Nakano Takako, Niimura Fumio, Hohenfellner Katharina, Miyakita Eiji, Ichikawa Iekuni
Department of Pediatrics, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
Tokai J Exp Clin Med. 2003 Oct;28(3):121-6.
Recent studies have demonstrated in mice that bone morphogenetic protein 4 (BMP4) and forkhead transcription factor 1 (FOXC1) are involved in the organogenesis of the kidney and urinary tract and that derangement of either gene, BMP4 or FOXC1, leads to development of congenital anomalies of the kidney and urinary tract (CAKUT). In order to determine whether human CAKUT is associated with abnormalities in BMP4 or FOXC1, we established a PCR-based methodology for the DNA sequence analysis of BMP4 and FOXC1 in humans. Our initial screening identified an insertion mutation in FOXC1 with a triplet GGC in three of the seven patients with CAKUT. In the present study, no mutation was detected in the coding sequence of BMP4.
最近的研究在小鼠中证实，骨形态发生蛋白4（BMP4）和叉头转录因子1（FOXC1）参与肾脏和尿路的器官发生，并且BMP4或FOXC1这两个基因中任何一个的紊乱都会导致先天性肾脏和尿路畸形（CAKUT）的发生。为了确定人类CAKUT是否与BMP4或FOXC1的异常有关，我们建立了一种基于PCR的方法用于分析人类BMP4和FOXC1的DNA序列。我们的初步筛查在7例CAKUT患者中的3例中发现了FOXC1的一个插入突变，该突变带有三联体GGC。在本研究中，未在BMP4的编码序列中检测到突变。
