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 (refs 5, 8) 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.
journal_name
Naturejournal_title
Natureauthors
Monaco AP,Bertelson CJ,Middlesworth W,Colletti CA,Aldridge J,Fischbeck KH,Bartlett R,Pericak-Vance MA,Roses AD,Kunkel LMdoi
10.1038/316842a0subject
Has Abstractpub_date
1985-08-29 00:00:00pages
842-5issue
6031eissn
0028-0836issn
1476-4687journal_volume
316pub_type
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