A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene
Copyright policy )A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene
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.
- Takeda (Japan) Japan
- Shinshu University Japan
- National Defense Medical College Japan
- National Center of Neurology and Psychiatry Japan
- Shinshu University Japan
Male, Base Sequence, Restriction Mapping, DNA, Middle Aged, Protein Serine-Threonine Kinases, Myotonin-Protein Kinase, Pedigree, Trinucleotide Repeats, Humans, Myotonic Dystrophy, Female, Deoxyribonucleases, Type II Site-Specific, 3' Untranslated Regions, Protein Kinases, Polymorphism, Restriction Fragment Length
Male, Base Sequence, Restriction Mapping, DNA, Middle Aged, Protein Serine-Threonine Kinases, Myotonin-Protein Kinase, Pedigree, Trinucleotide Repeats, Humans, Myotonic Dystrophy, Female, Deoxyribonucleases, Type II Site-Specific, 3' Untranslated Regions, Protein Kinases, Polymorphism, Restriction Fragment Length
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