A new probe for the diagnosis of myotonic muscular dystrophy

R. J. Bartlett, M. A. Pericak-Vance, L. Yamaoka, J. Gilbert, M. Herbstreith, W. Y. Hung, J. E. Lee, T. Mohandas, G. Bruns, C. Laberge, M. C. Thibault, D. Ross, A. D. Roses

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.

Original languageEnglish (US)
Pages (from-to)1648-1650
Number of pages3
JournalScience
Volume235
Issue number4796
DOIs
StatePublished - 1987

ASJC Scopus subject areas

  • General

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