An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
作者： YH1 Fu , A Pizzuti , R1G1 Fenwick Jr , J King , S Rajnarayan
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摘要: Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found be unstable, with an increased number of repeats occurring DM patients. In case severe congenital DM, paternal allele inherited unaltered while maternal, DM-associated unstable. These studies suggest that mutational mechanism leading is amplification, similar fragile X syndrome. The sequence within gene (to referred as myotonin-protein kinase), which has protein kinases.
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