분자유전학 검사로 확진된 Charcot-Marie-Tooth 1A

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.