Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean

J Korean Neurol Assoc > Volume 17(6); 1999 > Article

Journal of the Korean Neurological Association 1999;17(6): 848-852.

한국인에서 Charcot-Marie-Tooth 1A 질환의 분자유전학적 분석

김승민, 최병옥 선우일남 안용호*이진성**박보배***김대성****

연세대학교 의과대학 신경과학교실,생화학 분자 생물학교실*,소아과학교실**, 세포유전학 검사실***,부산대학교 의과대학 신경과학교실****

Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean

Seung-Min Kim, M.D., Byung-Ok Choi, M.D., Il-Nam Sunwoo, M.D., Yong-Ho Ahn, M.D.*, Jin-Sung Lee, M.D.**, Bo-Bae Park***, Dae-Seung Kim, M.D.****

Department of Neurology, Biochemistry & Molecular biology*, Pediatrics**, Clinical research center***, Yonsei University Medical College Department of Neurology, Pusan University Medical College****

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. M e t h o d s : 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. R e s u l t s : CMT1A duplication was found in 7 families (64%) of the patients with CMT1 by D17S122, but not by D17S261. C o n c l u s I o n s : 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. J Korean Neurol Assoc 17(6):848~852, 1999 Key Words : Charcot-Marie-Tooth disease, CMT1A, Duplication, D17S122, D17S261, Ethnic difference