Department of Nephrology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Int J Urol. 2011 Mar;18(3):240-2. doi: 10.1111/j.1442-2042.2010.02709.x.
Autosomal dominant polycystic kidney disease (ADPKD) is a common and severe renal disease. Mutations of PKD1 and PKD2 genes are responsible for approximately 85% and 15% of ADPKD cases, respectively. In the present study, PKD1 and PKD2 genes were analyzed in a large Chinese family with ADPKD using denaturing high-performance liquid chromatography and DNA sequencing. A novel mutation, c.3623-3624insGTGT in exon 15 of the PKD1 gene, was identified in all nine affected family members, but not in any unaffected consanguineous relatives or 100 unrelated controls. These findings suggest that the unique 4 bp insertion, c.3623-3624insGTGT, in the PKD1 gene might be the pathogenic mutation responsible for the disease in this family.
常染色体显性多囊肾病（ADPKD）是一种常见且严重的肾脏疾病。PKD1 和 PKD2 基因突变分别负责约 85%和 15%的 ADPKD 病例。在本研究中，使用变性高效液相色谱和 DNA 测序分析了一个具有 ADPKD 的大型中国家族的 PKD1 和 PKD2 基因。在所有 9 名受影响的家族成员中发现了 PKD1 基因外显子 15 中的一个新突变 c.3623-3624insGTGT，但在任何未受影响的近亲或 100 名无关对照中均未发现。这些发现表明，PKD1 基因中的独特 4 个碱基插入 c.3623-3624insGTGT 可能是该家族疾病的致病突变。
