Science · 1984 · 130 citations · 20 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsRecombinant Dna TechnologyGenetic DisordersHuntington DiseaseMendelian Neurological DisordersMolecular MarkersMolecular NeurogeneticsNeurogenetic DisordersCongenital Nervous System Disorders
Recombinant DNA technology has provided a vast new source of DNA markers displaying heritable sequence variation in humans. These markers can be used in family studies to identify the chromosomal location of defective genes causing nervous system disorders. The discovery of a DNA marker linked to Huntington's disease has opened new avenues of research into this disorder and may ultimately permit cloning and characterization of the defective gene.
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Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
David Botstein, R. White, Mark H. Skolnick et al. · PubMed · 1980 · 8.4K citations
A polymorphic DNA marker genetically linked to Huntington's disease
James F. Gusella, Nancy S. Wexler, P. Michael Conneally et al. · Nature · 1983 · 2.3K citations