发明授权
US08048627B2 Method and compositions for detection and enumeration of genetic variations
有权
用于检测和计数遗传变异的方法和组合物
- 专利标题: Method and compositions for detection and enumeration of genetic variations
- 专利标题(中): 用于检测和计数遗传变异的方法和组合物
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申请号: US10562840申请日: 2004-06-09
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公开(公告)号: US08048627B2公开(公告)日: 2011-11-01
- 发明人: Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
- 申请人: Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
- 申请人地址: US MD Baltimore
- 专利权人: The Johns Hopkins University
- 当前专利权人: The Johns Hopkins University
- 当前专利权人地址: US MD Baltimore
- 代理机构: Banner & Witcoff, Ltd.
- 国际申请: PCT/US2004/015587 WO 20040609
- 国际公布: WO2005/010145 WO 20050203
- 主分类号: C12Q1/68
- IPC分类号: C12Q1/68 ; C12P19/34 ; C07H21/02
摘要:
Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
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