Gene screening for congenital anorectal malformations

Abstract

Objective To screen the candidate genes of congenital anorectal malformations (ARMs) by cDNA chip screening. Methods The gene expressions of the terminal rectum tissues of two high ARM infants and one infant who died of non-gastroenteric disease were analyzed by Affy-metrix Human Genome U133 Plus 2.0 Array. The level of 7 candidate genes was detected and proved by RT-PCR. Results The expression of 776 genes was found to be more than 2 times greater than that of the control, including 399 down-regulated genes and 377 up-regulated genes in patients with high ARMs. The expression of 259 genes was found to be 4 times greater than that of the control, in-cluding 150 down-regulated genes and 109 up-regulated genes. RT-PCR showed the expression of RHOB and HOXA5 in rectal terminal of patients with high ARMs was higher than that in the control. However, the expressions of SOX11, MMP7, SALL1, NKX3-1 and EPHB2 in the terminal rectum of patients with high ARMs were lower than those in control Conclusions cDNA gene chip microarray can be used to screen candidate genes which may contribute in the pathogenesis of congenital anorectal malformations. Anorectal malformations have a multifactorial and polygenic background. Gene screen-ing on congenital ARMs can provide solid basis for the etiologic and pathophysiologic study on congen-ital ARMs. Key words: Anus, abnormalities; Rectum, abnormalities; cDNA microarrays; Gene expression profiling