A Family of Charcot-Marie-Tooth 1A Confirmed by Molecular Genetic Analysis
Journal of the Korean Neurological Association
; : 1023-1029, 1996.
Article
em Ko
| WPRIM
| ID: wpr-129362
Biblioteca responsável:
WPRO
ABSTRACT
Recently, thanks to the development of the molecular genetics which had made us understand the nature of some genetic disorders, the concept of the classification has changed. Charcoal-Marie-Tooth disease (CMT) is the most conspicuous disease. The disease is inherited as an autosomal dominant trait. CMT is classified into two major forms: demyelinating CMT type 1 and axonal CMT type 2. CMT type 1 loci are known to map to chromosome 17 (CMT IA), chromosome 1 (CMT IB), X chromosome (CMT IX), and unknown autosome (CMT IC). And CMT type 2 loci are divided into chromosome 1 (CMT 2A) and chromosome 3 (CMT 2B). The most prevalent form is CMT IA caused by a duplication in a region of chromosome 17p11.2-12. Peripheral myelin protein-22 (PMP-22) gene In that region is known to being responsible for the disease. In Korea, although several families of CMT were reported, there is no report on the subtype of CMT type 1 confirmed by genetic analysis. We report a family of CMT IA confirmed by molecular genetic analysis using D17s122 markers.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Axônios
/
Cromossomo X
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Cromossomos Humanos Par 1
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Cromossomos Humanos Par 3
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Cromossomos Humanos Par 17
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Classificação
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Coreia (Geográfico)
/
Biologia Molecular
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Bainha de Mielina
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
1996
Tipo de documento:
Article