唐氏综合征胎儿、新生儿及其孕母血清铜蓝蛋白的表达特点

目的 探讨胎儿、新生儿及其孕母血清铜蓝蛋白的表达与唐氏综合征(Down syndrome,DS)的关系. 方法 采用双向凝胶电泳+质谱的蛋白组学技术检测6例DS胎儿孕母和6例正常胎儿孕母血清中差异蛋白的表达,采用Western印迹技术验证蛋白组学结果.采用酶联免疫吸附试验检测11例DS胎儿孕母、10例正常胎儿孕母、11例DS新生儿及10例正常新生儿血清铜蓝蛋白的含量.组间差异比较采用两独立样本t检验. 结果 在DS胎儿孕母血清中鉴定出29种差异蛋白,其中铜蓝蛋白上升最为显著,与正常胎儿孕母相比,蛋白表达密度比值达5.43,差异有统计学意义(t=2.7102,P＜0.05).Western印迹结果显示,DS胎儿孕母血清中铜蓝蛋白表达水平(0.95±0.24)明显高于正常胎儿孕母(0.37±0.14)(t=2.9521,P＜0.05),而DS新生儿血清铜蓝蛋白表达水平(0.74±0.03)显著低于正常对照新生儿(0.89±0.06)(t=-2.9515,P＜0.05).酶联免疫吸附试验显示,DS胎儿孕母血清铜蓝蛋白含量为(346.5±111.8) ng/ml,明显高于正常胎儿孕母血清的(248.6±78.3)ng/ml,差异有统计学意义(t=2.301,P＜0.05).然而,DS新生儿血清铜蓝蛋白水平(166.1±55.0) ng/ml]却低于正常对照新生儿(244.0±36.0)ng/ml],差异有统计学意义(t=-3.873,P＜0.01). 结论 孕母及新生儿血清铜蓝蛋白表达水平异常可能与DS存在密切联系.

Expression of ceruloplasmin in Down syndrome babies and their mothers

Objective To investigate the relationship between ceruloplasmin expression and Down syndrome (DS). Methods Differential protein expression in serum of six mothers with DS fetuses and six mothers with healthy fetuses was detected by two-dimensional electrophoresis and matrix assisted laser desorption ionization-mass spectrum,the results were confirmed by Western blot.The levels of serum ceruloplasmin in 11 mothers with DS fetuses,10 mothers with healthy fetuses,11 DS newborns and 10 healthy babies were detected by enzyme-linked immunosorbent assay.The difference between the two groups was compared by two-independent samples t test. Results Twenty-nine differential proteins were found in the serum of the mothers with DS fetuses; among which ceruloplasmin increased significantly compared with that in mothers with healthy fetuese with density ratio of 5.43 (t=2.7102,P＜0.05).Western blot results showed that the expression of ceruloplasmin in maternal serum with DS fetuses (0.95 ± 0.24) was higher than that of normal mothers (0.37±0.14) (t=2.9521,P＜0.05) ; while the expression of ceruloplasmin in DS babies' serum (0.74±0.03) was lower than that of normal newborns (0.89±0.06)(t=-2.9515,P＜0.05).The expression of ceruloplasmin in serum of mothers with DS fetuses (346.5± 111.8) ng/ml] was higher than that of normal mothers (248.6478.3) ng/ml] (t=2.301,P＜0.05) ; while the expression of ceruloplasmin in DS babies' serum (166.1 ±55.0) ng/ml] was lower than that of normal newborns (244.0±36.0) ng/ml] (t=-3.873,P＜0.01). Conclusions Abnormal maternal and neonatal serum ceruloplasmin level might relate to DS.