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  • Title: A novel Sac I RFLP in the 3' untranslated region of the myotonin protein kinase gene.
    Author: Nakamura A, Minami N, Kamitani T, Kamakura K, Arahata K, Takeda S.
    Journal: J Hum Genet; 1999; 44(2):135-7. PubMed ID: 10083743.
    Abstract:
    We found a novel Sac I polymorphism downstream of CTG repeats in the 3' untranslated region of the myotonin protein kinase (MT-PK) gene. A C to G transition at nucleotide 13,590 in the gene was revealed by Southern blotting and confirmed by sequencing analyses. The allelic frequency of the C:G polymorphism in 63 unrelated Japanese individuals was estimated to be 0.98:0.02. When Southern blotting is employed in the analysis of the CTG repeat length in the MT-PK gene, this Sac I polymorphism should be taken into consideration.
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