title: Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.
abstract: We used multiplex PCR and a microsatellite or STR analysis for diagnosis and carrier detection in a DMD family. Two affected patients both demonstrated deletion of exon 51 by multiplex PCR. The microsatellite or STR analysis showed that the mother and all sisters except the eldest sister of the patients carried the disease allelle. Therefore, all of them except the eldest sister were carriers. We present the need to introduce the molecular techniques to improve a mode of diagnosis and management of DMD patients in the Thai community.
authors.affiliation: Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Jongpiputvanich
authors.forename: T
authors.initials: T
authors.lastname: Norapucsunton
authors.forename: A
authors.initials: A
authors.lastname: Mutirangura
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016189:Dystrophin / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D016189:Dystrophin