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

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

KISEP Reviews Korean J Audiol 6(1):9-13, 2002 TEOAE 를이용한신생아청각선별검사의의의 문성균 1 박홍준 2 박기현 1 Significance of Newborn Hearing Screening Program Using TEOAE S


hwp


Lumbar spine

A 617

<30372EC0CCC0AFC1F82E687770>

KISEP Information Korean J Otolaryngol 2003;46: 유전성난청의이해와평가 서울대학교의과대학이비인후과학교실 오승하 Understanding and Assessment of Hereditary Hearing Impairment

untitled

< D B4D9C3CAC1A120BCD2C7C1C6AEC4DCC5C3C6AEB7BBC1EEC0C720B3EBBEC8C0C720BDC3B7C2BAB8C1A4BFA120B4EBC7D120C0AFBFEBBCBA20C6F2B0A E687770>

012임수진

달생산이 초산모 분만시간에 미치는 영향 Ⅰ. 서 론 Ⅱ. 연구대상 및 방법 達 은 23) 의 丹 溪 에 최초로 기 재된 처방으로, 에 복용하면 한 다하여 난산의 예방과 및, 등에 널리 활용되어 왔다. 達 은 이 毒 하고 는 甘 苦 하여 氣, 氣 寬,, 結 의 효능이 있

충북의대학술지 Chungbuk Med. J. Vol. 27. No. 1. 1~ Charcot-Marie-Tooth Disease 환자의마취 : 증례보고 신일동 1, 이진희 1, 박상희 1,2 * 책임저자 : 박상희, 충북청주시서원구충대로 1 번지, 충북대학교

139~144 ¿À°ø¾àħ

Can032.hwp

< B0B3C0CEC1A4BAB8BAD0C0EFC1B6C1A4BBE7B7CAC1FD2E687770>

세계 비지니스 정보

<C1A63534C8B820BCBCB9CCB3AA2DC6EDC1FD2E687770>

Table 1. Distribution by site and stage of laryngeal cancer Supraglottic Glottic Transglottic Total Stage Total 20

untitled

03-ÀÌÁ¦Çö

03-서연옥.hwp

노인정신의학회보14-1호

석사논문.PDF

2009 대수능 한국근현대사 해설.hwp

패션 전문가 293명 대상 앙케트+전문기자단 선정 Fashionbiz CEO Managing Director Creative Director Independent Designer

177


노영남

<35335FBCDBC7D1C1A42DB8E2B8AEBDBAC5CDC0C720C0FCB1E2C0FB20C6AFBCBA20BAD0BCAE2E687770>

16(1)-3(국문)(p.40-45).fm

59

이 매뉴얼은 국립서울병원 문 의 표준지침 및 매뉴얼 개발 학술연구사업의 일환으로 연세대학교 심리학과에서 작되었으며, 저작권은 국립서울병원에 있습니다.

서론 34 2

433대지05박창용


프로그램 목차 들어가는 말 9 문전성시 문화시장 프로그램 99선 지역 공동체 10 시장 공동체 44 내발적 문화 74 예술의 역할 106 지역활성화 축제 150 여행지로 변신 182 문화중심 216 문화복지 258 문화예술학교 296 새로운 시장 개척 332 마치는 말

<C7D1B1B9B1B3C0B0B0B3B9DFBFF85FC7D1B1B9B1B3C0B05F3430B1C733C8A35FC5EBC7D5BABB28C3D6C1BE292DC7A5C1F6C6F7C7D42E687770>

Çмú´ëȸ¿Ï¼º

2012³â8¿ùÈ£˙ȸš

00표지

Kbcs002.hwp

4임금연구겨울-지상토론

자기공명영상장치(MRI) 자장세기에 따른 MRI 품질관리 영상검사의 개별항목점수 실태조사 A B Fig. 1. High-contrast spatial resolution in phantom test. A. Slice 1 with three sets of hole arr

1차내지

°ø±â¾Ð±â±â

untitled

2.대상 및 범위(계속) 하천 하천 등급 하천명 연장 (km) 연장 (km) 시점 금회수립현황 종점 지방 하천 함안천 경남 함안군 여항면 내곡리 경남 함안군 함안면 함안천(국가)기점 검단천 경남 함안군 칠북면 검단리 칠원천 6.70


<B3BBC1F65FC7D1C0CFC7F9C1A4C0DAB7E1C1FD5F D E687770>

03이경미(237~248)ok

Yonsei_436

2 佛敎學報 第 48 輯 서도 이 목적을 준수하였다. 즉 석문의범 에는 승가의 일상의례 보다는 각종의 재 의식에 역점을 두었다. 재의식은 승가와 재가가 함께 호흡하는 공동의 場이므로 포 교와 대중화에 무엇보다 중요한 역할을 수행할 수 있다는 믿음을 지니고 있었다. 둘째

7 1 ( 12 ) ( 1912 ) 4. 3) ( ) 1 3 1, ) ( ), ( ),. 5) ( ) ). ( ). 6). ( ). ( ).

DBPIA-NURIMEDIA

?덉씠?꾩썐 1

?덉씠?꾩썐 1

?덉씠?꾩썐 1

KARAAUTO_4¿ù.qxd-ÀÌÆå.ps, page Normalize

7.ƯÁýb71ÎÀ¯È« š

(11+12.).pdf

<392D313128BFF92920C1B6B0A320BAB8B5B5C0DAB7E128C0C7C4A1C0C7C7D0BAB9C7D5C7D0C0A7B0FAC1A4C3DFC1F8B0E8C8B9292E687770>



<BACFC7D1B3F3BEF7B5BFC7E22D3133B1C733C8A BFEB2E687770>

12¿ù 1~30

»ê¾÷¿¬±¸¿øÇ¥Áö


Sheu HM, et al., British J Dermatol 1997; 136: Kao JS, et al., J Invest Dermatol 2003; 120:

Crt114( ).hwp

: 4 2. : (KSVD) 4 3. :

09-감마선(dh)

<B0FBBDC2C1F85FB0ADC1F6C7FD2E687770>

jaeryomading review.pdf


KIM Sook Young : Lee Jungsook, a Korean Independence Activist and a Nurse during the 이며 나름 의식이 깨어있던 지식인들이라 할 수 있을 것이다. 교육을 받은 간 호부들은 환자를 돌보는 그들의 직업적 소

, Next Step of Hangul font As an Example of San Serif Han San Seok Geum ho, Jang Sooyoung. IT.. Noto Sans(Adobe, Han-San). IT...., Muti Script, Multi

72 순천향의과학 : 제14권 2호 2008 Fig.1. Key components of the rehabilitation evaluation of patients with the rheumatic diseases. The ICF provides a good frame


388 The Korean Journal of Hepatology : Vol. 6. No COMMENT 1. (dysplastic nodule) (adenomatous hyperplasia, AH), (macroregenerative nodule, MR

untitled

歯kjmh2004v13n1.PDF


untitled

인문사회과학기술융합학회

이형석외

대한한의학원전학회지24권6호-전체최종.hwp

*LAC-1211

Topics

1

Analyses the Contents of Points per a Game and the Difference among Weight Categories after the Revision of Greco-Roman Style Wrestling Rules Han-bong

(

Kinematic analysis of success strategy of YANG Hak Seon technique Joo-Ho Song 1, Jong-Hoon Park 2, & Jin-Sun Kim 3 * 1 Korea Institute of Sport Scienc

ºÎÁ¤¸ÆV10N³»Áö

<C6EDC1FD2D32382D34C8A32DBEC8C0CCBAF1C0CEC8C4B0FAC7D0C8B8C1F62E687770>

한국성인에서초기황반변성질환과 연관된위험요인연구


Analysis of objective and error source of ski technical championship Jin Su Seok 1, Seoung ki Kang 1 *, Jae Hyung Lee 1, & Won Il Son 2 1 yong in Univ

Transcription:

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

Connexin 26 의유전자변이 결 중심단어 참고문헌 1) Morton ME. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 199163016-31. 2) Gravel JS, Tocci LL. Setting the stage for universal newborn hearing screening. In universal newborn hearing screening. Spivak L. Thieme 199818-44. 3) Sininger YS, Doyle KJ, Moore JK. The case for early identification of hearing loss in children. Pediatr Clin North Am 1999461-13. 4) Roizen NJ. Etiology of hearing loss in children. Pediatr Clin North Am 19994649-64. 5) van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment unparalleled heterogeneity. Am J Hum Genet 199760758-64. 6) 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 199862792-9. 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 1998351394-8. 8) 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 199762173-7. 9) 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 1988 80337-40. 11) 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 19883 299-301. 12) 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 1992895181-4. 13) 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 199761605-9. 14) Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang LN, Parry G, et al. Connexin 26 mustions in hereditary nonsyndromic sensorineural deafness. Nature 199738780-3. 15) Lefebvre PP, Water TR. Connexins, hearing and deafness clinical aspects of mutations in the connexin 26 gene. Brain Res Rev 200032159-62. 16) Morell RJ, Kim HJ, Hood LJ. Mutation in the connexin 26 gene GJB2 among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 19983391500-5. 17) 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 19981387-94. 18) Park HJ, Park KH, Song JW, Choung YH, Choi HS. Molecular genetic analysis of connexin 26 in Korean congenital hearing loss. Korean J Otolaryngol 200043357-62. 19) Choung YH, Ryu SJ, Lee JH, Park HJ. Functional study of gap junction in GJB2 mutations associated with hereditary hearing loss. Korean J Otolaryngol 200144239-45. 20) Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T. Three connexin 26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 1999101853-7. 21) Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene GJB2 mutations in Japanese. J Med Genet 20003741-3. Korean J Audiol Volume 5 December, 2001