Article
Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.
Human genetics - 1 Feb 1996
Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T
Abstract excerpt
We have studied linkage disequilibrium between CTG repeats and an Alu insertion/deletion polymorphism at the myotonin protein kinase gene (DMPK) in 102 Japanese families, of which 93 were affected with myotonic dystrophy (DM). All of the affected chromosomes are in complete linkage disequilibrium...
Topics
- Asian People
- Europe
- Humans
- Japan
- Linkage Disequilibrium
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Polymorphism, Genetic
- Protein Kinases
- Protein Serine-Threonine Kinases
- Repetitive Sequences, Nucleic Acid
- Sequence Deletion
- Trinucleotide Repeats