血清补体B因子与唐氏综合征相关性的初步研究

Preliminary research for the relevance on the concentration of complement factor B and Down's syndrome

目的初步探讨血清补体B因子(CFB)与唐氏综合征(DS)的相关性。方法采用双向电泳-质谱的蛋白质组学研究策略,分析6例孕DS胎儿母体血清血与正常母体血清的蛋白表达谱的差别,筛选鉴定差异表达蛋白。用酶联免疫吸附法(ELISA)检测11例孕DS胎儿母体血清与11例DS新生儿血清CFB的含量。结果 6例孕DS胎儿母体血清的全蛋白差异表达凝胶图谱上鉴定出29种差异蛋白,其中CFB上调了较为显著,上调了5.73倍,差异具有显著性(P<0.05);与正常母体血清相比,孕DS胎儿母体血清CFB含量明显增高(466.8 ng/mL vs 293.5 ng/mL,P<0.05),而DS新生儿血清CFB水平显著降低(174.3 ng/mL vs 311.8 ng/mL,P<0.001)。结论 CFB表达可能与DS存在密切的联系。唐氏综合征患者异常表达的CFB可能是诱发其智力低下的因素之一。

【Objective】To explore the relationship between the concentration of complement factor B（CFB） and Down＇s syndrome.【Method】By using two-dimensional gel electrophoresis followed by MALDI-TOF-MS and database searching,the differential protein expression profile of maternal serum with between Down＇s syndrome group and normal pregnancy group was analyzed.The concentrations of CFB were measured with enzyme linked immunosorbent assay（ELISA） in 11 cases of maternal serum with Down＇s syndrome and 11 cases of neonatal serum with Down＇s syndrome.【Results】29 spots on two-dimensional gels with altered expression were found.CFB was notably up-regulated by 5.73（P0.05）.Compared with normal pregnancy group,the concentration of CFB of maternal serum with Down＇s syndrome group was significantly increased（466.8 ng/mL vs.293.5 ng/mL,P0.05）.On the other hand,the concentration of CFB of neonates with Down＇s syndrome group decreased conspicuously（174.3 ng/ mL vs.311.8 ng/mL,P0.001）.【Conclusions】The expression level of CFB may be related to Down＇s syndrome,which implied that abnormal expression of CFB in Down＇s syndrome may be one of the factors inducing mental retardation.