全外显子测序技术在先天性心脏病中的应用

Application of whole-exon sequencing in congenital heart disease

先天性心脏病(CHD)是致死率较高的常见出生缺陷,其发病机制是遗传性与非遗传性因素共同作用的结果。基因突变等遗传性因素通过改变细胞的增殖、凋亡等途径,导致心脏发育障碍。对潜在遗传因素进行分子诊断是该领域的研究热点。全外显子测序(WES)能够识别遗传性疾病的可能致病基因,有助于阐明CHD发展的遗传机制。因其序列覆盖率高,测序周期短、成本低,应用广泛。本文对WES在非综合征型和综合征型CHD中的应用进行综述,探讨其在先天性心脏发育缺陷遗传学研究中的应用价值。

Congenital heart disease(CHD)is a common birth defect with high lethality,and its pathogenesis involves both genetic and non-genetic factors.Genetic factors such as gene mutations lead to heart development disorders by changing cell proliferation,apoptosis,and other processes.Molecular diagnosis of the underlying genetic factors is a research hotspot in this field.Whole-exome sequencing can identify possible pathogenic genes of genetic diseases,and help to elucidate the genetic mechanism of CHD development.Because of its high sequence coverage,short sequencing cycle,and low cost,whole-exome sequencing has been widely used in detecting genetic disorders.This paper reviews the use of whole-exome sequencing in non-syndromic and syndromic CHD to investigate its utility in exploring the genetics of congenital cardiac developmental defects.