脑性瘫痪的遗传学研究进展

Advances in genetic research of cerebral palsy

摘要:

脑性瘫痪（简称脑瘫）是由发育中的胎儿或婴幼儿脑部非进行性损伤所致一组症候群，是导致儿童时期残疾的主要疾病，脑瘫病因学研究一直是临床科学家关注的焦点。越来越多的证据表明，遗传因素与脑瘫的发病密切相关。近年来，随着染色体微阵列分析、全基因组扫描和全外显子测序等分子生物技术的发展和应用，脑瘫的遗传学研究取得了许多新进展，发现了大量与脑瘫发病相关的染色体异常、基因组拷贝数变异、易感基因及单基因突变等，为脑瘫发病机制的研究提供了新的机遇。现就近年来脑瘫的遗传学病因研究进展作一综述。

Abstract:

Cerebral palsy is a group of syndromes caused by non-progressive brain injury in the fetus or infant and can cause disabilities in childhood. Etiology of cerebral palsy has always been a hot topic for clinical scientists. More and more studies have shown that genetic factors are closely associated with the development of cerebral palsy. With the development and application of various molecular and biological techniques such as chromosome microarray analysis, genome-wide association study, and whole exome sequencing, new achievements have been made in the genetic research of cerebral palsy. Chromosome abnormalities, copy number variations, susceptibility genes, and single gene mutation associated with the development of cerebral palsy have been identified, which provides new opportunities for the research on the pathogenesis of cerebral palsy. This article reviews the advances in the genetic research on cerebral palsy in recent years.