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METHOD FOR DETECTING RENAL COLOBOMA SYNDROME

机译:检测肾小球综合征的方法

摘要

PROBLEM TO BE SOLVED: To provide a new biomarker for detecting renal coloboma syndrome disease by gene analysis.SOLUTION: There is provided a method for detecting renal coloboma syndrome in which one or more of the following gene abnormality is detected. More specifically, 119-th and 120-th bases GC are deleted in a coding region of human PAX2 gene. A base C is substituted for a 212-th base G: 58 to 64-th bases "GTGAACC" are duplicately inserted: a base A is substituted for 187-th base G: 224-th and 225-th bases "CC" are duplicately inserted: a base A is substituted for a 1023-rd base C: a base T is substituted for a 2814-th base C in a coding region of a human SALL4 gene: a base T is substituted for a 1565-th base G in a coding region of a human CHD7 gene: a base A is substituted for a 569-th base T in a coding region of a human SIX4 gene: 5489-th to 5510-th bases "ACCTCGCCCCCCAGCTCCGGGG" in a coding region of a human KIF26B gene are deleted.SELECTED DRAWING: Figure 2
机译:解决的问题:提供一种通过基因分析检测肾小球瘤综合征疾病的新生物标志物。解决方案:提供了一种检测肾小球瘤综合征的方法,其中检测了以下一种或多种基因异常。更具体地,在人PAX2基因的编码区域中缺失了第119个碱基和第120个碱基的GC。用碱基C代替第212个碱基G:重复插入58至64个碱基“ GTGAACC”:用碱基A代替第187个碱基G:分别使用第224个和第225个碱基“ CC”重复插入:在人SALL4基因的编码区中,碱基A取代了1023位碱基C:碱基T取代了2814位碱基C:碱基T取代了1565位碱基G在人CHD7基因的编码区中:在人SIX4基因的编码区中,碱基A取代了第569个碱基T:在人的编码区中,第5489至5510个碱基“ ACCTCGCCCCCCAGCTCCGGGG” KIF26B基因被删除。选择的图:图2

著录项

  • 公开/公告号JP2016182067A

    专利类型

  • 公开/公告日2016-10-20

    原文格式PDF

  • 申请/专利权人 KANAZAWA UNIV;

    申请/专利号JP20150063841

  • 发明设计人 WADA TAKASHI;FURUICHI KENGO;

    申请日2015-03-26

  • 分类号C12Q1/68;C12N15/09;

  • 国家 JP

  • 入库时间 2022-08-21 14:47:09

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