J Korean Neurol Assoc.
1999 Nov;17(6):848-852.
Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean
- Affiliations
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- 1Department of Neurology, Yonsei University Medical College.
- 2Department of Biochemistry & Molecular biology, Yonsei University Medical College.
- 3Department of Pediatrics, Yonsei University Medical College.
- 4Clinical research center, Yonsei University Medical College.
- 5Department of Neurology, Pusan University Medical College.
Abstract
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BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant inherited demyelinating peripheral neuropathy characterized by progressive distal muscular atrophy and marked slowing of nerve conduction velocities. A 1.5 Mb DNA duplication within chromosome 17p11.2-p12 has been reported. This disease appears to be caused by an altered copy number of the PMP-22 gene within the critical region.
METHODS
DNA analysis was carried out for 158 persons from 40 unrelated families. PCR was done by D17S122 and D17S261. The DNA of the patients was ana-lyzed to detect three alleles for the presence of duplication.
RESULTS
CMT1A duplication was found in 7 families (64%) of the patients with CMT1 by D17S122, but not by D17S261.
CONCLUSIONS
We have found seven families of Charcot-Marie-Tooth disease type 1A with chromosome 17p11.2-p12 duplication by D17S122. We recommend the screening test by D17S122 for the detection of CMT1A in Korean because genetic analysis done by D17S261 was not informative.
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