title: Deletion screening and carrier detection in Duchenne muscular dystrophy in Polish population via direct analysis of DNA and RNA transcripts.
abstract: Analysis of 102 Polish Duchenne/Becker muscular dystrophy (D/BMD) patients was performed by 'multiplex' amplification of 22 fragments of the DMD/BMD gene and deletions were found in 55% of the patients. The data obtained using PCR were compared with results of 25 Southern blotting and hybridization experiments with cDNA probes and with immunostaining using anti-dystrophin antibodies. In order to determine more precise deletion breakpoints, additional experiments were performed on dystrophin transcripts isolated from peripheral blood lymphocytes. These data found direct application in carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments. Carrier detection was also performed by RFLP-PCR, analysis of polymorphic (CA)n repeats and single stranded conformational polymorphism (SSCP) for selected exons of the DMD gene.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Kwiatkowska
authors.forename: D
authors.initials: D
authors.lastname: Lisiecka
authors.forename: J
authors.initials: J
authors.lastname: Sowinska
authors.forename: E
authors.initials: E
authors.lastname: Marszal
authors.forename: E
authors.initials: E
authors.lastname: Emich-Widera
authors.forename: T
authors.initials: T
authors.lastname: Ciesielski
authors.forename: A
authors.initials: A
authors.lastname: Szczególa-Przymusiak
authors.forename: P
authors.initials: P
authors.lastname: Nuc
authors.forename: H
authors.initials: H
authors.lastname: Chlebowska
authors.forename: J
authors.initials: J
authors.lastname: Zimowski
authors.forename: B
authors.initials: B
authors.lastname: Galas-Zgorzalewicz
authors.forename: R
authors.initials: R
authors.lastname: Slomski
mesh_terms: D004247:DNA / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012313:RNA / Q000097:blood*; D017384:Sequence Deletion; D014158:Transcription, Genetic
chemical_list: D012313:RNA; D004247:DNA