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. 1986 Dec;23(6):516–520. doi: 10.1136/jmg.23.6.516

The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.

K Hart, C Cole, A Walker, S Hodgson, L Johnson, V Dubowitz, P Ray, R Worton, M Bobrow
PMCID: PMC1049832  PMID: 3806637

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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