1. , ..., , .

2. 3. ? () ( ) 4. 1/7000 1/2500 1/1000 80-85% 15-20% 80-90% 5. ? 1 650 , ~ 1 2000 ( ) 50% 18-30% 70-80% - 2% 60 ( .. ) 5-10% 30-40% 6. 1500 . ( ) ( 5 ) 4/6 (,, , ) , 7. GJB2 (Cx26), 50% 26GJB6 (Cx30), 5%30MYO15, 155%SLC26A4, 5%TMC1,5%/CDH23, 23 5%STRC, 5% OTOF, 3%12SrRNA, - 3% 8. , 2009(Q.-J. Wang et al.) - 14,913 (12 )I +/+ 12,837 (86.1%) 85.5-86.6 -/- 908 (6.1%) -/+1168 (7.8%)II +/+ 14,101 -/- 449 (3.0%) 94.2-94.9 -/+ 363 (2.4%)GJB2 6 (0.41) GJB2 159 (10.66) SLC26A4 2 (0.14) SLC26A4 121 (8) 9. ( 1995 2009)6050403020100 95 96 97 98 99 0 1 2 3 4 5 6 7 8 9 10. 18 30 23 - 7 + 11. : 26, 30, 43 , 7A, 23 14 - , . SLC26A4 (- ) OTOF () - . - - COCH (cochlea ) ( 16-20 ) . POU3F4 TECTA (-) - 12. (, , - , , TRIOBP) ( , ), () (, ,, -) 13. (GJB2, .) (, , , ,, . ) ( L- D-LTCC, 2b2 . 14. 15. 16. : 64 20AGAAGGGCA CGAGGAGCG CGGGGGATAGCT CGT GAT AATTGT GAA CAA GGTCAT ATTGCC CGC GAC AACTGC GAG CAG GGCCAC ATCAla (A) Arg (R) Asp (D) Asn (N)Gys (C) Glu (E) Gln (Q) GlyHis Ile (I) -(G)(H) -- - --TTAACTTTGAGCCTACCA TCA ACAGTACTGCCG TCG ACGGTG TAACTT AAA TTTCCT TCT ACT TATGTT TAGCTC AAG ATG TTCCCC TCC ACC TACGTC TGALeu (L) Lys (K) Met (M) Phe (F)Pro (P) Ser (S) Thr (T) TrpVal Stop -- (W)(V) - - 17. 1 . , 2-4 . . 18. GJB2- / 75% 20% 5% ( - OA ) ( 4-5 ) () , ( 70%, 47% , 20% ) 19. 26 (GJB2)0 125 250 500 1000 2000 4000 80000125 250 500 1000 2000 4000 80000125 250 500 1000 2000 4000 8000 101010 202020 303030 404040 505050 606060 707070 808080 909090100 100 100110 110 110 2R, 2 (10.),8R, 2 ( 25R, 10 (2 35delG/35delG )) 125 250 500 1000 2000 4000 8000 35delG/35delG 125 250 500 1000 2000 4000 800035delG/35delG125 250 500 1000 2000 4000 8000 0 001010 1020 2020 303030 404040 505050 606060 70 807070 9080801009090110 100 100 110 110 3R2, 44 (1,5 143R, 23 (5 ) 133R, 21 (2 ),), 35delG/35delG 35delG/35delG35delG/35delG 20. 26 (GJB2)1252505001000 2000 4000 8000 125 250 500 1000 2000 4000 80001252505001000 2000 4000 8000 0 0 0101010202020303030404040505050606060707070808080909090 100 100 100 110 110 110 127R1, 19 (1 ),428R, 3 (2,537R1, 9 (5 35delG/235delC ), 35delG/310del14 ), 35delG/N* 1252505001000 2000 4000 8000125 250 500 1000 2000 4000 8000 1252505001000 2000 4000 8000000 10 10 10 20 2030 20 3040 30 4050 40 50 60 50 60 70 60 70 8090 70 80 100 80 90110 9010010011011010R1, 9 (4 123R1, 8 (4123R3, 36 (6 ),), M34T/V27I ), 35delG/N*35delG/N* 21. 3 22. - 23. 24. - . 44% 35delG21% 1%30% 42% 4% 13%1% 14% 11% 19% 25. GJB2 ( ~ 4 .) (~ 50% IV , GJB2, 7 - 18 . . 26. 261) , 2) 3) 27. , ? ? ?? ?35delG/N? ? .. ?? ??N/N35delG/35delG NB! 28. - . 566869 35 25 32 35delG/35delG N/N ? 29. - . 48 I35delG/N2524 II 35delG/N35delG/ 312del14 51 III35delG/N 35delG/312del14NB! - . 30. - - . , , , . . 31. - () - - : - - - 32. - ( , ) 33. , 10-12 . . , 34. ! , -. , . .