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

Abstract

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), BgAlI (four), or Psd (three). The five polymorphisms are analysed concomitant with screening for deletions on the TaqI map, and in the onethird 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'.

Gene Transfer and Therapy in the Nervous System

“…Further evidence was the intensity of the 28S ribosomal RNA bands in ethidium stained gels and the use of the same RNA samples for PCR analysis. A mutation such as this is also the explanation for the precise skipping of exon seven during mRNA processing that we have identified in GRMD (Sharp et al 1992) and might also explain the defect found in some DMD patients who lack genomic deletions Walker et al 1989Walker et al , 1992Koenig et al 1987). 1986Horowitz et al 1989).…”

Preimplantation Diagnosis of Duchenne Muscular Dystrophy

“…c h a r a c t e r i ze d t h e n o r m a l cD N A hybridization pattern for Taq I and arranged the exon containing fragments into a partial Taq I map. The cDNA probes 2b-3, 5b-7-a, 8, 10, and 11-14-a each identified a Taq I RFLP, making a total of five cDNA RFLPs which are detected with this enzyme, spanning the length of the dystrophin gene [34].…”