Genetic diagnosis by next generation sequencing in polycystic kidney disease

多囊肾病的二代测序基因诊断

• 批准号: 24659420
• 负责人: MOCHIZUKI Toshio
• 金额: $ 2.41万
• 依托单位: Tokyo Women's Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2012
• 资助国家: 日本
• 起止时间: 2012-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-24659420/
• 关键词: 多発性嚢胞腎; ADPKD; PKD1; PKD2; 遺伝子変異; 次世代シークエンサー

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.

在102例ADPKD患者中，有179例用靶向富集型DNA系统进行下一代测序，发现PKD1或PKD2基因突变。发现率为77.5%。在67个突变中，无义突变18个(27%)，小缺失或插入13个(19%)，剪接突变5个(7%)，错义突变31个(46%)。在12个PKD2基因突变中，7个为无义突变(58%)，3个为小缺失或插入(25%)，3个为剪接突变，2个为错义突变(17%)。与传统的毛细管测序方法相比，靶向富集型DNA系统下一代测序法检测PKD突变的时间更短。

项目成果

ADPKDのゲノム診断

ADPKD 的基因组诊断

• 作者: 森本勝彦;岩野正之;望月俊雄
• 通讯作者: 望月俊雄