Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1982-11

AUTHORS

J. M. Murray, K. E. Davies, P. S. Harper, L. Meredith, C. R. Mueller, R. Williamson

ABSTRACT

Duchenne muscular dystrophy (DMD) is one of the most common and serious human X-linked disorders. It occurs at a frequency of up to 1 in 5,000 newborn males in most populations studied, with about one-third of all cases due to new mutations1. The primary biochemical defect remains unknown, and no proven prenatal diagnostic test exists, although raised serum creatine kinase levels act as a somewhat equivocal guide to carrier females2. Previous studies have shown no measurable genetic linkage of the DMD locus with any X-chromosome marker3,4. Therefore, if a cloned sequence of the X chromosome could be used to define the locus, and to provide a closely linked set of markers, it would be of considerable importance in the prediction and prevention of DMD, as well as a step towards identifying the basic biochemical defect causing the disease. We present here evidence of an X-chromosome sequence, defined by its restriction enzyme polymorphism, that is loosely linked to DMD, at a distance of approximately 10 centimorgans, as determined by studies on nine informative families. The polymorphism occurs in 29% of women in a control London population and in 22% of carriers for DMD. The linkage data support cytogenetic evidence that DMD is on the short arm of the X chromosome. The object of this letter is to encourage others to make use of our probe, which seems to be linked to the DMD locus. More... »

PAGES

69-71

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/300069a0

DOI

http://dx.doi.org/10.1038/300069a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034929435

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6982420


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