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

作者：Helen G. Harley, J. David Brook, Jo L. Floyd, Shelley A. Rundle, Steve Crow, K.V. Walsh, M. C. Thibault, P.S. Harper, Duncan J. Shaw · 发表于：PubMed · 年份：1991 · 被引用次数：92 · 研究领域：Genetic Neurodegenerative Diseases

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.