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  • Title: Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
    Author: Harley HG, Brook JD, Floyd J, Rundle SA, Crow S, Walsh KV, Thibault MC, Harper PS, Shaw DJ.
    Journal: Am J Hum Genet; 1991 Jul; 49(1):68-75. PubMed ID: 2063878.
    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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