摘要
为探索Ａｌｐｏｒｔ综合征诊断的简易方法，用Ⅳ型胶原不同α链的单克隆抗体，对正常人、Ｘ连锁型Ａｌｐｏｒｔ综合征（ＡＳ）男性患儿及部分患儿父、母亲的皮肤基底膜（ＥＢＭ）、部分患儿的肾小球基底膜（ＧＢＭ）进行了间接免疫荧光学检查，结果显示：抗αｌ、α５（Ⅳ）ＮＣ１单克隆抗体在正常人和ＡＳ患儿父亲的ＥＢＭ均为连续线样沉积，但抗α５（Ⅳ）ＮＣ１单克隆抗体在ＡＳ患儿ＥＢＭ为阴性反应，在患儿母亲ＥＢＭ为间断线样沉积；抗α１、α３、α４和α５（Ⅳ）ＮＣ１单克隆抗体在正常人ＧＢＭ为线样沉积，抗α３～α５（Ⅳ）ＮＣ１单克隆抗体在ＡＳ患儿ＧＢＭ均呈阴性反应。证明抗α５（Ⅳ）ＮＣ１单克隆抗体在皮肤组织的免疫荧光检查可用于Ｘ连锁型ＡＳ患者的诊断及基因携带者的筛查。
The objective of this study was to explore a simple method for the diagnosis of Alport syndrome (AS). By using immunofluorescence (IF) method, the authors examined α5(Ⅳ) NC1 domain in epidermal basement membrane (EBM) of normal controls, X linked AS patients and their parents, in glomerular basement membrane (GBM) of normal controls and AS patients. The results showed that there were negative reactions with monoclonal antibody anti α5 (Ⅳ)NC1 domain in EBM and anti α3～5(Ⅳ) NC1 domain in GBM of AS patients. Whereas, positive reactions with monoclonal antibody anti α1 and α5(Ⅳ) NC1 domain in EBM of normal controls and patients′ father as well as anti α1、α3、α4 and α5(Ⅳ) NC1 domain in GBM of normal controls were observed. In patients′ mother α5(Ⅳ) chain distributed segmentally in EBM. In conclusion, the stainning of α5 (Ⅳ) NC1 domain by IF can be used to diagnose patients and screen defect gene carriers of X linked AS.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
1997年第4期177-179,共3页
Chinese Journal of Pediatrics
基金
国家教委留学回国人员科研资助
