Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.
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.
Gökgöz
N
N
Boğaziçi University, School of Arts and Sciences, Department of Biology, Bebek-Istanbul, Turkey.
Kuseyri
F
F
Topaloğlu
H
H
Yüksel-Apak
M
M
Kirdar
B
B
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
D016189:Dystrophin