High-precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography.
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.
Elhawary
Nasser Attia
NA
Department of Molecular Genetics, Medical Genetics Center, Egypt. elhawaryna@gmail.com
Shawky
Rabah Mohamed
RM
Elsayed
Nermine
N
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
D016189:Dystrophin