发明授权
- 专利标题： MOLECULAR DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS
- 专利标题（中）： 分子诊断家族性腺瘤性息肉病
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申请号： EP95905313.3申请日： 1994-12-13
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公开(公告)号： EP0734456B1公开(公告)日： 2003-03-05
- 发明人: KINZLER, Kenneth, W. , VOGELSTEIN, Bert
- 申请人： The Johns Hopkins University
- 申请人地址： 111 Market Place, Suite 906 Baltimore, MD 21201 US
- 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： 111 Market Place, Suite 906 Baltimore, MD 21201 US
- 代理机构： Tombling, Adrian George
- 优先权： US169303 19931215
- 国际公布： WO95017523 19950629
- 主分类号： C12Q1/68
- IPC分类号： C12Q1/68
摘要：
A two-pronged method for diagnosis of genetic diseases can detect mutations in about 87 % of familial adenomatous polyposis (FAP) patients. One part of the diagnostic method employs in vitro protein synthesis from surrogate genes created by amplifying either cDNA or genomic DNA. The second part of the diagnostic method employs an allele-specific expression assay which distinguishes the amount of mRNA expressed in vivo from each of a patient's two alleles. These approaches are readily applicable to the diagnosis of other genetic diseases.
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