Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR

Gökgöz N, Kuseyri F, Topalolu H, Yüksel-Apak M, Kirdar B. Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.
Clin Genet 1993: 43: 261–266. © Munksgaard, 1993
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 pER.T87.15/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.