醛糖还原酶 (AR)是多元醇通路的限速酶 ,此酶的激活被认为与糖尿病慢性并发症有关。人类AR基因是定位于染色体 7q3 5,其调控区具有一个TATA盒、一个CCAAT盒、三个Sp1结合元件、一个GC富含序列和一个GA富含区。该基因转录起始点上游还存在一个高度多态性的微卫星DNA标记———(AC)n串联重复序列和几个与高渗表达增加直接相关的渗透应答元件。对AR基因及其调控区的研究有助于阐明此酶激活及糖尿病慢性并发症发生的机理。 Aldose reductase (AR) is the rate-limiting enzyme in the polyol pathway and activation of this enzyme is thought to be associated with chronic complications of diabetes. The human AR gene is located on chromosome 7q3 5 and has a TATA box, a CCAAT box, three Sp1 binding members, a GC-rich sequence, and a GA-rich region in its regulatory region. There is also a highly polymorphic microsatellite DNA marker --- (AC) n tandem repeat sequence upstream of the transcriptional start point of the gene and several osmotic response elements that are directly related to the increase of hypertonic expression. The study of AR gene and its regulatory regions help clarify the mechanism of this enzyme activation and the occurrence of chronic complications of diabetes mellitus.