title: Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.
abstract: We have screened 76 DMD and 5 BMD patients for deletions, using two separate Multiplex gene amplification systems. The use of both systems together revealed deletions in 52% of the cases in the Turkish population. The majority of these deletions (33/37) were found to be localized within the central region of the dystrophin gene. The remaining deletions were mapped to the proximal hotspot. Deletion end-points were identified by PCR and/or by Southern blot analysis with cDNA probes, and exceptions to the Open Reading Frame (ORF) hypothesis are discussed. PCR-based techniques to screen the pERT87.15/XmnI, pERT87.15/BamHI, and pERT87.8/TaqI polymorphisms were used for linkage analysis in the Turkish DMD/BMD families, and approximately 70% of the mothers at risk were found to be informative for at least one of these polymorphisms studied.
authors.affiliation: Boğaziçi University, School of Arts and Sciences, Department of Biology, Bebek-Istanbul, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Gökgöz
authors.forename: F
authors.initials: F
authors.lastname: Kuseyri
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: M
authors.initials: M
authors.lastname: Yüksel-Apak
authors.forename: B
authors.initials: B
authors.lastname: Kirdar
mesh_terms: D000328:Adult; D002648:Child; D016189:Dystrophin / Q000235:genetics; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis / Q000379:methods; D014421:Turkey / Q000453:epidemiology
chemical_list: D016189:Dystrophin