Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel

Human Mutation
S GiladA Bar-Shira

Abstract

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, immunodeficiency, cancer predisposition, and radiation sensitivity. The responsible gene, ATM, has an extensive genomic structure and encodes a large transcript with a 9.2 kb open reading frame (ORF). A-T mutations are extremely variable and most of them are private. We streamlined a high throughput protocol for the search for ATM mutations. The entire ATM ORF is amplified in a single RT-PCR step requiring a minimal amount of RNA. The product can serve for numerous nested PCRs in which overlapping portions of the ORF are further amplified and subjected to restriction endonuclease fingerprinting (REF) analysis. Splicing errors are readily detectable during the initial amplification of each portion. Using this protocol, we identified 5 novel A-T mutations and completed the elucidation of the molecular basis of A-T in the Israeli population.

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Citations

Jan 31, 2013·Journal of the American Academy of Dermatology·Shoshana GreenbergerAndreea Nissenkorn
Jul 17, 2007·American Journal of Medical Genetics. Part a·Neora AltermanYosef Shiloh
Apr 29, 1998·American Journal of Human Genetics·S GiladA Bar-Shira
Dec 1, 2007·Biochimica Et Biophysica Acta·Alessandra MasciPaolo Sarti
Apr 27, 2002·American Journal of Medical Genetics·Joël Zlotogora
Oct 4, 2011·Neurogenetics·Ilja DemuthRaymonda Varon
Nov 24, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·K E NicholsL Diller
Nov 18, 2000·European Journal of Biochemistry·E CappelliG Frosina
May 16, 2012·Cancer Discovery·Nicholas J RobertsAlison P Klein

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