先天性巨结肠血清蛋白质标记物检测

Serum protein markers for Hirschsprung＇ s disease

目的 检测先天性巨结肠患儿血清蛋白质，筛选特异的蛋白质标记物，构建用于先天性巨结肠早期筛选及诊断的血清蛋白质指纹图谱模型。方法 应用表面增强激光解吸离子化飞行时间质谱（surface enbanced laser desorption／inionation-time of flight—mass spectra，SELDI-TOF-MS）技术检测62例血清标本（先天性巨结肠42例，正常对照20例）的蛋白质质谱，并结合生物信息学方法（支持向量机）分析数据。结果 筛选出3个m／z位于3221．7、5639．2、6884．2的蛋白质标记物，构建先天性巨结肠早期筛选及诊断模型。经留一法交叉验证，区分先天性巨结肠和正常小儿的血清蛋白质指纹图谱模型的特异性为100％，敏感性为100％。结论 SELDI-TOF-MS结合SVM建立先天性巨结肠血清蛋白质指纹图谱模型是早期筛选及诊断先天性巨结肠的一种特异性强、敏感性高的新方法，值得进一步研究和应用。

Objective To identify a specific fingerprint chromatogram model of serum proteins for early screening and diagnosis of Hirschsprungs disease （HD）. Methods The protein mass spectrograms was detected by the surface-enhanced laser desorption/ionization time of flight mass spectrometry SELDI-TOF MS technology combined with bio-informatics methods （support vector machine） in 62 serum samples （42 from HD patients, and 20 from normal controls）. Results Three protein markers whose m/z positioned at 3221.7, 5639. 2, and 6884. 2 were detected from the fingerprint chromatogram model of serum protein for early screening and diagnosis of Hirschsprung disease. The markers had 100% sensitivity and specificity. Conclusions The fingerprint chromatogram model of serum protein using SELDITOF-MS combining SVM is a new method of early screening and diagnosis of HD worthy of further research and application.