comprehensive gene analysis and disease database in congenital anomalies of kidney and urinary tract

先天性肾脏和泌尿道异常（CAKUT）是近年来婴儿肾功能不全的主要因素，其致病突变已被确定。然而，目前还没有对这些基因进行全面的分析，并阐明基因型与表型之间的相关性的报道。在这项研究中，我首先全面分析了这些基因，并检查CAKUT的基因型-表型相关性。另外，本研究还考察了基因的存在和环境参数对CAKUT发病和疾病严重程度的影响。首先广泛收集CAKUT病例，并对TCF 2（HNF-1β）和PAX 2进行PCR和直接测序。如果未发现突变，则对EYA 1、SIX 1、SALL 1以及RET等其他基因进行PCR和直接测序。在分析完成时识别出变异的病例目前共3例;各为PAX 2（2例）、SALL 1（1例）。这两种变化都将引入其他分析方法，包括阵列CGH，用于分析未识别病例中除肾脏外具有临床表现的病例。

Disease-causing mutations in congenital anomalies of kidney and urinary tract(CAKUT), which is the main factor of the renal insufficiency in the infant in late years, have been identified. However, there are no reports which analyze these genes comprehensively and clarify genotype-phenotype correlations. In this study, I first analyzed these genes comprehensively and examine genotype-phenotype correlations in CAKUT. In addition, I examine the existence of a gene and the environmental parameter to modify the CAKUT onset and disease severity at the same time.At first I collected CAKUT cases widely and PCR and direct sequence method were performed in TCF2(HNF-1β) and PAX2. If no mutations were found, PCR and direct sequence method were also performed about EYA1, SIX1, SALL1, other genes including RET. The case that variation was identified while analysis is finished is three cases in total now ; each was PAX2(2 example), SALL1(1 example). Both variations are going to introduce other methods of analysis including array CGH about the case having the clinical manifestations except the kidney among the cases that were not identified.