Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes

Analyse rapide pour détecter des homozygotes et des hétérozygotes du syndrome de louis-bar

Abstract

La présente invention porte sur des procédés pour effectuer une analyse pour identifier des homozygotes ou des hétérozygotes du syndrome de Louis-Bar. Certains modes de réalisation comprennent l'utilisation d'une analyse de kinase du syndrome de Louis-Bar (ATM) à base de cytométrie en flux rapide qui mesure une phosphorylation dépendante de ATM de SMCl à la suite d'une lésion de l'ADN.
The present disclosure relates to methods for performing an assay to identify ataxia- telangiectasia homozygotes or heterozygotes. Some embodiments include the use of a rapid flow cytometry-based ataxiatelangiectasia (ATM) kinase assay that measures ATM- dependent phosphorylation of SMCl following DNA damage.

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Patent Citations (1)

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Cited By (1)

    Publication numberPublication dateAssigneeTitle
    GB-2546719-AAugust 02, 2017Univ SouthamptonModulation of gene expression and screening for deregulated protein expression