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Mol Cell Probes. 1999 Feb;13(1):67-9.

PCR-mediated detection of a polymorphism in the ATM gene.

Author information

1
Département de Médecine, Division d>>Oncologie, Hôpital Cantonal Universitaire de Genève, 24 rue Micheli-du-Crest, Genève 14, 1211, Switzerland. philippe.maillet@medecine.unige.ch

Abstract

In this report, the frequency of the G-->A transition polymorphism at nucleotide 5557 in exon 39 of the coding sequence of the gene mutated in ataxia-telangiectasia (ATM) was analysed. The frequency of the A and G alleles was estimated in the general population at 0. 15 and 0.85, respectively. This polymorphism can be identified by single-strand conformation polymorphism (SSCP) and by a simple and rapid Dde I digestion after polymerase chain reaction (PCR)-mediated site directed mutagenesis (PSDM).

PMID:
10024435
DOI:
10.1006/mcpr.1998.0219
[Indexed for MEDLINE]

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