Title: Methods for detection of ataxia telangiectasia mutations

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:

Gatti, Richard A.

Issue Date:

Tue Oct 04 00:00:00 EDT 2005

Research Org.:

Univ. of California, Oakland, CA (United States)

Sponsoring Org.:

USDOE

OSTI Identifier:

1175519

Patent Number(s):

6951724

Application Number:

10/175,225

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

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C - CHEMISTRY C07 - ORGANIC CHEMISTRY C07K - PEPTIDES

C07K14/47 - from mammals

C - CHEMISTRY C12 - BIOCHEMISTRY C12Q - MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS

C12Q1/6827 - for detection of mutation or polymorphism
C12Q1/6883 - for diseases caused by alterations of genetic material
C12Q2531/113 - PCR
C12Q2537/143 - Multiplexing, i.e. use of multiple primers or probes in a single reaction, usually for simultaneously analyse of multiple analysis
C12Q2565/131 - Single/double strand conformational analysis, i.e. SSCP/DSCP
C12Q2600/156 - Polymorphic or mutational markers

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DOE Contract Number:  

FG0387ER60548

Resource Type:

Patent

Country of Publication:

United States

Language:

English

Subject:

60 APPLIED LIFE SCIENCES