汉族人早年白发差异表达基因的初步筛选及功能探索  

The Preliminary Screen for Premature Greying of Hair Related Genes Expression in Chinese Han Population

作　　者：张雅君[1] 齐显龙[1] 赵涛[1] 党二乐[1] 宋璞[1] 晋亮[1] 刘玲[1] 

机构地区：[1]第四军医大学西京医院皮肤科,陕西西安710032

出　　处：《现代生物医学进展》2013年第10期1857-1860,1839,共5页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目(81000701);2010年中华医学会-欧莱雅中国人健康皮肤/毛发研究项目资助

摘　　要：目的:通过筛选早年白发患者和正常黑发者毛发中差异表达的基因,为研究毛发黑素合成及转运的生理病理机制提供线索。方法:留取门诊确诊的早年白发患者毛发,应用退火控制引物(ACP)初步筛选差异表达的候选基因,实时定量PCR法进一步确认候选基因的表达水平;设计合成筛选出的Slc7a11和小眼相关转录因子(Mitf)的siRNA后,转染入正常人黑素细胞系PIG1,在H2O2诱导下,通过Annexin-V FITC检测其凋亡。结果:ACP筛选及RT-PCR验证结果提示,Slc7a11和Mitf基因表达水平在早年白发患者和正常人间有较大差异(P<0.01);降低这两种基因的表达后,PIG1的凋亡率较正常组升高。结论:Slc7a11和Mitf基因不仅在正常毛发色素合成中发挥着作用,同时也参与着氧化应激诱导下黑素细胞凋亡的过程,可能在一些色素相关性疾病的发生发展中起着关键的作用。Objective： To investigate the various genes between premature greying of hair patients and healthy subjects by screening,which implied a way for understanding the pathogenesis of melanin genesis and transport.Methods： Hair of premature greying patients were collected,and annealing control primers（ACP） were preliminarily used to screen for candidate genes,then the expression level of these genes were confirmed through Real-time PCR.siRNA were used to transfect into PIG1 cell lines,then the apoptosis rates were analyzed by AnnexinV-FITC,under H2O2-induced oxidative stress.Results： There was significance in both Slc7a11 and Mitf genes expression,between patients and healthy ones（P0.01）.When these two genes were down regulated,the apoptosis rate of PIG1 increased upon oxidative stress.Conclusion： Slc7a11 and Mitf are major genetic regulators of melanin pigment in hair and provide more evidence for the further investigation of pigmentation disorder,including the process of oxidative stress-induced melanocytes apoptosis.

关 键 词：早年白发 ACP Mitf基因 Slc7a11基因 氧化应激 

分 类 号：R758.71[医药卫生—皮肤病学与性病学] Q78[医药卫生—临床医学]