【摘要】 目的:分离和鉴定唐氏综合征胎儿与正常胎儿脑组织差异表达的基因片断,为进一步认识DS脑病变发生的分子机制奠定基础。方法:利用抑制性消减杂交的方法对DS胎儿及正常胎儿脑组织样品进行正向消减杂交,利用斑点杂交对所获的基因片断进行进一步的验证。结果:从构建的消减杂交库中随机挑取80个阳性克隆,经点杂交鉴定获得13个代表了在DS胎儿脑组织特异高表达基因片断,其中包括转录因子、神经退行性变相关基因、能量代谢相关基因及神经发育相关基因。结论:所筛选出来的基因中部分与其他神经系统的疾病密切相关,或者具有潜在的致凋亡功能,可能参与了DS的脑病变的发生。更多还原

【Abstract】 Objective:To isolate differential expression genes in Down syndrome fetus’s brain to reveal the molecule mechanisms of Down syndrome caused by the extra human chromosome 21(HSA21).Methods:Suppression Subtractive Hybridization(SSH) was performed to profile differentially express genes between normal abortive fetus (as the driver) and Down’s syndrome fetus(as the tester),then screening and analyzing the subtractive libraries.Results:We obtained 27 genes which represented the comparatively high expression in fetus with Down’s syndrome, screened by dot blot,13 genes were validated to be expressed differentially between DS and normal individual,including Atxn-2、MEF2C et al transcription factors and GPM6A involving in cell apoptosis and neurite formation process respectively.Conclusion:The validated genes obtained ty us play impotant roles in others neurodegenerative diseases as well,some of them are proapoptic factors and may also play important roles in Down’s syndrome encephalopathy mechanisms.更多还原