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  • Title: Single base polymorphism linked to the ataxia-telangiectasia locus is detected by mismatch PCR.
    Author: Athma P, Fidahusein N, Swift M.
    Journal: Biochem Biophys Res Commun; 1995 May 25; 210(3):982-6. PubMed ID: 7763272.
    Abstract:
    A polymorphic site at D11S384, which shows zero recombination with the ataxia-telangiectasia (A-T) locus, was originally detected by Mutation Detection Enhancement Gel and Denaturing Gradient Gel Electrophoresis. In order to increase the throughput and decrease the complexity of the assays, we developed a site directed mutagenesis using primers with mismatched 3' ends, followed by restriction digestion, as a rapid, nonradioactive method for detecting polymorphisms/mutations.
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