KISEP Original Articles Korean J Audiol 52:105-110, 2001 선천성고도난청에서 Connexin 26 의유전자변이의형태분석 이상흔 1 이정래 1 이지은 1 김태정 2 강봉석 2 Molecular Genetic Analysis of Connexin 26 in Congenital Profound Hearing Loss Sang Heun Lee, M.D. 1, Jung Rea Lee, M.D. 1, Ji Eun Lee, M.D. 1, Tae Jung Kim, M.S. 2, Bong Seok Kang, Ph.D. 2 B - - - - (5(2):105-110, 2001) Department of Otolaryngology, College of Medicine, Kyungpook National University, Taegu, Korea Medical Research Institute, Kyungpook National University Hospital, Taegu, Korea Korean J Audiol Volume 5 December, 2001
Connexin 26 의유전자변이 서론 - - - 재료및방법 대상 방법 Korean J Audiol Volume 5 December, 2001
이상흔외 - - - Korean J Audiol Volume 5 December, 2001 - 결 Table 1. Age distribution 과 Congenital deafness Normal subjects 9 years old 37 7 1019 years old 46 3 2029 years old 2 0 30 years old 7 0 total 92 10 Table 2. connexin 26 gene mutations/polymorphism in Korean congenital deafness Homozygote Heterozygote Total/allele % V27I 14 29 57/184 31 V37 1 0 2/184 1.1 E114G 10 4 24/184 13.0 235delC 4 1 9/184 4.9
Connexin 26 의유전자변이 Fig. 1. Sequencing chromatographs of connexin 26 gene mutations. Table 3. Connexin 26 gene polymorphism observed in normal korean subjects Homozygote Heterozygote Total/allele % V27I 4 3 11/20 55% E114G 2 3 7/20 35% 고 찰 - - Korean J Audiol Volume 5 December, 2001
이상흔외 - - - - - Korean J Audiol Volume 5 December, 2001
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