METHOD AND KIT FOR THE RAPID SEQUENCING OF THE HUMAN ATM GENE AND METHOD FOR THE DIAGNOSIS OF ATAXIA TELANGIECTASIA

摘要

A primer set for PCR assays to hybridize and to amplify the 65 exons of the human ATM gene, a kit and a method of rapid sequencing of the human ATM gene using said primer set are described, and also an in vitro diagnostic method for ataxia telangiectasia including the sequencing of all the exons of the human ATM gene and the detection of the presence of potential mutations on both the alleles of the gene or on only one thereof.