Genetic diagnosis by next generation sequencing in polycystic kidney disease

102例ADPKD患者中179例PKD 1或PKD 2基因存在突变。检出率为77.5%。PKD1基因突变67例，无义突变18例（27%），小片段缺失或插入突变13例（19%），剪接突变5例（7%），错义突变31例（46%），PKD2基因突变12例，无义突变7例（58%），小片段缺失或插入突变3例（25%），与传统的毛细管测序方法相比，使用靶富集DNA系统的下一代测序方法可以在短时间内检测到PKD突变。

In seventeen-nine of one hundred and two ADPKD patients, the mutations of PKD1 or PKD2 gene were found by next generation sequencing method using target-enrichment DNA system. The detection rate was 77.5 %. In sixty-seven mutations of PKD1 gene, eighteen nonsense mutation (27%), thirteen small deletion or insertion (19%), five splicing mutation (7%), thirty-one missense mutation (46%) were found. In twelve mutations of PKD2 gene, seven nonsense mutation (58%), three small deletion or insertion (25%), no splicing mutation and two missense mutation (17%) were found. PKD mutations by next generation sequencing method using target-enrichment DNA system were detected in a short time in comparison with the conventional capillary sequencing method.