利用高通量基因芯片建立与分析单侧隐睾症睾丸基因表达谱

Construction and analysis of gene expression profiles in the testes of patients with unilateral cryptorchidism using cDNA gene chips

目的:利用高通量基因芯片技术分析单侧隐睾症睾丸组织中差异表达的基因。方法:抽提6例单侧隐睾症患者和3例正常生育男性患者睾丸组织中mRNA,反转录后,探针标记cDNA。使用高通量cDNA微阵列人类全基因表达谱基因芯片(45 034个基因)检测睾丸组织基因表达谱。差异表达基因在MAS系统中进行Path-way和GO分析。结果:Ratio>3.0或<0.33的数据项为差异表达的基因,单侧隐睾症患者睾丸生精组织中共检测到346个差异表达基因。其中上调基因60个,主要分布在1、15、5和19号染色体,集中在细胞周期、纤毛或鞭毛运动、DNA复制等聚类。下调基因286个,主要分布在1、19、16和11号染色体等,集中在精子发生和抗凋亡相关的基因聚类中。结论:单侧隐睾症涉及多功能基因表达的变化;单侧隐睾症睾丸基因表达谱的建立可为分析单侧隐睾症的遗传因素和探讨其生精功能异常的病因提供新的理论基础。

Objective： To analyze the differentially expressed genes in the testicular tissues of men with unilateral cryptorchidism using cDNA gene chips.Methods： Probes were prepared with the mRNA extracted from the testes of 6 patients with unilateral cryptorchidism and 3 normal fertile men.Then the differential gene expression profiles of the two groups were detected with cDNA gene chips containing 45 034 genes.The differentially expressed genes were analyzed with Pathway and GO in the MAS system.Results： Based on the ratio of 3.0 or 0.33,346 differentially expressed genes were detected in the testis tissues of the patients with unilateral cryptorchidism,among which 60 were up-regulated and 286 down-regulated.The up-regulated genes were distributed mainly on chromosomes 1,15,5 and 19,associated with cell cycles,sperm motility,flagellar movement,DNA replication,and chromatin modification,while the down-regulated genes,mainly on chromosomes 1,19,16 and 11,related with spermatogenesis and anti-apoptosis.Conclusion： Unilateral cryptorchidism involves the variation of the expressions of multifunctional genes.The establishment of gene expression profiles of unilateral cryptorchidism in human testes may provide a new theoretical basis for analyzing the genetic factors of unilateral cryptorchidism and investigating the etiology of spermatogenic failure.