| 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 |
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| 引用本文： | 沙艳伟. 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[J]. 检验医学与临床, 2021, 18(1): 12-14. DOI: 10.3969/j.issn.1672-9455.2021.01.003 |
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| 作者姓名： | 沙艳伟 |
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| 作者单位： | 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 |
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| 基金项目： | 国家自然科学基金面上项目 |
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| 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...
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| 关 键 词： | 成人型多囊肾 蛋白激酶D1基因 剪切位点突变 |
Target sequence capture combined with high-throughput sequencing for identifying PKD1 gene new mutations in adult polycystic kidney |
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| SHA Yanwei. Target sequence capture combined with high-throughput sequencing for identifying PKD1 gene new mutations in adult polycystic kidney[J]. Laboratory Medicine and Clinic, 2021, 18(1): 12-14. DOI: 10.3969/j.issn.1672-9455.2021.01.003 |
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| Authors: | SHA Yanwei |
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| Affiliation: | (Department of Andrology,Affiliated Women and Children′s Hospital,School of Medicine,Xiamen University,Xiamen,Fujian 361003,China) |
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| Abstract: | 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. |
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| Keywords: | adult polycystic kidney protein kinase D1 gene splice site mutation |
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