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Title: Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments

Abstract

The present invention is directed to a method of screening large, complex, polyexonic eukaryotic genes such as the ATM gene for mutations and polymorphisms by an improved version of single strand conformation polymorphism (SSCP) electrophoresis that allows electrophoresis of two or three amplified segments in a single lane. The present invention also is directed to new mutations and polymorphisms in the ATM gene that are useful in performing more accurate screening of human DNA samples for mutations and in distinguishing mutations from polymorphisms, thereby improving the efficiency of automated screening methods.

Inventors:
 [1]
  1. Sherman Oaks, CA
Issue Date:
Research Org.:
Univ. of California (United States)
OSTI Identifier:
874778
Patent Number(s):
6458536
Application Number:
09/360,416
Assignee:
The Regents of the University of California (Oakland, CA)
Patent Classifications (CPCs):
C - CHEMISTRY C12 - BIOCHEMISTRY C12Q - MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
C - CHEMISTRY C07 - ORGANIC CHEMISTRY C07K - PEPTIDES
DOE Contract Number:  
FG03-87ER60548
Resource Type:
Patent
Country of Publication:
United States
Language:
English
Subject:
modified; sscp; method; sequential; electrophoresis; multiple; nucleic; acid; segments; directed; screening; complex; polyexonic; eukaryotic; genes; atm; mutations; polymorphisms; improved; version; single; strand; conformation; polymorphism; allows; amplified; lane; useful; performing; accurate; human; dna; samples; distinguishing; improving; efficiency; automated; methods; nucleic acid; acid segment; /435/

Citation Formats

Gatti, Richard A. Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments. United States: N. p., 2002. Web.
Gatti, Richard A. Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments. United States.
Gatti, Richard A. Tue . "Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments". United States. https://www.osti.gov/servlets/purl/874778.
@article{osti_874778,
title = {Modified SSCP method using sequential electrophoresis of multiple nucleic acid segments},
author = {Gatti, Richard A},
abstractNote = {The present invention is directed to a method of screening large, complex, polyexonic eukaryotic genes such as the ATM gene for mutations and polymorphisms by an improved version of single strand conformation polymorphism (SSCP) electrophoresis that allows electrophoresis of two or three amplified segments in a single lane. The present invention also is directed to new mutations and polymorphisms in the ATM gene that are useful in performing more accurate screening of human DNA samples for mutations and in distinguishing mutations from polymorphisms, thereby improving the efficiency of automated screening methods.},
doi = {},
journal = {},
number = ,
volume = ,
place = {United States},
year = {2002},
month = {10}
}

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Works referenced in this record:

Issues and Updates
journal, May 1995


Strategies for Mutational Analysis of the Large Multiexon ATM Gene Using High-Density Oligonucleotide Arrays
journal, December 1998


The rapid detection of unknown mutations in nucleic acids
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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
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Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations
journal, January 1998


Ataxia-Telangiectasia Locus: Sequence Analysis of 184 kb of Human Genomic DNA Containing the Entire ATM  Gene
journal, June 1997


Multicolor molecular beacons for allele discrimination
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The Product of the ATM Gene Is a 370-kDa Nuclear Phosphoprotein
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Notice of duplicate publication
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Discovery of AT gene sparks biomedical research bonanza
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Mutations Revealed by Sequencing the 5' Half of the Gene for Ataxia Telangiectasia
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Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype
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The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer
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