title: A frequent polymorphism of the gene mutated in ataxia telangiectasia.
abstract: The gene mutated in ataxia telangiectasia (AT), the ATM gene, has recently been cloned and shown to encode a multi-domain protein with homology to cell-cycle regulators. We report here an intragenic restriction fragment length polymorphism of the ATM gene that is common in the German population with allele frequencies of 0.56 and 0.44, respectively. Observed heterozygosity approximated 50% in healthy individuals as well as in 152 randomly selected breast cancer patients. We present a simple and rapid polymerase chain reaction (PCR)-based assay for this dimorphism that should be useful to trace the inheritance of ATM alleles in ataxia telangiectasia and breast cancer families and to study loss of heterozygosity in primary tumours.
authors.affiliation: Institute of Human Genetics, Medical School Hannover, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Dörk
authors.forename: S
authors.initials: S
authors.lastname: Westermann
authors.forename: O
authors.initials: O
authors.lastname: Dittrich
authors.forename: M
authors.initials: M
authors.lastname: Twardowski
authors.forename: J H
authors.initials: JH
authors.lastname: Karstens
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
mesh_terms: D000483:Alleles; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005091:Exons; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases