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 se parate Multiplex gene amplification systems. The use of both systems t ogether revealed deletions in 52% of the cases in the Turkish populati on. The majority of these deletions (33/37) were found to be localized within the central region of the dystrophin gene. The remaining delet ions were mapped to the proximal hotspot. Deletion end-points were ide ntified by PCR and/or by Southern blot analysis with cDNA probes, and exceptions to the Open Reading Frame (ORF) hypothesis are discussed. P CR-based techniques to screen the pERT87.15/XmnI, pERT87.15/BamHI, and pERT87.8/TaqI polymorphisms were used for linkage analysis in the Tur kish DMD/BMD families, and approximately 70% of the mothers at risk we re found to be informative for at least one of these polymorphisms stu died.