公开(公告)号：EP1721014B1

公开(公告)日：2013-07-17

申请号：EP05807622.5

申请日：2005-02-18

申请人： TRUSTEES OF BOSTON UNIVERSITY

发明人： CANTOR, Charles, R. ,  DING, Chunming, Chinese University of Hong Kong

IPC分类号： C12Q1/68 ,  C12P19/34

CPC分类号： C12Q1/6827 ,  C12Q2600/156 ,  C12Q2525/186 ,  C12Q2535/125 ,  C12Q2565/627 ,  C12Q2545/101

公开(公告)号：EP1721014A2

公开(公告)日：2006-11-15

申请号：EP05807622.5

申请日：2005-02-18

申请人： THE TRUSTEES OF BOSTON UNIVERSITY

发明人： CANTOR, Charles, R. ,  DING, Chunming, Chinese University of Hong Kong

IPC分类号： C12Q1/68 ,  C12P19/34

CPC分类号： C12Q1/6827 ,  C12Q2600/156 ,  C12Q2525/186 ,  C12Q2535/125 ,  C12Q2565/627 ,  C12Q2545/101

摘要： The present invention is directed to a method for detecting and quantifying rare mutations in a nucleic acid sample. The nucleic acid molecules under investigation can be either DNA or RNA. The rare mutation can be any type of functional or non-functional nucleic acid change or mutation, such as deletion, insertion, translocation, inversion, one or more base substitution or polymorphism. Therefore, the methods of the present invention are useful in detection of rare mutations in, for example, diagnostic, prognostic and follow-up applications, when the targets are rare known nucleic acid variants mixed in with the wildtype or the more common nucleic acid variant(s).