title: High-precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography.
abstract: OBJECTIVE
  Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status.
  
  
  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 allele's identity with 99.7% confidence.
  
  
  CONCLUSIONS
  The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.
authors.affiliation: Department of Molecular Genetics, Medical Genetics Center, Egypt. elhawaryna@gmail.com
authors.forename: Nasser Attia
authors.initials: NA
authors.lastname: Elhawary
authors.forename: Rabah Mohamed
authors.initials: RM
authors.lastname: Shawky
authors.forename: Nermine
authors.initials: N
authors.lastname: Elsayed
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D018895:Microsatellite Repeats; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015203:Reproducibility of Results; D020080:Tandem Repeat Sequences
chemical_list: D016189:Dystrophin