唐氏综合征母体血清补体相关蛋白的初步研究

摘要

目的:初步探讨补体系统与唐氏综合征(DS)的相关性.方法:联合采用蛋白组学技术与生物信息分析,对6例孕DS母体和6例正常母体血清中补体相关的差异蛋白进行检测与分析.结果:采用蛋白组学技术共在DS母体血清中鉴定5种补体成分:CFB、C4A、CFH、CFHR1和CFHR;5种补体差异蛋白中,4种在母体血清中显著增高(CFB、C4A、CFH、CFHR1),仅CFHR2含量降低;生物信息学分析发现,与补体与血凝通路显著富集,这些差异蛋白质与免疫应答补体替代途径显著相关(P=9.7E-10).结论:补体相关分子的异常表达可能参与了疾病的发生与发展,其中CFB可能起到关键的作用.这些补体成分是否能作为产前筛查的实验室指标需要大量的临床验证.%Objective To explore the relationship between serun complements in women and Down syndrome (DS) in newborns.Methods.The expressions of serum complement proteins in 6 women who carrying DS fetus and 6 women who carrying normal fetus were measured by proteomic and bioinformatics methods.Results 5 kinds of serum complement proteins (CFB,C4A,CFH,CFHR1,and CFHR) were identified successfully in women with DS fetus;among which CFB,C4A,CFH,CFHR1 were significantly increased,and CFHR2 was significantly decreased.Bioinformatics analysis found that complement and coagulation cascades were the most significantly enriched.Immune response alternative complement pathway was the most significant gene go pathway related to DS.Conclusions There was relationship between complements and DS,and CFB may play an important role in it.