A TaqI map of the dystrophin gene useful for deletion and carrier status analysis

We describe a partial TaqI map of the dystrophin gene, obtained mainly by analysis of 87 overlapping DMD/BMD deletions with small fragments of the dystrophin cDNA probes; exon 6 of the dystrophin gene was identified on the TaqI map using the polymerase chain reaction. The cDNA probes detect five polymorphisms with TaqI, more than with HindIII (one), BglII (four), or PstI (three). The five polymorphisms are analysed concomitant with screening for deletions on the TaqI map, and in the one-third of DMD/BMD cases with no detected deletion the polymorphism information may be used for counselling. Correlation of the TaqI map with the HindIII map in the region of probes 5b-7 and 8 has allowed the establishment of reading frame. In this region of the dystrophin gene, all of 41 DMD deletions resulted in a shift of reading frame and all of 10 BMD patients maintained reading frame, in agreement with the 'reading frame hypothesis'.