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Chinese Journal of Clinical Laboratory Management(Electronic Edition) ›› 2017, Vol. 05 ›› Issue (02): 74-77. doi: 10.3877/cma.j.issn.2095-5820.2017.02.003

Special Issue:

• Review • Previous Articles     Next Articles

Research progress of genetic factors in congenital heart diseases

Qiang Zhao1,()   

  1. 1. Department of Clinical Genomics, Kingmed Medical School of Laboratory, Guangzhou Medical University, Guangzhou Kingmed Diagonostics, Guangzhou 510005, China
  • Received:2016-09-20 Online:2017-05-28 Published:2017-05-28
  • Contact: Qiang Zhao
  • About author:
    Corresponding author: Zhao Qiang, Email:

Abstract:

Congenital heart diseases (CHD) are the most common birth defects, which severely effect humans healthy. The genetic factors in CHD have been increasingly became to be the focus of attention worldly. It is quite important to understand the critical role of genetic factors in the onset, development, and prognosis of CHD. Various genetic factors such as chromosomal numerical and structural aberrations, point mutations, gene splicing sites mutation, copy number variations, RNA mutations and epigenetics modifications, played important roles in the development of CHD. This article only focuses on the effeteness of chromosomal abnormalities, monogeneses, copy number variations, and de novo mutations with CHD.

Key words: Congenital heart diseases, Chromosomal abnormalities, Copy number variation, Whole exons sequencing, De novo mutation

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