摘要
先天性心脏病是一组复杂的心脏解剖学畸形,是新生儿最常见的先天性缺陷类型之一,在全世界范围内,先天性心脏病的发病率及病死率均较高,给社会及家庭带来沉重的负担。先天性心脏病的发生多是由环境因素和遗传因素共同作用的结果,目前已知染色体异常、单基因、多基因遗传缺陷,环境因素等都可以导致先天性心脏病的发生。因此,深入探究先天性心脏病的基因遗传学及环境的影响可对疾病的早期诊断及早期治疗提供新思路,为分子诊断学的发展开辟新道路。
Congenital heart disease is a disease with complex anatomical deformities of heart. It is one of the most common types of congenital defects in neonates with high ratio of morbidity and mortality worldwide,which brings quite heavy burden to the society and family. It' s found that genetic factors and environmental factors play an important role in the occurrence of congenital heart disease. The known genetic factors include gene mutations,chromosomal variation,single gene defects,polygenic genetic defects and epigenetical changes. With further investigation and discussion of genetic and environmental factors,we can explore more mechanisms of congenital heart disease,which may realize early diagnosis and treatment of congenital heart disease,opening a new path for the development of molecular diagnostics.
出处
《医学综述》
2018年第2期248-253,共6页
Medical Recapitulate
