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Updated: Aug 25, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Single base polymorphism linked to the ataxia-telangiectasia locus is detected by mismatch PCR
P Athma1, N Fidahusein, M Swift
1Department of Pediatrics, New York Medical College, Valhalla, USA.
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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