[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].
Copyright policy )[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].
A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination. A correlation between the most distinct clinical symptoms and CTG-repeat number has been studied. A CTG-repeat expansion in generations was compared to that in sib pairs with myotonic dystrophy. In 17.6% of the cases, CTG-repeat number decreased in the following generations and in 11.7% it did not change, the percentages being higher than those described elsewhere. In general, anticipation phenomenon was confirmed for CTG-repeat in myotonin proteinkinase gene.
Adult, Male, Adolescent, DNA Mutational Analysis, Gene Expression, Middle Aged, Protein Serine-Threonine Kinases, Bashkiria, Severity of Illness Index, Myotonin-Protein Kinase, Pedigree, Gene Frequency, Humans, Myotonic Dystrophy, Point Mutation, Female, Trinucleotide Repeat Expansion, Chromosomes, Human, Pair 19, Protein Kinases
Adult, Male, Adolescent, DNA Mutational Analysis, Gene Expression, Middle Aged, Protein Serine-Threonine Kinases, Bashkiria, Severity of Illness Index, Myotonin-Protein Kinase, Pedigree, Gene Frequency, Humans, Myotonic Dystrophy, Point Mutation, Female, Trinucleotide Repeat Expansion, Chromosomes, Human, Pair 19, Protein Kinases
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