Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

McCabe, E. R., Towbin, J., Chamberlain, J., Baumbach, L., Witkowski, J., van Ommen, G. J., Koenig, M., Kunkel, L. M., Seltzer, W. K. (January 1989) Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Journal of Clinical Investigation, 83 (1). pp. 95-9. ISSN 0021-9738 (Print)0021-9738

URL: http://www.ncbi.nlm.nih.gov/pubmed/2536049
DOI: 10.1172/jci113890

Abstract

Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus. Genomic probes had not detected a deletion in this patient. Southern analysis of Hind III-digested genomic DNA from this patient identified a deletion when the three distal Hinc II DMD cDNA fragments were used as probes. The deletion began in the genomic region corresponding to the 1.05-kb Hinc II cDNA fragment and extended through the 3' end of the DMD gene. This represents a centromeric breakpoint that corresponds to a position approximately 10.2-10.6 kb from the 5' end of the 14-kb DMD cDNA. These investigations demonstrate the value of the DMD cDNA probes for improved diagnoses in patients with molecular lesions involving the DMD locus. Furthermore, this novel deletion involving the coding portion of the 3' end of the DMD gene assists in the ordering of exons in this region and will provide insight into the functional role of the carboxy terminus of the DMD gene product, dystrophin.

Item Type: Paper
Uncontrolled Keywords: Adrenal Insufficiency/*genetics Blotting, Southern *Chromosome Deletion Chromosome Mapping DNA/*analysis *DNA Probes Glycerol Kinase/*deficiency Humans Muscular Dystrophies/complications/enzymology/*genetics Phosphotransferases/*deficiency Syndrome
Subjects: Investigative techniques and equipment > probes > DNA probes
diseases & disorders > congenital hereditary genetic diseases > muscular dystrophy
CSHL Authors:
Communities: Banbury Center
Depositing User: Matt Covey
Date: January 1989
Date Deposited: 26 Nov 2014 17:56
Last Modified: 26 Nov 2014 17:56
PMCID: PMC303648
Related URLs:
URI: http://repository.cshl.edu/id/eprint/30421

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