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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Received: 15 October, 1998 / Accepted: 31 October, 1998
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Nakamura, A., Minami, N., Kamitani, T. et al. A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene. J Hum Genet 44, 135–137 (1999). https://doi.org/10.1007/s100380050128
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DOI: https://doi.org/10.1007/s100380050128