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KMID : 0352519960330020189
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Korea Univercity Medical Journal
1996 Volume.33 No. 2 p.189 ~ p.194
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The Clinical Significance of Polymerase Chain Reaction in Diagnosis of Myotonia Dystrophy
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Abstract
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Myotonia dystrophy is an autosomal dominant, multisystemic disorder characterized by myotonia and progressive muscle weakness. The gene for myotonia dystrophy is linked to the long arm of chromosome 19. Myotonia dystrophy is caused by an unstable CTG repeat sequence in the 3´ untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas myotonia dystrophy patients have CTG expansions of 50 to several thousand repeats. We studied the expansion of CTG repeats within the myotonin kinase gene of patients in two Korean families who were clinically suspected to myotonic dystrophy by polymerase chain reaction method (PCR) . We examined four patients affected by myotonia dystrophy in two family. Diagnosis of myotonia dystrophy was based on clinical symptoms. Genomic DNA was extracted from leukocytes in peripheral blood and polymerase chain reaction was done. The patients with myotonia dystrophy showed only one polymerase chain reaction allele within the normal range, while the normal control showed two polymerase chain reaction allele within the normal range. The amplified myotonia dystrophy allele was not observed because of high number of CTG repeats. But we are able to screen the patients who are clinically suspected to myotonia dystrophy patients with the polymerase chain reaction method.
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KEYWORD
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