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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 C07 - ORGANIC CHEMISTRY C07K - PEPTIDES
C - CHEMISTRY C12 - BIOCHEMISTRY C12Q - MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
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}
}

Patent:

Works referenced in this record:

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia
journal, January 1997


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
journal, October 1993


Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
journal, June 1995


Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations
journal, January 1998


Novel germlineAPC variants in patients with multiple adenomas
journal, August 1998


ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
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
journal, January 1998


The Product of the ATM Gene Is a 370-kDa Nuclear Phosphoprotein
journal, December 1996


Notice of duplicate publication
journal, January 1995


PIK-Related Kinases: DNA Repair, Recombination, and Cell Cycle Checkpoints
journal, October 1995


A frequent polymorphism of the gene mutated in ataxia telangiectasia
journal, February 1997


Complexity in a monogenic disease
journal, April 1996


Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase
journal, October 1995


Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
journal, April 1989


The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
journal, November 1995


A single ataxia telangiectasia gene with a product similar to PI-3 kinase
journal, June 1995


Discovery of AT gene sparks biomedical research bonanza
journal, June 1995


Mutations Revealed by Sequencing the 5' Half of the Gene for Ataxia Telangiectasia
journal, January 1996


Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype
journal, July 1998


The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer
journal, October 1995