Development and clinical application of the immunochromatography for a citrin protein

柠檬素缺乏导致新生儿肝内胆汁淤积症，由柠檬素缺乏引起，以及成人发病的II型瓜氨酸血症。柑橘素缺乏症的诊断主要是通过基因分析进行的，尽管在某些情况下没有检测到已知的突变。Western blot分析也用于柑橘素缺乏症。Western blot分析的使用很少，因为它很耗时。免疫层析法是近年来发展起来的一种简便、快速的检测方法。本研究的目的是用免疫层析法作为替代诊断方法来检测口腔黏膜中的柠檬素蛋白。本课题未完成柑橘素蛋白免疫层析的开发。

Citrin deficiency causes neonatal intrahepatic cholestasis caused by citrin deficiency, and adult-onset type II citrullinemia. Diagonosis of citrin deficiency is mainly performed by genetic analysis, although the known mutations are not detected in some cases. Western blot analysis is also performed for citrin deficiency. The use of Western blot analysis is very few because it is time-consuming. Immunochromatography is recently developed detection method, which is easy and quick. The aim of this project is to examine citrin protein in oral mucosae by using immunochromatography as an alternative diagnostic method. In this project, the development of immunochromatography for a citrin protein was not completed.