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

Objectives Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status. Design and methods IP-RP-HPLC was developed for genotyping of 98 chromosomes. Results The typing of 2-bp STRs with mean SD of ± 0.43 bp ensured an alleleʹs identity with 99.7% confidence. Conclusion The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.