靶向序列捕获联合高通量测序鉴定成人型多囊肾PKD1基因新突变  

Target sequence capture combined with high-throughput sequencing for identifying PKD1 gene new mutations in adult polycystic kidney

作　　者：沙艳伟 SHA Yanwei(Department of Andrology,Affiliated Women and Children′s Hospital,School of Medicine,Xiamen University,Xiamen,Fujian 361003,China)

机构地区：[1]厦门大学附属妇女儿童医院/福建省厦门市妇幼保健院男科,福建厦门361003

出　　处：《检验医学与临床》2021年第1期12-14,共3页Laboratory Medicine and Clinic

基　　金：国家自然科学基金面上项目(81871200)。

摘　　要：目的探讨一个成人型多囊肾蛋白激酶D1(PKD1)基因新剪切位点突变及临床表型。方法收集一个成人型多囊肾病家系临床资料,对家系内成员采用靶向序列捕获对PKD1基因行高通量测序,并结合文献加以分析。结果该家系中先证者存在成人型多囊肾PKD1基因的c.12138+1G>A(IVS44)突变,而在家系内父亲因多囊肾引发尿毒症去世,先证者母亲一代测序结果正常。结论PKD1基因剪切位点突变是中国人群中成人型多囊肾原因之一,丰富了成人型多囊肾PKD1基因突变谱。Objective To investigate the new splice site mutation of protein kinase D1(PKD1)in adult polycystic kidney and its clinical phenotypes.Methods The clinical data of a family with adult polycystic kidney disease were collected and the PKD1 gene in his family members conducted the high-throughput sequencing by adopting the target sequence capture.The results were analyzed by combining with the literature.Results The c.12138+1G>A(IVS44)mutation of PKD1 gene in adult polycystic kidney existed in the probands of this family.The father of this family died due to uremia caused by polycystic kidney.The mother′s generation sequencing results of the probands were normal.Conclusion The PKD1 gene splice site mutation is one of the causes of adult polycystic kidney in the Chinese population and enriches the PKD1 gene mutation spectrum of adult polycystic kidney.

关 键 词：成人型多囊肾 蛋白激酶D1基因 剪切位点突变 

分 类 号：R692.12[医药卫生—泌尿科学]