High-precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography

ObjectivesGenetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status.Design and methodsIP-RP-HPLC was developed for genotyping of 98 chromosomes.ResultsThe typing of 2-bp STRs with mean SD of ± 0.43 bp ensured an allele's identity with 99.7% confidence.ConclusionThe automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.