首页> 外国专利> POLD1 EXHIBITING GENETIC PLEIOTROPY AND METHOD FOR DIAGNOSING DISEASES BY USING SAME

POLD1 EXHIBITING GENETIC PLEIOTROPY AND METHOD FOR DIAGNOSING DISEASES BY USING SAME

机译:POLD1遗传遗传学和使用相同方法诊断疾病的方法

摘要

The present invention relates to a kit for diagnosing cancer, MDP syndrome and sensorineural hearing loss by using POLD1 exhibiting genetic pleiotropy, and a method for providing information for the diagnosis. The phenotypes of POLD1 mutation are expressed in cancer, MDP syndrome, and sensorineural hearing loss according to the genotypes, and thus the activity of DNA polymerases and exonucleases of POLD1 active domains according to one aspect are measured such that cancer, MDP syndrome, and sensorineural hearing loss can be simultaneously identified, thereby enabling early diagnosis of diseases and personalized treatment.
机译:本发明涉及通过使用表现出遗传多效性的POLD1诊断癌症,MDP综合征和感觉神经性听力丧失的试剂盒,以及提供用于诊断的信息的方法。根据基因型,POLD1突变的表型在癌症,MDP综合征和感音神经性听力减退中表达,因此,根据一个方面,测量了POLD1活性域的DNA聚合酶和核酸外切酶的活性,从而检测出癌症,MDP综合征和感音神经可以同时识别听力损失,从而实现疾病的早期诊断和个性化治疗。

著录项

  • 公开/公告号WO2018169333A1

    专利类型

  • 公开/公告日2018-09-20

    原文格式PDF

  • 申请/专利权人 SEOUL NATIONAL UNIVERSITY HOSPITAL;

    申请/专利号WO2018KR03063

  • 发明设计人 CHOI BYUNG YOON;OH DOO YI;

    申请日2018-03-15

  • 分类号C12Q1/6883;G01N33/68;

  • 国家 WO

  • 入库时间 2022-08-21 12:42:39

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