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NEJM：外显子组测序技术检测先天性疾病突变基因

2013-07-19 MedSci NEJM

基因测序技术
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日前，哥伦比亚大学医学中心的研究人员首次发现了可导致先天性肾脏和尿道畸形的突变基因。先天性肾脏和尿道缺陷是常见的出生缺陷，也是引起儿童肾脏衰竭的最常见原因。 由Ali Gharavi带领的研究团队们研究了具有先天性肾脏和尿道缺陷的撒丁岛家族。几个家族的成员在很小时就患有了肾脏衰竭。研究人员使用最新的外显子组测序技术发现了一个称为双丝氨酸/苏氨酸和酪氨酸蛋白激酶（DSTYK）的基因发生了突变。

日前，哥伦比亚大学医学中心的研究人员首次发现了可导致先天性肾脏和尿道畸形的突变基因。先天性肾脏和尿道缺陷是常见的出生缺陷，也是引起儿童肾脏衰竭的最常见原因。

由Ali Gharavi带领的研究团队们研究了具有先天性肾脏和尿道缺陷的撒丁岛家族。几个家族的成员在很小时就患有了肾脏衰竭。研究人员使用最新的外显子组测序技术发现了一个称为双丝氨酸/苏氨酸和酪氨酸蛋白激酶（DSTYK）的基因发生了突变。

研究人员筛选了 311 个来自欧洲的具有尿道缺陷的人，其中 7 个也带有 DSTYK 的突变。研究人员表示，这些发现阐明 DSTYK 突变发生率大约在 2.2% 的具有尿道缺陷的人群中。这个发现非常重要在单基因突变引起的疾病中。

一些先天性尿道缺陷的病例中发现出生后就患有肾脏衰竭。这项发现将会指导临床医生做出一个准确的分子诊断并发现突变的携带者，这些携带者很可能有并发症的风险。

研究人员指出，外显子组基因测序是诊断先天性障碍性疾病的一种手段。这种方法使我们在撒丁岛家族人群中检测到了突变基因。

研究人员正计划使用外显子组测序法研究患者和其它类型的先天性尿道缺陷。研究人员表示，通过发现新的疾病的种类，科学家们可以研究每一种基因的亚型和发现多种疾病的临床变化过程和并发症。

原始出处：

Simone Sanna-Cherchi, Rosemary V. Sampogna, Natalia Papeta, Katelyn E. Burgess, Shannon N. Nees, Brittany J. Perry, Murim Choi, Monica Bodria, Yan Liu, Patricia L. Weng, Vladimir J. Lozanovski, Miguel Verbitsky, Francesca Lugani, Roel Sterken, Neal Paragas, Gianluca Caridi, Alba Carrea, Monica Dagnino, Anna Materna-Kiryluk, Giuseppe Santamaria, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Nilgun Kacak, Beatrice Bianco, Stefania Giberti, Maddalena Gigante, Giorgio Piaggio, Loreto Gesualdo, Durdica Kosuljandic Vukic, Katarina Vukojevic, Mirna Saraga-Babic, Marijan Saraga, Zoran Gucev, Landino Allegri, Anna Latos-Bielenska, Domenica Casu, Matthew State, Francesco Scolari, Roberto Ravazzolo, Krzysztof Kiryluk, Qais Al-Awqati, Vivette D. D'Agati, Iain A. Drummond, Velibor Tasic, Richard P. Lifton, Gian Marco Ghiggeri, Ali G. Gharavi.Mutations inDSTYKand Dominant Urinary Tract Malformations. New England Journal of Medicine, July 17, 2013DOI: 10.1056/NEJMoa1214479

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    2014-01-14 achengzhao

    #外显子组#

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    2014-03-19 dlwang_26703136

    #外显子组测序#

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    2013-07-21 huirong

    #先天性#

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    2013-07-21 ms1490123962508630

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    2013-07-21 docwu2019

    #外显子#

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