目的研究中国人多囊肾病基因1(polycystic kidney disease1gene,PKD1)突变的特点,检测基因突变位点。方法25例多囊肾患者,正常对照16名,扩增PKD1基因的第44、45外显子的基因片段,变性梯度凝胶电泳突变检测系统进行初筛,然后测序。结果发现1个移码突变(12431delCT)、1个无义突变(C12217T)、1个多态性(A50747C),突变检测率为8%(2/25)。结论检测到2个新的可能的致病突变1个移码突变(12431delCT)、1个无义突变(C12217T)。 Objective To investigate the characteristics of Chinese polycystic kidney disease gene (PKD1) mutation and to detect the gene mutation sites. Methods Twenty-five patients with polycystic kidney disease and 16 normal controls were enrolled in this study. Gene fragments of exon 44 and exon 45 of PKD1 gene were amplified and denatured gradient gel electrophoresis (PCR) mutation detection system was used for primary screening and sequencing. One frameshift mutation (12431delCT), one nonsense mutation (C12217T) and one polymorphism (A50747C) were found. The mutation detection rate was 8% (2/25). Conclusions Two new possible mutations of the disease were detected, one frameshift mutation (12431delCT) and one nonsense mutation (C12217T).