COCH基因与DFNA9相关性研究.pdf

∀ 170∀ 2007 2 28 2 , , , , , , LCCL , , , DFNA9 COCH [ 12~ 15] 4 DFNA9: DFNA9 COCH 1 , , , Coch lin [ 5, 16] COCH , II , DFNA9 DFNA9 [ 17] COCH 8 , 7 1 2001 L iep insh[7] COCH Coch lin COCH Cochlin [ 8] [ 18] ; 2003 Robertson G rabski COCH Coch lin , , COCH , Coch lin COCH C och lin , 1998 Robertson[ 6] 3 DFNA9 COCH Cochlin DFNA9 COCH 4 253T - G , Val- Gly ; 5 319 G - A , 5 G ly- G lu ; 5 405 [ 1] H u Y. The enetics study of COCH ene and nonsyndrom ic T - C , T rp- A r hearin mi pairm ent[ J]. Audio and Spee Patho, 2006, 14: 147. 1999 De Kok[ 19] 4 DFNA9 Pro [ 2] Fransen E, Van Cam p G. The COCH ene: a frequent cause Ser( P51S) DFNA9 , of hearin mi pairm ent and vestibular dysfunction? [ J] . Br J Au COCH d iol, 1999, 33( 5): 297. 4 208C - T , [ 3] Robertson NG, KhetarpalU, Gu tierrez- E speleta GA, et al. P5 1S Isolation of novel and known enes from a human fetal cochlear 2001 Fransen[ 12] DFNA9 cDNA library us in subtractive hybridization and d ifferen