Invention Grant
- Patent Title: Disease detection by digital protein truncation assays
- Patent Title (中): 通过数字蛋白截断检测进行疾病检测
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Application No.: US13049521Application Date: 2011-03-16
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Publication No.: US08669062B2Publication Date: 2014-03-11
- Inventor: C. Giovanni Traverso , Kenneth W. Kinzler , Bert Vogelstein
- Applicant: C. Giovanni Traverso , Kenneth W. Kinzler , Bert Vogelstein
- Applicant Address: US MD Baltimore
- Assignee: The Johns Hopkins University
- Current Assignee: The Johns Hopkins University
- Current Assignee Address: US MD Baltimore
- Agency: Banner & Witcoff, Ltd.
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12P19/34 ; C07H21/02 ; C07H21/04

Abstract:
Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays can be used to detect gene products of truncation-type mutations. However, the sensitivity of the assays is often insufficient to detect mutations present in a sample of DNA at a low frequency. Sensitivity can be increased by dividing samples so that the signal generated by a mutant allele comprises a larger fraction of the total alleles than prior to dividing. Thus a previously undetectable signal generated by the mutant allele can become detectable in the assay. Such increased sensitivity permits detection at early stages and in samples having high levels of other alleles.
Public/Granted literature
- US20110195416A1 DISEASE DETECTION BY DIGITAL PROTEIN TRUNCATION ASSAYS Public/Granted day:2011-08-11
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