title: Detection of DMD gene deletions in Thai children patients.
abstract: For the dystrophin gene, it has been shown that about 65% of DMD/BMD patients have detectable deletions. The majority of deletions are clustered in exons 45-53 and at the 5' terminus. We studied 14 X-linked muscular dystrophy (DMD) Thai child patients for detection of gene deletions by amplification of nine exons plus the promoter of the dystrophin gene in two multiplex polymerase chain reactions that included hot spot region (exons 45-53 and 5' terminus). There were 8 DMD patients who had incomplete gene deletion and most of the deletions were around exon 49. PCR-base assays will allow deletion detection from dry blood spot samples and prenatal diagnosis.
authors.affiliation: Department of Pediatrics, Pramongkutklao Hospital, Thailand.
authors.forename: M
authors.initials: M
authors.lastname: Kamolsilp
authors.forename: R
authors.initials: R
authors.lastname: Paditaporn
authors.forename: A
authors.initials: A
authors.lastname: Noonai
authors.forename: P
authors.initials: P
authors.lastname: Wasant
mesh_terms: D017668:Age of Onset; D001483:Base Sequence; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D016189:Dystrophin / Q000235:genetics*; D004576:Electromyography; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013785:Thailand; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D016189:Dystrophin