摘要
先天性心脏病(congenital heart disease,CHD)是最常见的出生缺陷,严重危害群体健康。遗传因素与CHD发病关系,历来受到国内外学者的瞩目。理解遗传因素在CHD发生、发展及转归过程中的作用意义重大。影响CHD的遗传因素包括染色体数目及结构异常、各种各样的点突变、基因拷贝数变异(copy number variation,CNV)、DNA拼接位点突变、RNA突变及表观遗传学修饰等。本文仅对染色体畸变、单基因突变、拷贝数变异及新生突变与CHD的关系简要综述如下。
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.
出处
《中华临床实验室管理电子杂志》
2017年第2期74-77,共4页
Chinese Journal of Clinical Laboratory Management(Electronic Edition）
关键词
先天性心脏病
染色体
拷贝数变异
外显子测序
新生突变
Congenital heart diseases
Chromosomal abnormalities
Copy number variation
Whole exons sequencing
De novo mutation
