Mismatch repair detection

US20050239080A1Inactive Publication Date: 2005-10-27THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV +1
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Patent Information

Authority / Receiving Office
US · United States
Current Assignee / Owner
THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV
Publication Date
2005-10-27
Estimated Expiration
Not applicable · inactive patent

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Abstract

Mismatch Repair Detection (MRD), a novel method for DNA-variation detection, utilizes bacteria to detect mismatches by a change in expression of a marker gene. DNA fragments to be screened for variation are cloned into two MRD plasmids, and bacteria are transformed with heteroduplexes of these constructs. Resulting colonies express the marker gene in the absence of a mismatch, and lack expression in the presence of a mismatch. MRD is capable of detecting a single mismatch within 10 kb of DNA. In addition, MRD can analyze many fragments simultaneously, offering a powerful method for high-throughput genotyping and mutation detection.
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Description

CROSS-REFERENCE TO RELATED APPLICATIONS

[0001] This application is a continuation-in-part of U.S. patent application Ser. No. 08 / 713,751, filed Sep. 13, 1996; which claims priority to U.S. Provisional Patent Application No. 60 / 004,664, filed Oct. 2, 1995.GOVERNMENT GRANTS

[0002] This invention was made with government support under Contract Nos. HD 24610 07-10 and 5T32GM07618 awarded by the National Institutes of Health. The Government has certain rights in this invention.INTRODUCTION

[0003] Background

[0004] The detection of mutations in genomic DNA plays a critical role in efforts to elucidate the genetic basis of human disease. For many types of genetic screening and analysis, knowledge of the presence of a mutated copy of a gene is essential. Such information may be used in prenatal and other genetic testing, as well as analysis of tumor cells and other somatic mutations. For many genes, there are a number of different mutations that can affect function.

[0005] Common diseases s...

Claims

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