人类肛门直肠畸形基因表达谱的研究

目的：研究肛门直肠畸形患儿直肠末端的基因表达谱，初步筛查肛门直肠畸形的差异表达基因。方法：应用基因表达谱芯片技术对3例先天性肛门直肠畸形患儿的直肠末端组织和3例正常直肠末端组织的基因表达进行检测。结果：在186个发育相关基因中，共发现差异表达基因54个，表达上调的52个，表达下调的2个。结论：先天性肛门直肠畸形的发生涉及多基因改变。基因表达谱芯片技术可同时定量研究大量基因表达水平，是一种快捷高效的方法。

Profile of Gene Expression in Human Anorectal Malformation

Objective: Our purpose was to study the profile of gene expression in distal part of rectum in infants with anorectal malformation.Methods:The cDNA microarray was used to detect the gene expression of 3 infants with anorectal malformation and normal rectal tissues of 3 infants without the malformation.Results:Among 186 developmental genes, there were 54 differences, of which 52 were up regulated and 2 down regulated in infants with anorectal malformation. Conclusion:Anorectal malformation has a multifactorial and polygenic background. The cDNA microarray techniques are rapid and effective in screening differential gene expression.