发明名称 METHOD AND APPARATUS FOR DETERMINING A MUTATION
摘要 A method for determining a mutation in a sample base code sequence which is made up of a first base code sequence superimposed on a known wild type second base code sequence and having inserted or deleted nucleotides compared to the wild type second base code sequence, comprises the steps of: (a) aligning said sample base code sequence with a master base code sequence identical to said known wild type second base code sequence; (b) identifying a region of the alignment with a frequent occurrence of matching ambiguities; (c) comparing, for each individual base code position in said region of the alignment, whether the respective sample base code matches a combination of the aligned master base code and a master base code at a predetermined distance to the right or to the left of said aligned master base code; (d) summing the number of matches obtained in step (c); (e) repeating steps (c) and (d) for a number of different predetermined distances to the right and to the left of the aligned master base code; (f) assigning the distance resulting in the highest number of matches as the length of the mutation; and (g) determining on the basis of whether said distance that resulted in said highest number of matches is to the right or to the left of the aligned master base code, whether the mutation is an insertion or deletion.
申请公布号 CA2224719(A1) 申请公布日期 1997.01.09
申请号 CA19962224719 申请日期 1996.05.31
申请人 PHARMACIA BIOTECH AB 发明人 BJ RKESTEN, LENNART
分类号 C12N15/09;C12Q1/68;H03M13/00;(IPC1-7):C12Q1/68 主分类号 C12N15/09
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