先天性巨结肠转录组学研究进展

Advances in transcriptomics of Hirschsprung's disease

先天性巨结肠(Hirschsprung disease, HSCR)是小儿外科最常见的先天性消化道畸形之一,其在新生儿中的发病率为1∶5 000,男女发病比为4∶1,足月儿多见。HSCR是由遗传、环境等多因素导致的疾病,一般需要外科干预治疗,其基本病理改变是不同长度的远端肠管神经节缺如。现有研究主要集中在HSCR患者基因水平的改变,尚不足以解释HSCR发病中的性别差异、外显率差异和表型差异等,故转录作为基因表达调控的关键,应成为研究的新方向。转录组学即是从RNA水平研究基因表达的学科,本文主要论述HSCR在转录组学上的研究进展。

Hirschsprung's disease is one of the most common congenital digestive system malformations in Pediatric Surgery. The incidence of it is 1∶5 000. The incidence ratio of male to female is 4∶1. It’s more common in term infants, caused by multiple factors, such as genetics, environment and so on. Surgery interventions are needed. The basic pathological changes of it is aganglionic hindgut in variable length. Researches now have always been focused on changes on gene level, which cannot explain the differences of incidence of different genders, and the difference of penetrance and phenotype and so on. So, as the key process of regulation of genetic expression, transcription should be the next key point. Transcriptomics is a new discipline that studies the expression of genes in RNA levels. This article is written for discussing the advances in transcriptomics of Hirschsprung's disease.