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    • 5. 发明申请
    • METHOD FOR IDENTIFICATION OF MUTATIONS USING LIGATION OF MULTIPLE OLIGONUCLEOTIDE PROBES
    • 使用多个寡核苷酸探针识别突变体的方法
    • WO9708344A2
    • 1997-03-06
    • PCT/US9614020
    • 1996-08-28
    • VISIBLE GENETICS INCYAGER THOMAS DDUNN JAMES M
    • YAGER THOMAS DDUNN JAMES M
    • C12N15/09C12Q1/68
    • C12Q1/6827C12Q2563/107C12Q2533/107C12Q2527/107
    • A ligase-based assay which relies only upon knowledge of the wild-type sequence of a gene or gene fragment is used to detect all types of mutations, i.e., point mutations, insertions and deletions. The assay makes use of a set of oligonucleotide probes, which may be packaged in kit form, which hybridize in series along the length of the gene. The ligation of the probes together form a ligation product, the size of which is evaluated. When the gene or gene fragment being analyzed corresponds to the normal sequence and thus perfectly matches the probes, all of the probes in the set are ligated together, and the ligation product has a certain resulting size. When a mutation appears in the gene, the hybridization of the probe overlapping the mutation is impaired, with the result that some or all of the ligation product is of smaller size. By evaluating the size of the ligation product, both the existence of a mutation and its approximate position can be identified.
    • 仅依赖于基因或基因片段的野生型序列的知识的基于连接酶的测定法用于检测所有类型的突变,即点突变,插入和缺失。 该测定使用一组寡核苷酸探针,其可以以试剂盒形式包装,其沿着该基因的长度串联杂交。 探针的连接形成连接产物,评价其尺寸。 当分析的基因或基因片段对应于正常序列,从而完美匹配探针时,将所有组中的所有探针连接在一起,并且连接产物具有一定的最终尺寸。 当基因中出现突变时,与突变重叠的探针的杂交受损,结果是部分或全部连接产物的尺寸较小。 通过评估连接产物的大小,可以确定突变的存在及其近似位置。