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The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.

1986; BMJ; Volume: 23; Issue: 6 Linguagem: Inglês

10.1136/jmg.23.6.516

1468-6244

K Hart, Charlotte G. Cole, A.P. Walker, Shirley Hodgson, Lynn Johnson, Victor Dubowitz, Peter N. Ray, Ronald G. Worton, Martin Bobrow,

Tissue Engineering and Regenerative Medicine

We have probed the DNA of 156 Duchenne muscular dystrophy (DMD) patients, representing 140 kindreds, with cloned DNA sequences derived from Xp21 and known to show deletions in some DMD patients. Sixteen cases showed a deletion, as defined by lack of hybridisation to one or more of the four probes used. However, two of these cases were brothers, so 15 independent deletions (10.7%) are represented. The deletion map is compatible with the suggested order for the sites of the probes used in the study, that is, telomere----pERT87.15----pERT87.8----pERT87.1----pX J1.1----754----centromere. Further mapping of these deletions and characterisation of the deletion breakpoints should facilitate more accurate molecular localisation of the gene or genes which, when mutated, are responsible for causing DMD.