GJB2. Downloaded from jssu.ssu.ac.ir at 16:32 IRDT on Friday March 22nd delG. Direct Sequencing DHPLC . V153I, V27I, E114G, R127H
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1 6-708 GJB * 0 Richard J.H. Smith :. GJB GJB 5delG. 0 0 : 5delG. ARMS-PCR 5delG Direct Sequencing DHPLC 67delT 5delG :. (). (%7/5) GJB :. V5I, V7I, EG, R7H.del del. GJB : 5delG. GJB del. 56/5 5delG GJB : * : - mehdimoghani@yahoo.com :
2 (0) GJB delG 5delG () Zelante. 7 %0 (). 0 (Carrier Frequency) ( ) % (5 ). (Founder Effect). (Single Nucleotide Polymorphisms) SNPs (5).. (. )... (6) / 000 ( ) ( ) 70. (5) / ( 6). 5 5 (7) DFNB GJB (6) GJB. %50. 5/5 GJB (8 ) Gap junction GJB. (6) (7). (6) GJB 0 5delG.( %70) 8
3 DNA (7) GJB GJB GJB ARMS-PCR 5delG. (Amplification Refractory Mutation System) 8.( ) 5delG PCR ARMS. Forward. Reverse. PCR PCR. DNA 5delG GJB. Denaturating High Performance ) DHPLC (Liquid Chromatography. GJB Elusion Profile DHPLC GJB (Sequencing). PCR :. GJB ) ( : ( (. (... DNA DNA. K Bio-photometer /5 ( ). 8
4 GJB. ( ) / 0 =/6 / 0 =/7 / 0 =0/8 / 0 =0/ GJB / 6 =5 / 6 =56/5 / 6 =/5 / 6 =6/5 5delG del del 67delT 5delG GJB del ( 56/5) GJB. ( 5) 5delG ( ) 7 ) 67delT (. del () GJB.. : GJB / 6 =68/7 / 6 =/5 / 6 =/5 / 6 =6/ GJB V5I R7H V7I EG GJB (8 0 ). (). (). %8 (...).. ( ) 60 : ( ) DNA - (8 ) GJB.. 0. GJB. % 7/5 ( ) 0 ( % 6/6 GJB ) 6. GJB ().. 8
5 7/5.() ) GJB 5delG ( (5). () GJB del. 5delG /0 ( ). GJB del 56/5 GJB. Denoyelle del 0delG (). GJB / 0/7 000 (). del. 5 5 CCTG () GJB.. del GAA (5). Slippage Replication GJB 5delG GJB 5delG GJB ( )( 0 / 0 =/0 7 / 5 =/0 / / 0 =/66 8 / 00 = / 0 =/ / 5 =8/8 6/5 6 / 0 =6/66 :../05./05./05./05 GJB /7 / 0/ /8 Z 5delG /0 / 0/7 0/6 5delG GJB Z (./05 ) (/6) Z (/6) Z Z (./05 ) ( ) /. GJB. GJB 8
6 . - GJB... References.. Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci ; 60:6.. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE,et al. Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet ; 6:86. Van camp G, Smith RJH, Non-syndromic hearing impairment: unparalled heterogeneity. Am J Hum Genet 7; 60: Nance WE. The genetics of deafness. Ment Ret Develop Dis 00; : Tekin M, Arons KS, Pandya A. Advances in hereditary deafness. Lancet 00; 58: (Hot Spot) (Hot spot) (Founder effect).. ( ) DNA. GJB / deafness 8. Goodenough DA, Goliger JA, Paul DL. Connexins, connexons, and intercellular communication. Annu Rev Biochem 6; 65: Kiang DT, Jin N, Tu ZJ, Lin HH. Upstream genomic sequence of the human connexin6 gene. Gene 7; : Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N,et al. Connexin6 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB) in Mediterraneans. Hum Mol Genet 7; 6: Kelley PM, Harris DJ,Comer BC, Askew JW, Fowler T, Smith SD, et al. Novel mutations in the connexin 6 gene (GJB) that cause autosomal recessive (DFNB) hearing loss. Am J Hum Genet 8; 6:
7 . Gasparini P, Rabionet R,Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen, et al. High carrier frequency of the 5delG deafness mutation in European populations. Genetic Analysis Consortium of GJB 5delG. Eur J Hum Genet 000; 8: -.. Estivill X, Fortina P,Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-6 mutations in sporadic and inherited sensorineural deafness. Lancet 8; 5: -8.. Van Laer L, Coucke P,R F Mueller b, G Caethoven a, K Flothmann a, S D Prasad c, et al. A common founder for the 5delG GJB gene mutation in connexin 6 hearing impairment. J Med Genet 00; 8: Rothrock CR, Murgia A,Sartorato EL; Leonardi E; Wei S; Lebeis SL et al. Connexin 6 5delG does not represent a mutational hotspot. Hum Genet 00; : Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M,Kahrizi K, et al. GJB mutations in Iranian with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mut 00; :57. : (Cx 6 GJß) 5delG.8 80 : - - 5delG. GJB (Cx 6 GJß).8 80 : (Cx 6 GJß) 5delG.8 8. : - -. (Cx 6 GJß) 5delG Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al. Clinical features of the prevalent form of childhood deafness, DFNB, due to a connexin-6 gene defect: implications for genetic counselling. Lancet ; 5: Rabionet R, Zelante L,Lopez-Bigas N, D'Agruma L, Melchionda S, Restagno G, et al. Molecular basis of childhood deafness resulting from mutations in the GJB (connexin 6) gene. Hum Genet 000; 06: 0-.. Krawczac M, Cooper M. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet ; 86: Tom Strachan, Human Molecular Genetics
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