首页> 外国专利> A METHOD FOR PREPARING THE PRIMERS FOR IN VITRO IDENTIFYING MUTATIONS WITHIN LARGED VESTIBULAR AQUEDUCT SYNDROMIC HEARING LOSS PDS GENE AND THE USE THEREOF

A METHOD FOR PREPARING THE PRIMERS FOR IN VITRO IDENTIFYING MUTATIONS WITHIN LARGED VESTIBULAR AQUEDUCT SYNDROMIC HEARING LOSS PDS GENE AND THE USE THEREOF

机译:一种制备用于在较大的前庭水肿综合征听力丧失PDS基因中体外鉴定突变的方法及其用途

摘要

The present invention relates to a method of preparing a primer used for determining the IVS7-2A→G site mutation involved in the large vestibular aqueduct syndrome. The method comprises the steps of : designing a primer pair which may introduce any base substitutive mutation in the region of 1-13 bases between upstream and downstream including the IVS7-2 mutation site (A→G) based upon the IVS7-2 A→ G mutation site in the PDS gene, so as to obtain a new restriction site which may be used for distinguishing IVS7-2 wild type A site and mutant G site in the amplification products. The present invention further relates to the primers prepared according to this method, the kit or reagent or identical product comprising the primers, and a method for determining the IVS7-2A→G site mutation of large vestibular aqueduct syndrome with said primers in vitro.
机译:本发明涉及一种用于确定与大前庭水管综合征有关的IVS7-2A→G位点突变的引物的制备方法。该方法包括以下步骤:设计引物对,该引物对可基于IVS7-2 A→在上游和下游之间的1-13个碱基的区域中引入任何碱基取代突变,包括IVS7-2突变位点(A→G)。 PDS基因中的G突变位点,从而获得新的限制性酶切位点,可用于区分扩增产物中的IVS7-2野生型A位点和突变G位点。本发明进一步涉及根据该方法制备的引物,包含该引物的试剂盒或试剂或相同的产品,以及用所述引物在体外确定大前庭水管综合征的IVS7-2A→G位点突变的方法。

著录项

  • 公开/公告号EP1990426A4

    专利类型

  • 公开/公告日2009-11-18

    原文格式PDF

  • 申请/专利权人 JIN ZHENGCE;

    申请/专利号EP20070710830

  • 发明设计人 HAN DONGYI;DAI PU;

    申请日2007-01-24

  • 分类号C12Q1/68;

  • 国家 EP

  • 入库时间 2022-08-21 18:40:22

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