These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A frequent polymorphism of the gene mutated in ataxia telangiectasia.
    Author: Dörk T, Westermann S, Dittrich O, Twardowski M, Karstens JH, Schmidtke J, Stuhrmann M.
    Journal: Mol Cell Probes; 1997 Feb; 11(1):71-3. PubMed ID: 9076718.
    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.
    [Abstract] [Full Text] [Related] [New Search]