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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.

The molecular genetics of Duchenne/Becker muscular dystrophy was investigated in 81 affected Turkish families. Deletions were detected by multiplex polymerase chain reaction assays and cDNA Southern analyses. The distribution of the deletions along the gene and their correlation to clinical phenotype were different from the studies reported on other populations. Moreover, DNA polymorphisms in mothers were determined using 8 DNA probes and three CA repeat sequences, and a high degree of informativeness was observed.

We applied DNA analysis techniques to Turkish families whose members were afflicted with Duchenne/Becker muscular dystrophy. The aim of this study was to establish a prenatal diagnosis of this anomaly and to determine the carrier state. All of the techniques used in established diagnosis centers are now applied routinely in our laboratory. Both Southern analysis and polymerase chain reaction (PCR) methods were used for deletion detection in patients and restriction enzyme fragment length polymorphism (RFLP) determination for linkage analysis in women at risk. CA repeated sequence length polymorphism, the most recent technique for linkage analysis, was also applied. About 250 individuals from seventy-nine families were investigated and thirty-six entire families were screened. Twenty-five women were found to be carriers while thirty seven were non-carriers. The carrier state could not be determined in three women.