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 language | English |
|---|---|
| Pages (from-to) | 842-845 |
| Number of pages | 4 |
| Journal | Nature |
| Volume | 316 |
| Issue number | 6031 |
| DOIs | |
| State | Published - Oct 31 1985 |
| Externally published | Yes |
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Cite this
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 journal › Article
}
TY - JOUR
T1 - Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
AU - Monaco, A. P.
AU - Bertelson, C. J.
AU - Middlesworth, W.
AU - Colletti, C. A.
AU - Aldridge, J.
AU - Fischbeck, K. H.
AU - Bartlett, R.
AU - Pericak-Vance, Margaret A
AU - Roses, A. D.
AU - Kunkel, L. M.
PY - 1985/10/31
Y1 - 1985/10/31
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0021863554&partnerID=8YFLogxK
U2 - 10.1038/316842a0
DO - 10.1038/316842a0
M3 - Article
C2 - 2993910
AN - SCOPUS:0021863554
VL - 316
SP - 842
EP - 845
JO - Nature
JF - Nature
SN - 0028-0836
IS - 6031
ER -