Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

A. P. Monaco, C. J. Bertelson, W. Middlesworth, C. A. Colletti, J. Aldridge, K. H. Fischbeck, R. Bartlett, Margaret A Pericak-Vance, A. D. Roses, L. M. Kunkel

Research output: Contribution to journalArticle

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Abstract

The Duchenne muscular dystrophy (DMD) locus has been localized to the short arm of the human X chromosome (Xp21) by detection of structural abnormalities and by genetic linkage studies. A library highly enriched for human DNA from Xp21 was constructed using DNA isolated from a male patient who had a visible deletion and three X-linked disorders (DMD, retinitis pigmentosa and chronic granulomatous disease). Seven cloned DNA probes from this library and the probe 754 are used in the present study to screen for deletions in the DNA isolated from 57 unrelated males with DMD. Five of these DMD males are shown to exhibit deletions for one of the cloned DNA segments and at least 38 kb of surrounding DNA. In addition, two subclones from the same region detect four restriction fragment length polymorphisms which exhibit no obligate recombination with DMD in 34 meiotic events. These new DNA segments will complement the existing Xp21 probes for use in carrier detection and prenatal diagnosis of DMD. Elucidation of the end points of the five deletions will help delineate the extent of the DMD locus and ultimately lead to an understanding of the specific sequences involved in DMD.

Original languageEnglish
Pages (from-to)842-845
Number of pages4
JournalNature
Volume316
Issue number6031
DOIs
StatePublished - Oct 31 1985
Externally publishedYes

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Duchenne Muscular Dystrophy
DNA
Chromosomes, Human, X
Chronic Granulomatous Disease
Genetic Linkage
Retinitis Pigmentosa
DNA Probes
Prenatal Diagnosis
Gene Library
Restriction Fragment Length Polymorphisms
Genetic Recombination
Libraries

ASJC Scopus subject areas

  • General

Cite this

Monaco, A. P., Bertelson, C. J., Middlesworth, W., Colletti, C. A., Aldridge, J., Fischbeck, K. H., ... Kunkel, L. M. (1985). Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature, 316(6031), 842-845. https://doi.org/10.1038/316842a0

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. / Monaco, A. P.; Bertelson, C. J.; Middlesworth, W.; Colletti, C. A.; Aldridge, J.; Fischbeck, K. H.; Bartlett, R.; Pericak-Vance, Margaret A; Roses, A. D.; Kunkel, L. M.

In: Nature, Vol. 316, No. 6031, 31.10.1985, p. 842-845.

Research output: Contribution to journalArticle

Monaco, AP, Bertelson, CJ, Middlesworth, W, Colletti, CA, Aldridge, J, Fischbeck, KH, Bartlett, R, Pericak-Vance, MA, Roses, AD & Kunkel, LM 1985, 'Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment', Nature, vol. 316, no. 6031, pp. 842-845. https://doi.org/10.1038/316842a0
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 1985 Oct 31;316(6031):842-845. https://doi.org/10.1038/316842a0
Monaco, A. P. ; Bertelson, C. J. ; Middlesworth, W. ; Colletti, C. A. ; Aldridge, J. ; Fischbeck, K. H. ; Bartlett, R. ; Pericak-Vance, Margaret A ; Roses, A. D. ; Kunkel, L. M. / Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. In: Nature. 1985 ; Vol. 316, No. 6031. pp. 842-845.
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