Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean
Journal of the Korean Neurological Association
;
: 848-852, 1999.
Artículo
en Coreano
| WPRIM
| ID: wpr-144403
ABSTRACT
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ADN
/
Atrofia Muscular
/
Enfermedad de Charcot-Marie-Tooth
/
Tamizaje Masivo
/
Reacción en Cadena de la Polimerasa
/
Enfermedades del Sistema Nervioso Periférico
/
Alelos
/
Biología Molecular
/
Conducción Nerviosa
Tipo de estudio:
Estudio de tamizaje
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
1999
Tipo del documento:
Artículo
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