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    DNA sequence analysis
    7.
    发明授权
    DNA sequence analysis 有权
    DNA序列分析

    公开(公告)号：US07351532B2

    公开(公告)日：2008-04-01

    申请号：US10547062

    申请日：2004-02-26

    申请人： Harold Philip Swerdlow ,  Colin Barnes ,  John Andrew Todd ,  Richard Michael Durbin

    发明人： Harold Philip Swerdlow ,  Colin Barnes ,  John Andrew Todd ,  Richard Michael Durbin

    IPC分类号： C12Q1/68 ,  C07H21/02 ,  C07H21/04

    CPC分类号： C12Q1/6827 ,  C12Q2525/301 ,  C12Q2561/125

    摘要： There is disclosed a method for determining the identity of one or more mutations or single nucleotide polymorphisms (SNPs) in a genome, comprising: a contacting a sample genome, under conditions which permit template dependant oligonucleotide ligation, with a plurality of different oligonucleotide molecules which comprise (i) a first set of oligonucleotides each comprising a sequence of nucleotides that is complementary to a region on said genome that includes a known SNP site and which oligonucleotides are complementary to said region other than at a base at or near the 5′ end of said oligonucleotides that is to be tested for complementarity to a base at the SNP site, each of said oligonucleotides comprising a unique label to identify both the base to be tested and the position of the SNP to be scored, (ii) a second set of oligonucleotides each comprising a sequence of nucleotides complementary to a region on said target genome for hybridisation with said target genome adjacent the 5′ end of an oligonucleotide of said first oligonucleotide set, and a surface capture moiety, a phosphate moiety being located at any of either the 5′ end of said first set of oligonucleotides or the 3′ end of said second set of oligonucleotides, any resulting ligated oligonucleotide being immobilised on a solid support via the surface capture moiety, b. analysing said solid support for the identity of one or more of said unique labels and comparing the defined bases in any of said immobilised oligonucleotides to those of the reference one or more SNPs.

    摘要翻译： 公开了一种用于确定基因组中一个或多个突变或单核苷酸多态性（SNP）的身份的方法，其包括：在允许模板依赖性寡核苷酸连接的条件下使样品基因组与多种不同的寡核苷酸分子接触，所述寡核苷酸分子 包括（i）第一组寡核苷酸，每组寡核苷酸包含与所述基因组上包含已知SNP位点的区域互补的核苷酸序列，并且哪些寡核苷酸除了在5'端或附近的碱基处与所述区域互补 待测试的与SNP位点的碱基互补的所述寡核苷酸，每个所述寡核苷酸包含唯一的标记，以鉴别要测试的碱基和待评估的SNP的位置，（ii）第二组 的寡核苷酸，其各自包含与所述靶基因组上的区域互补的核苷酸序列，用于与所述靶基因组相邻5相杂交 末端的所述第一寡核苷酸组的寡核苷酸，以及表面捕获部分，磷酸酯部分位于所述第一组寡核苷酸的5'端或所述第二组寡核苷酸的3'末端中的任一个，任何所得 连接的寡核苷酸通过表面捕获部分固定在固体支持物上，b。 分析所述固体支持物中的一种或多种所述独特标记的身份，并将任何所述固定的寡核苷酸中的所定义的碱基与所述参考的一个或多个SNP的那些进行比较。