Abstract

Recent genetic linkage analyses have mapped the myotonic dystrophy locus to the region of 19q13.2–13.3 lying distal to the gene for creatine kinase subunit M (CKM). The human excision repair gene ERCC1 has also been mapped to this region of chromosome 19. A novel polymorphic DNA marker, pEO.8, has been isolated from a chromosome 19 ERCC1-containing cosmid that maps to a 300-kb NotI fragment encompassing both CKM and ERCC1. Genetic linkage analysis reveals close linkage between pEO.8 and myotonic dystrophy (DM) ( z max = 19.3, θ max = 0.01). Analysis of two key recombinant events suggests a mapping of DM distal to pEO.8 and CKM.

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