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. 1991 Jul;49(1):68-75.

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

H G Harley  1 , J D Brook, J Floyd, S A Rundle, S Crow, K V Walsh, M C Thibault, P S Harper, D J Shaw
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Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

H G Harley et al. Am J Hum Genet. 1991 Jul.

Abstract

We have examined the linkage of two new polymorphic DNA markers (D19S62 and D19S63) and a previously unreported polymorphism with an existing DNA marker (ERCC1) to the myotonic dystrophy (DM) locus. In addition, we have used pulsed-field gel electrophoresis to obtain a fine-structure map of this region. The detection of linkage disequilibrium between DM and one of these markers (D19S63) is the first demonstration of this phenomenon in a heterogeneous DM population. The results suggest that at least 58% of DM patients in the British population, as well as those in a French-Canadian subpopulation, are descended from the same ancestral DM mutation. We discuss the implications of this finding in terms of strategies for cloning the DM gene, for a possible role in modification of risk for prenatal and presymptomatic testing, and we speculate on the origin and number of existing mutations which may result in a DM phenotype.

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