Methods for detection of ataxia telangiectasia mutations

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S091100, C435S091200, C536S023500, C536S024310, C536S024330

Reexamination Certificate

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06951724

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.

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Exhibit 31 is a publication, M. Chillon et al., “Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens,”N. Engl. J. Med.332:1475-1480 (1995).
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Exhibit 36 is a publication, M. Telatar et al., “A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia Telangiectasia,”Mol. Genet . Metabol.64: 36-43 (1998).
Exhibit 37 is a publication, M.F. Lavin et al., “Eighth International Workshop on Ataxia-Telangiectasia (ATW8),”Cancer Res.59: 3845-3849 (Aug. 1, 1999). Exhibit 37 is not prior art, as it was published after the filing date of above-identified application. It is being provided for convenience only.
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Exhibit 39 is a publication, M. Telatar et al., “Atasia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations,”Am. J. Hum. Genet.62:86-97 (1998).

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