Single base polymorphism linked to the ataxia-telangiectasia locus is detected by mismatch PCR.
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.
Athma
P
P
Department of Pediatrics, New York Medical College, Valhalla, USA.
Fidahusein
N
N
Swift
M
M
D000483:Alleles; D001260:Ataxia Telangiectasia / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D017931:DNA Primers; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D016296:Mutagenesis; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D015183:Restriction Mapping
D017931:DNA Primers; D004247:DNA