • 录用日期:
  • 在线发布日期:
  • 出版日期:
通知关闭
郑重声明