Connexin 26 의유전자변이 서론 재료및방법 대상 방법 Korean J Audiol Volume 5 December, 2001

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1 KISEP Original Articles Korean J Audiol 52: , 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): , 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

2 Connexin 26 의유전자변이 서론 재료및방법 대상 방법 Korean J Audiol Volume 5 December, 2001

3 이상흔외 Korean J Audiol Volume 5 December, 결 Table 1. Age distribution 과 Congenital deafness Normal subjects 9 years old years old years old years old 7 0 total Table 2. connexin 26 gene mutations/polymorphism in Korean congenital deafness Homozygote Heterozygote Total/allele % V27I / V / E114G / delC 4 1 9/

4 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 /20 55% E114G 2 3 7/20 35% 고 찰 - - Korean J Audiol Volume 5 December, 2001

5 이상흔외 Korean J Audiol Volume 5 December, 2001

6 Connexin 26 의유전자변이 결 중심단어 참고문헌 1) Morton ME. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci ) Gravel JS, Tocci LL. Setting the stage for universal newborn hearing screening. In universal newborn hearing screening. Spivak L. Thieme ) Sininger YS, Doyle KJ, Moore JK. The case for early identification of hearing loss in children. Pediatr Clin North Am ) Roizen NJ. Etiology of hearing loss in children. Pediatr Clin North Am ) van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment unparalleled heterogeneity. Am J Hum Genet ) Kelly PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, et al. Novel mutations in the connexin 26 gene GJB2 that cause autusomal recessive DFNB1 hearing loss. Am J Hum Genet 론 7) Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D Agruma L, et al. Connexin 26 mutations in sporadic and inheritied sensorineural deafness. Lancet ) Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet ) Online mendelian inheritance in man Center for medical genetics, Johns Hopkins university and national center for biotechnology information, national library of medicine. URLhttp//www3.ncbi.nlm,nih.gov/omin. 10) Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B et al. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery DFN3 is linked to PGK. Hum Genet ) Wallis C, Ballo R, Wallis G, Geighton P, Goldglatt J. X- linked mixed deafness with stapes fixation in a Mauritian kindred linkage to Xq probe pdp34. Genomics ) Leon PE, Raventos H, Lynch E, Morrow J, King MC. The gene for an inherited form of deafness maps to chromosome 5q31. Proc Nati Acad Sci U S A ) Zelanet L, Gasparini P, Estivill X, Melchionda S, D Argruma L, Goved N, et al. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autusomal recessive deafness DFNB1 in the Mediterraneans. Hum Mol Genet ) Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang LN, Parry G, et al. Connexin 26 mustions in hereditary nonsyndromic sensorineural deafness. Nature ) Lefebvre PP, Water TR. Connexins, hearing and deafness clinical aspects of mutations in the connexin 26 gene. Brain Res Rev ) Morell RJ, Kim HJ, Hood LJ. Mutation in the connexin 26 gene GJB2 among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med ) Scott DA, Kraft ML, CArmi R, Ramesh A, Elbedour K, Yairi Y, et al. Identification of mutation in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mut ) Park HJ, Park KH, Song JW, Choung YH, Choi HS. Molecular genetic analysis of connexin 26 in Korean congenital hearing loss. Korean J Otolaryngol ) Choung YH, Ryu SJ, Lee JH, Park HJ. Functional study of gap junction in GJB2 mutations associated with hereditary hearing loss. Korean J Otolaryngol ) Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T. Three connexin 26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport ) Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene GJB2 mutations in Japanese. J Med Genet Korean J Audiol Volume 5 December, 2001

KISEP Otology Korean J Otolaryngol 2001;44: 유전성난청과동반된 GJB2 유전자변이의세포간극에대한기능적연구 정연훈 유상준 이준호 박홍준 Functional Study of Gap Junction in GJB2 Mutations

KISEP Otology Korean J Otolaryngol 2001;44:239-45 유전성난청과동반된 GJB2 유전자변이의세포간극에대한기능적연구 정연훈 유상준 이준호 박홍준 Functional Study of Gap Junction in GJB2 Mutations Associated with Hereditary Hearing Loss Yun Hoon Choung,