Rapid screen for truncating ATM mutations by PTT-ELISA

L Du, CH Lai, P Concannon, RA Gatti - Mutation Research/Fundamental …, 2008 - Elsevier
Mutations in the ataxia-telangiectasia mutated (ATM) gene are responsible for the
autosomal recessive genetic disorder, ataxia-telangiectasia (AT). Approximately 80% of
ATM mutations found in AT patients results in truncations, which can be detected by Protein
Truncation Test (PTT). Conventional PTT uses SDS-PAGE electrophoresis to detect mobility
of radiolabeled truncated protein fragments. In this study, we developed a non-radioactive
Protein Truncation Test which utilizes an enzyme-linked immunosorbent assay (PTT-ELISA) …