Methods for detection of ataxia telangiectasia mutations

Gatti, Richard A.

Methods for detection of ataxia telangiectasia mutations

Patent · 04 October 2005

OSTI ID:1175519

Gatti, Richard A.

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.

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Research Organization:: The Regents of the University of California, Oakland, CA (United States)

Sponsoring Organization:: USDOE

DOE Contract Number:: FG03-87ER60548

Assignee:: The Regents of the University of California (Oakland, CA)

Patent Number(s):: 6,951,724

Application Number:: 10/175,225

OSTI ID:: 1175519

Country of Publication:: United States

Language:: English

References (21)

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