ｨｪｨｦ0000ｨ 04ｨｨｬｨｹ01ｨｬｨｪｨｦｹｷｹｦｦ , 07

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1 ｨｪｨ 0102, 2008, , 6ｧ8 10, ｨC1314 ｨｬ :599.9 ｨｦ03ｨｨｦｨｺｨｨｪ00ｨｦｨｺ00ｨｪｨｨｮ000501ｨ 00 05ｨｪ02ｨｪｨｲｨｨｪｨｦ0000ｨ 04ｨｨｬｨｹ01ｨｬｨｪｨｦｨｨ. ｨｨ04090ｸ8apple , 04. ｨｺ. 026ｦｦｦ0040ｹｦｷｨｪｦ0040ｹｷ apple6ｦ apple fl ｨｺｦ0016ｦｷｦ00401, ｨｪ ; valery.puzyrev@medgenetics.ru 2 ｨｹｦ0040ｹ0000ｸ806 0ｷ apple apple fl ｨｺｦ0016ｦｷｦ00401, ｨｹｨｨｦ0 6 5 apple00 6ｦ0010ｷ3090ｸｦｦｦ0006ｦｦｹｹｦ apple040ｸ90ｸｦｦｨｺｦ0036ｦ0 (ｨｹ fl) ｸ86 56ｦ fl 6 50ｸ apple03 086ｦ , 006ｦｦ000000ｸ803 ｰfl ｱ 006ｦｸ fl0309, ｸ90ｸｸｸ9 apple6ｦ00608apple070603apple6ｦ fl apple6ｦ apple076 50ｸｦ0apple ｦ : ｷ300apple flapple006ｦ0fl 6ｦ0036ｦ fl I ｦ0, ｹｦ0fl apple070209fl, ｦ0apple ｦｦ0fl 030ｸ804000ｹ0006ｦ0fl apple070209fl, 006ｦｦ0fl 0ｹｹｦ0fl fl apple0703. ｨｨapple fl0306fl 6ｦ000000ｸ flapple apple09apple ｦ00ｷｦ003 fl ｦｸ fl0ｷｹｦ0, ｸ90ｸｦ00ｹｨB ｦｹ fl fl0ｷ3090ｸ9 016ｦｦ fl ｸ9, ｸ9 0ｹ06ｦｦ fl, apple090ｹｸ906fl 006ｦ0 0708apple appleapple090307apple ｦ apple fl- 0ｸ7040ｸ906fl apple6ｦ000090ｷ36ｦｦ0apple006ｦ0026ｦ0 [1], 06040ｸｦｦ00ｸｹｦ0-0009fl 006ｦ fl ｦ XXI 6 5. ｨC apple6ｦ apple ｦｹｦ0 ｨC ｷ , 016ｦｦｦｸ , 0807fl fl apple6ｦ003 02fl ｦ00009fl ｨC , , 016ｦｦ0apple ｨC 0600apple 0ｷｸ8, 6ｦ apple07086ｦｨC 0000apple6 5006ｦ0fl ｦ0 [2]. ｨｪ6ｦ001, flapple006ｦ0fl ｦｦ0026ｦ apple , 006ｦ apple ｸ90ｸ76ｦ0fl 096ｦ apple fl0ｷｸ803 08apple070ｷｦ0apple ｦｸ86 56ｦ00ｸ90ｸ76ｦ0fl flapple00040ｸ9 0603apple apple , ｦ06 502fl0ｸ90ｸｸ8 0ｹｹ fl0ｷｹｸｹｦ0. ｨｦ03000ｹｸｦ00009fl ｦｹｹｦｸ (0403), 0703fl6 7070ｸ (6 7apple04096ｦ0) 006ｦｦ apple6ｦｹ0000ｸ803 0ｹｹ fl0ｷ apple6ｦ0000ｸｸｸ apple090ｸ apple ｹｦｦｦ0040ｹｦ008apple6ｦ fl 0ｸ apple ｦｨｨｹｸｨｪｸ803-ｨｺ , , 0ｹ apple6ｦｸｦ00ｷ30906, 08apple fl0ｸｦｦｸ apple ｸ803 0ｹｦ003, apple6ｦｹｹｦ apple076 5, 03apple6ｦ0 090ｷｸｦ , apple0008apple fl, 6ｦｦ00009fl 6 5 0ｹｦ008apple6ｦｸ86 7apple6ｦｦｸ9 apple apple0ｸｸ803 6ｦ [3] apple00 05.ｨｨ. ｨｴ02apple (1970), ｦ0fl 08apple apple , 6 50ｸ806016ｦ0096ｦ002 08apple ｦ fl 016ｦ apple6ｦ002090ｹｸｦ [4]. ｨｨ00apple6 56ｦ0fl ｹｦ0fl ｦ00ｷ309fl 04.ｨｨｹｦｦ (1971) apple0ｸ8026ｦ0 apple6ｦｸｦ003090ｹｹｸ apple076 56ｦ000000ｸ apple ｦ fl ｨｺ [5] ｹｦ0040ｹ0000ｸ806 0ｷ apple ｨｺ apple6ｦ apple076ｦ0006ｦ apple076 56ｦ002 6ｦ000000ｸ apple apple apple6ｦ009000ｸ803 0ｹｹ apple ｦ fl 05apple apple ｹ06ｦｨｺ [6ｨC8]. ｨｨ6ｦ0apple6ｦｦｦ0030ｸｦ00300apple096ｦ002 (050401, 01apple , fl03006ｦ0 01apple ), apple0ｸ fl 6ｦ0006ｦ apple fl ｦｸｹｦ00009fl apple09 006ｦ00ｹ06ｦ0030ｸｦ003 [9] 09 08apple ｦ00ｸ90306fl fl 006ｦ0 0300appleapple090307apple0909 ｨｪｦ (apple ｦ0036ｦ0apple ｦ ), ｨｪ0ｸ86 50ｸ8, 0304applefl030909, 0707apple ｦ0fl, 076ｦ0016ｦ , ｨｹ [10ｨC13] ｹｦｦ fl ｨｹｨC 066ｦ apple apple ｹ fl. ｨｦｦ0096ｦｦ apple036ｦｸｦ00009fl ｦ0006ｦｦ0, ｸ90ｹ06ｦ00ｸ90ｸ flapple ｹｹｸ8fl ｸｨｴｦｹ apple apple076 56ｦ000000ｸｦ0 6ｦ00ｹｦ00009fl apple07-000ｸ8 046ｦ00ｷｦｷ apple6ｦｷ309000ｸ apple6ｦ06 56ｦ0 ｨｺｦ0036ｦ0 (ｨｹ fl) 09 ｨｹｦ0040ｹｷ apple6ｦ0 05ｨｦｨｺ020204, 6ｦ0 036ｦｨB ｹ000000ｸ apple ｦ0040ｹ0000ｸｹ0apple ｨｺ [13ｨC16] ｦ0apple ｸｦ00309 [17, 18] ｦ fl0ｸｦ00ｷ30909 ｨC 08apple ｦｸｹｦ00009fl03 ｨｹ apple ｦ0066ｦ00ｸ90ｸ fl ｹ flapple ｹｦ00009fl ｨｨｨｺｨｦ0500ｨｺ0004ｨｦ 01ｨｦｨｺｨｺ0001ｨｪｨｦｨｺｨｦｦ00300apple096ｦ apple6ｦｦｦｦ

2 ｨｪｨｦ0000ｨ 04ｨｨｬｨｹ01ｨｬｨｪｨｦｹｷｹｦｦ , ｦ00ｹｸｦｦ001 ｰfl ｱｨｴｨｪ04ｨｦ05ｨｨ0009ｨ 06ｨｨｮ000501ｨｦ00 ｨｺ02ｨ 04ｨｦｨｦ03ｨｺ02ｨｨｨｪｨｦ0000ｨｨｨｨｦｨｨｨｬ00ｨｹ09ｨｨｹ07 ｨｮ0000ｨｦｨｨapple ｦ0 0ｹｹ apple6ｦ00608apple070603apple6ｦ fl ( apple000ｹ06ｦ ) apple ｦ0apple ｦｦｸ90ｸ apple090ｸ apple ｦ00ｹ06ｦｰ fl0309 ｱｦ00206fl ｰ6 7apple0409 ｱ 0403, 0703fl6 7070ｸｸ fl0ｷｹ009036ｦ fl, 0ｹｦｦ0096ｦｸｹｦｦ00009fl0309 fl6 502fl0ｸ90306fl apple apple6ｦｸ8, 006ｦ00ｹ06ｦ0030ｸｸ8 08apple fl 09 08apple ｦ00ｸ90ｸ fl apple apple09036ｦ (016ｦ0006ｦ0 6ｦ0) apple ｨ apple026ｦ [19, 20]. ｨ fl apple6ｦ009000ｸｸ8 ( apple ｨC apple000ｸ apple6ｦ apple036ｦ00ｷ apple6ｦｸ90ｸ apple6ｦ00ｹ00006, ｷｹ0apple ｷ3096ｦｸ709, 006ｦ008apple090300apple, 040ｹｸ86 56ｦ00ｸ90ｸｷｦｸｦ ; 6 5 apple ｨC 6ｦ000000ｸ800 apple apple6ｦ fl0009fl 09 07apple fl 006ｦ fl), 0ｹｦ00009fl ｹ apple6ｦｸｷｹ06ｦ apple090300apple090ｸ9 036ｦ0- apple6ｦ apple6ｦｦｦ00009fl (6ｦｦｸ800, 6ｦ apple000ｷｸｷｸ800). ｨｦ 0907apple 036ｦ apple6ｦ apple6 76ｦｦ000000ｸｸｸｦ (096ｦ0apple ｸｸ803) 08apple ｦ apple0703 [7]. 05apple fl0ｷ30909, apple6ｦ000fl0ｸ90ｸ apple6ｦ0 09-0ｷｸｦ , 06040ｸｸ90ｸ apple00-03fl fl fl0ｷｦ fl0ｷ309fl ｸ806 6ｦ fl ｦ fl0ｷ30909 (0ｹｦ fl), ｦ00003 de novo, 09 apple6ｦｹｹｦ00ｷ fl , 006ｦ0016ｦｦ00ｸ9-0ｸ fl ｸ fl0ｷ309fl03, apple00 02fl0ｸ90306fl 0300apple ｸ8: 0ｹｷｹｦｸ , 0ｹｹ apple0904apple070ｹｸｦｦ00009fl, ｦｸｦ apple ｦ fl03 08apple ｦｦ fl 0903fl fl0ｷ30906, apple0ｸ apple000ｹ06ｦ00ｸ90306fl 0ｹ06ｦ00ｸ700, 0ｹ fl0ｷ309fl ｷ apple ｦ , ｸｷｹｦ00ｷ30909 ( ｰ apple ｱ, ｰｱ 096ｦｦ00009fl). ｨｨ00apple6 50ｸ800 ｰ006 5apple ｱ 006ｦｸｸｦ0000ｸ8 08apple ｹｸｦｦ0apple ｦｦ000016ｦ apple00 (ｨｨｦ0-0009fl, 05ｨｰ02) ｸ8. ｨｦｦ00ｹ06ｦｸ fl ｦｸｰ apple6ｦｦ0 020ｸｦ apple ｦ0 ｱ [21]. 030ｸｦ0apple ｦ apple000ｷｸ apple apple ｦｨｦ 006ｦ0 ｨC apple0703 ｨｴｦ0ｨC056ｦ000-01apple ｦ0 ｨC ｦ0 6ｦ , apple6 50ｸｦ apple076 56ｦ0006ｦｸ80ｹｹｹ06ｦｹｹ apple , apple046 76ｦ0fl ｨC ｦｦ0apple006ｦ0fl apple ｦ0-0909fl ( ｦｸｦ0), ｨC ｦ0apple ｦ0fl ｸ fl03 6ｦ , ｦ0006ｦ apple6 50ｸ apple , 04 6ｦｹ apple apple6ｦ00608apple070603apple6ｦ , 066 5fl096ｦ000000ｸｦ0apple ｦ0: ｨｪ00flｨC056ｦ001066ｦ0, ｦ0006ｦ0ｨCｨｨ09016ｦ apple ｦ0fl 0207apple036ｦ0 (I ) ｨｦ 07 0ｸｹ apple ｦｸ fl03 6ｦ apple ｦ apple00 [22]. ｨｺｦ0030ｸ flapple ｹｦｰ006 5apple ｱ 006ｦｸｦｦ0000ｸ8 [23]. ｨｦ0301apple0ｸ803090ｸｦｸｦｦｦ apple09fl ｦ : apple6ｦｦ0fl06fl 03apple6ｦ0 090ｷｦ0fl fl0ｷｦ0fl 0603apple apple6ｦ apple ｦ apple6ｦ000090ｹｸ apple6ｦ002090ｹ appleapple090307apple apple6ｦ0000ｸ8, 6 50ｸ apple ｷｦ00009fl, 03070ｹ0000ｸｦ apple ｷ300apple apple ｦｦ0 08apple0703fl fl03016ｦ fl0ｷｦ0apple0309apple076 56ｦｦｸｦｦ00009fl, apple0ｸ apple000ｹ06ｦ0-0ｸ90306fl ｹ06ｦｹ apple ｸｦ0 ｨC ｹ apple6ｦ0000ｸ8 [24, 25] % ｦ0apple0309apple076 56ｦ000000ｸｦｦｦ0apple ｸ8 036ｦ0-0807apple000ｸｦ00ｷｦｦ , 0ｹｷ apple0ｸ8 08apple fl 0ｹｦｦ apple6ｦｸｸ apple6ｦ002090ｹ apple ｦ appleapple090307apple apple6ｦ0000ｸ8, 6ｦ0 06apple ｦ fl apple ｹ apple6ｦｹｸ903 [26]. 01 apple apple00-0ｷｸｦｦ00009fl03, apple000ｹ06ｦ00ｸ90ｸ fl fl ｹ06ｦ00ｸ apple6ｦ apple fl0ｷ309fl0309, apple000ｹ06ｦ00ｸ90ｸ fl, fl03 6 5apple ｸ apple ｹ apple0703 ( ｦ0fl 0207apple036ｦ0) ｨC 6ｦ006086ｦ0apple ｦ apple09fl, apple6ｦｷ300apple ｷ , 6 5apple ｸ apple ｷ30ｸ8, 016ｦ0apple apple09 09 apple. [26]. ｨｦ6 7apple6ｦ000090ｹ fl 0ｹ fl 08apple090300apple6ｦｹｷｹｦｸｦｦｨC 006 5apple ｨｪ6ｦ apple6ｦ , apple08 6ｦ00300, 0ｹｹ apple ｦ06 76ｦ fl apple fl [7, 27] ｦ001020ｸ90ｹｦ , 0ｹ00307, , ｦｦｦ fl0ｸ apple0003fl ｦ0-0ｸ86 56ｦ fl 036ｦ0016ｦ0fl ｦ00ｷ309fl, 016ｦｦｦ00ｷ apple ｸ apple ｸ apple apple6ｦ fl, ｦｦｹ apple07fl fl ｹｦ apple07036ｦｸ apple apple6ｦ fl, 0ｹｦ0096ｦｦ fl ｦ0 036ｦｹ fl ｸｹ apple076 56ｦｹｸ803, 06036ｦｦ fl030006fl fl flapple , 0207apple0309apple04fl ｸ apple ｸ8 096ｦｦｨｴｦｦｸｸｦ00ｹｸｦｸｦ001 ｰapple6ｦｨB ｱ ( ｰlumping and splitting ｱ) 006ｦｦ000000ｸ flapple , ｹ000fl0ｸ90ｸ apple09006ｦｰｹｱ [28]. 05 0ｹｸｦ000000ｸ flapple , apple0ｸ803 06apple6ｦｦ fl apple 006ｦｸ apple6ｦｹ0000ｸ803 0ｹ fl0ｷ309fl03, 06036ｦ fl0306fl apple040ｸ90ｸｦ0096ｦｸｦ0090ｸ86 56ｦ000030ｸ fl fl0ｷｸ803 08apple070ｷｦ apple apple0309apple076 56ｦ00009fl

3 ｨｨ04090ｸ8apple006 5, 026ｦｦ0 6 7apple04096ｦ0 006ｦｸ apple6ｦｹ , 0ｹ flapple ｹｸ8 fl6 502fl0ｸ903-06fl 016ｦ00ｹｸ80309, 03070ｹ0000ｸｦ00ｹ0000ｸ apple6ｦｹ apple ｦ0016ｦ00309, apple0ｸｸ8-6 56ｦ00ｸ90306fl ｹ , 0807apple ｦｸ8, apple6ｦｹ0000ｸｹｸｨB ｸ9 070ｷ [29]. 02ｨｦ000001ｨｬ00ｨｹｨｺ0402ｨｹｨｪｨ 0102 ｨｹ01ｨｬｨｪ0501ｨｨｪｨｦ0000ｨｨｹ apple ｦｹ apple ｹｦ0apple0100apple apple ｹｦ0apple0100apple0ｸｹ (0ｹ1apple0903apple070ｷ309036ｦ0apple000ｸ800 6ｦｸ8 6 7apple apple ) ｹ ( apple ｸ8 060ｸ86 507apple apple , 0ｹ1apple0903apple070ｷ309036ｦ0apple000ｸ apple ｸ8 01apple ) apple [1], 6ｦｸ apple07066ｦｸ800 (STR) ｸｸ8 Alu apple076 5 [30], apple096ｦ [31], ｸ8-016ｦｦ0030ｸ8 0409apple apple6ｦ00608apple070603apple6ｦｸｦｦ [32], 006ｦｷ3, apple ｸｦ00ｷｦｸ [16, 17, 33ｨC37]. ｨｴｦ0-0009fl, ｸ apple6ｦ002090ｹ fl ｦ000000ｸｦｸｦ , ｸ , 0ｹ ) 0107apple ｦ fl ｨｹｸ apple ｦ0fl 0807 apple6ｦ , ｦ apple ｸ ; 2) 07 98% 02090ｷ apple6ｦ apple030ｸ fl6 502fl0ｸ90306fl ｸ fl0309, 6ｦｷ fl 006ｦ fl apple6ｦ00ｷｸ806 08apple ｸ apple6ｦ000090ｹ appleapple090307apple ｨｹ ; 3) ｦ003070ｹｸ apple fl0ｷ30909 ( ｦ0fl 0ｹ06ｦｦｦ00ｷｦｸ803 apple6ｦ ); 4) 08apple ｦ fl ｸ806 apple ｹｦ0 060ｹｸ apple0708 6ｦ (096ｦｹ fl ｹ009026ｦ apple6ｦ009) [38]. ｨｨ00apple000ｹｸｦ apple0ｸｦ00ｸｸｸｹ fl0ｷｸ9 08apple0703fl ｰｱ LD (0000apple6ｦ fl ｷｸ9), 0ｹ fl ｸ fl0ｷ3090ｸ9 01 ｰ09 006ｦｸ803 ｱｦ00ｷｹｷｹｦ00ｷｦ0apple0309apple076 56ｦ00009fl apple apple6ｦ00608apple070603apple6ｦｸｦｦ [39] ｹｦｦ fl0ｷｦ0apple6ｦｸ flapple ｹｹｸ apple ｸｸ fl ｦｷ300 08apple ｦｸｸ8, apple0ｸｦ apple ｦｦｰfl ｦｸｱｷ300apple flapple006ｦ0fl 6ｦ0036ｦ fl, I ( ) ｨC 006ｦｦｦｦｦ , fl apple fl6 502fl000306fl apple07fl (01 20ｨC ｦ003) apple ｹ000036ｦ00009fl 08apple076 7apple apple040ｸ90ｸｹ apple6ｦｦ apple ｸ XX ｨｹｰｹ apple0300 ｱｸｹ1000ｷ300026ｦｦ0 [40, 41]. 050ｸｦ0fl apple6ｦ00608apple070603apple6ｦｦｦ00009fl ( ｦｸ806. fl apple6ｦｸ9 1ｨC2 : ｸ apple ｦ ) 6 5 ｨｹｸ8-026ｦ0 070ｷｦ0 016ｦ001 ｰ apple ｹ06ｦ06 7 ｱ 006ｦ fl 096ｦｦ00009fl, 01apple apple00 [17, 18, 35] flapple ｦｦ00009fl fl6 502fl000306fl ｹ fl ｹｦ0 03apple ｸ803 CAG apple ｨC apple6ｦｸｨC apple SCA1, ｦｦ000000ｸｦ p22ｨCp23 [18]. 05apple00 09 apple6ｦｹ0000ｸ apple03 006ｦｸ803 6ｦ0036ｦｨｹ apple000ｹ06ｦ fl % [42] ｹｦ0fl apple070209fl (0205) ｨC 006ｦｦｦｦｦ , 08apple07fl6 502fl0ｸ90ｸ fl , ｦ , 0600apple 000ｹｸｦ0apple fl0309, 0ｹ apple ｦｸ80309 apple6ｦ apple ｦ00309, 016ｦ0036ｦ0apple6ｦｦ0. 046ｦ00ｹ009006ｦ fl apple6ｦ , ｹｸｨC fl ｹ apple (D02) apple6ｦｦ q13.2ｨCq ｹ flapple ｦｦ00009fl fl6 502fl000306fl 0ｹｦ fl 0ｹｦ CTG apple6ｦ ' apple6ｦ apple ｹ06ｦｦ0 D02. ｨｮ CTG apple apple ｦ06 502fl , 08apple09 08apple ｦ00ｷ30909 ｨC , 08apple09 086ｦｨC ｸ806fl0ｹ0 CTG apple ｨｦ apple ｦ0 CTG apple ｦ apple ｦ0090ｸｸ803 ｨｹ , 08apple09006ｦｦ00ｸ apple6ｦ009000ｸ803 0ｹｹ apple ｦ003 (fl ｸ8, 0ｹ , 0ｹｸ8, 0ｸ9016ｦ06 709apple0ｸｦ0000ｸ8), ｦ0apple apple ｹ apple6ｦ apple6ｦ00909fl apple6ｦ fl0ｷ309fl apple6ｦ apple086ｦｦｸ803 6ｦ [33, 34]. ｨｮ6ｦｦ apple6ｦｹ0000ｸ fl0ｷ309fl apple6ｦ0 0708apple fl000306fl apple6 56ｦｨC ｦｸｦ fl [43]. 05 ｨｹ apple6ｦ00608apple070603apple6ｦｦ00ｹｸｦ06 502fl fl ｦｸｦ fl [44]. ｨｴ0309 6ｦ000000ｸ800, apple6ｦ00ｸ90ｸ fl 006ｦ0 0ｹｸ803 (n = 92), 096ｦ0apple apple09apple076 56ｦ000000ｸｨｺｦｹ apple apple00 (ｨｹ ), 6 500apple07fl030007, apple006ｦｸ8, 0ｹ apple ｸ800 apple6ｦ [15]. ｨｦｦ0apple ｦｦ0fl 030ｸ804000ｹ0006ｦ0fl apple070209fl (ｨｦ060205) ｨC 006ｦｦｦ apple ｸ8 c 6ｦｦｸｦｦ0-0009fl, 036ｦ apple040ｸ90ｸｸ80ｹｦ0 5ｨC fl ｹｦ0apple ｦｦ00009fl 006ｦ0-020ｸ9 6ｦ00ｸ90306fl 08apple076 7apple apple040ｸ90ｸ76ｦ0fl 030ｸ804000ｹ0006ｦ0fl 06026ｦｦ003apple070209fl 08apple ｦｸｹ , apple6ｦ apple ｦｦ00009fl ｦ00ｷ30909, , 06026ｦｷｦ00304apple0ｸ8. ｨｦ fl 01 0ｹ apple ｦｦ apple000ｹ06ｦ fl apple apple6ｦ0006ｦｹ06ｦ : ｨC [45]. ｨｦ 006ｦ apple0ｸ803 0ｹｹ apple ｦ appleapple090307apple096ｦｸ apple ｦｹｦ fl 0ｹ06ｦｦ0 ｨｦｦｸ8-0400, 006ｦ008apple090300apple, apple6ｦｦ0006ｦ fl0ｷ30909 ｨC 1 : 1000 [45], apple ｦ0apple0ｸ8 ｨC 1 : 600 [46].

4 ｨｪｨｦ0000ｨ 04ｨｨｬｨｹ01ｨｬｨｪｨｦｸ9, ｦｸ9 apple6ｦｹｸ8apple6ｦ , ｸｸ803 04apple ｦｦ003070ｹｸ apple ｦ0090ｸ apple ｨｺ6ｦｹ06ｦ00ｸ apple030ｸｷ309036ｦ0 0200apple ｦ apple ｦ0090ｸ8. ｨｨapple apple0300 I 04ｨｴｸ90306fl ｸ8 0307apple apple , apple ｸ fl096ｦｹ1apple0903apple070ｷ309036ｦ0apple apple6ｦ apple ｷ apple0703-b5-apple ｦ ( 096ｦ00207apple6ｦ ). ｨｨapple apple0300 II ｨC ｦ0fl ｦ apple6ｦｦ000000ｸ apple ｸ , 096ｦ003apple6ｦｦ00ｸ90ｸｦ001 apple6ｦ apple ｸ9, 036ｦ apple ｦｸ9 0ｷ apple0703-b5- apple ｦｹ1apple0903apple070ｷ309036ｦｷ309036ｦ003. ｨｨapple ｷ NADH-0ｷ apple0703-b5-apple ｦ0090ｸ8 07 apple6ｦ009040ｸ90ｸ fl apple apple6ｦ , 09 04apple ｦ apple ｦ00ｷ apple apple ｦ06 502fl % ( apple ｨC 2%, 6ｦ apple0300 ｨC %). 04ｨｴ02 fl6 502fl000306fl apple ｦｦ00ｷｦ0 096ｦ00207apple6ｦ0-090ｸ8 (DIA1), ｦｦ apple ｦｦｹ06ｦ0 03apple ｸ8 22, ｹ06ｦ q13-qter ｦ fl0ｸ apple0003fl ｦ00ｷ DIA1, apple0ｸ803 08apple fl03 01 apple6ｦｸ9 04ｨｴ02 I ｦ0 [16] apple00 04ｨｴ02 0ｹ06ｦ apple000ｹ06ｦ fl 06apple ｹ fl [52], ｹ0000ｸｹ06ｦｦ0000ｸ8 6 5 apple fl0ｷ309fl apple6ｦ0. 05 ｨｹｸｸ8 0ｸｸ8fl apple ｹ06ｦｨｴ02 [53] ｦ fl0ｸ apple00-03fl apple6ｦ00608apple070603apple6ｦｨｴｨｹｷｦ fl 016ｦ001 1 : 5677 [15]. ｨｨ00apple6 56ｦ0fl ｸ803016ｦ flapple ｹｦ00009fl 036ｦ0apple6ｦ apple6ｦｦ00ｷｦ0 DIA1 04 fl ｸ803 04ｨｴ02 I ｦｦ0096ｦ0026ｦ [14] ｦｸｦ00ｷ apple6ｦｸ800 6ｦ000000ｸ fl ｦｸ fl03 04 fl apple00 046ｦｦ (OMIM*) ｨｪｦｦ00009fl** ｦ00ｷ309fl 04 fl ｨｺ6ｦ00608apple070603apple6ｦｦｸ806. 0ｹ apple6ｦ00304apple006ｦ0fl 06060ｸ802016ｦ0 04 fl apple ｷ300apple flapple006ｦ0fl 6ｦ0036ｦ fl I ｦ0 (164400) ｹｦ0fl apple070209fl (160900) ｨｦｦ0apple ｦｦ0fl 030ｸｹ0006ｦ0fl apple070209fl (164300) 046ｦｦ0fl 0ｹｹｦ0fl fl (250800) 0205 ATXN1 ｨｴｦ fl CAG apple ｨC2.0 [42, 35] 0205 DMPK ｨｴｦ fl CTG apple ｨC5.0 [44, 43] 0205 PABPN1 ｨｴｦ fl GCG apple [36, 45] 02ｨｺ DIA1 Pro269Leu [16, 15] apple0703 (273750) 02ｨｺ CUL7 4582insT [37] * OMIM ｨC apple 6 5 0ｹ apple apple ｦ0036ｦｦｦｸｦ0 ｰMendelian Inheritance in Man ｱ (MIM): ** ｨｺｨC 6ｦｦｸｦ apple000ｷｸｸ8 006ｦｦ00009fl. 05 ｨｹｦｦｸｦｦｰ 00030ｸｱｨC 016ｦ apple6ｦ009006ｦ0fl 006ｦｦ0fl 0207apple036ｦｦ0apple ｦ0apple6ｦ002090ｹ06ｦ0 [47]. 05 6ｦ , ｦ001 ｨｦ060205, 0ｸｦ0000ｸｸｹ06ｦ009 0ｹ [48]. 05 0ｷｦ0096ｦ0006ｦ0 6 50ｸｦ0fl 0ｹ06ｦｦｦ0apple ｦ apple apple ｸ fl ｦ fl ｦｨｬｦｨｮ6ｦｦ0 ｨｦ apple00 09 fl ｦ fl ｨC 1 : 11680, 0ｹｸｨC20 apple6ｦ apple apple09apple apple [36] ｨｦ apple076 56ｦｦ q11.2ｨC ｦ (02) fl090ｸ86 56ｦ00ｸ90ｸｦ0 2 (PABPN1), ｦ00ｸｦ apple ｦ apple076 56ｦ00009fl 03ｨｺ0401; ｷ309apple076 56ｦ0006ｦｦ00ｷ309fl ｨC ｹｹｦ apple ｸ803 GCG apple ｹｦ0 [49] apple apple ｦｸ apple076 5 GCG, 6ｦｸ803 0ｹ apple ｦｨC apple0ｸ fl0ｷ309fl03 0ｹｦ fl 0ｹｦ0 03apple ｸ apple apple ｦ0 060ｹ apple ｦ fl GCG apple076 5 [46, 50], 6 5 apple ｨC ｹｦ GCG apple apple GCA ｦｦ0 [51]. 05 ｨｹ apple6 50ｸ800 08apple flapple ｹｦｸｸ8fl ｦｦ00ｷ309fl ｹｦ0 PABPN1, 096ｦ001020ｸ90ｹ06ｦ00ｸ90ｸ76ｦ0fl06fl ｹ GCG apple [36] fl03 08apple09 08applefl apple076 56ｦｦｦｦ00ｷ30909 ｨC ｦｦ0 0ｹ000030ｸ8apple0003 GCG apple ｦｦ0fl 0ｹｹｦ0fl fl I ｦ0 (04ｨｴ02) ｨC 006ｦｦ apple000ｷｦｦ , 08apple07fl6 502fl0ｸ90ｸ fl 0ｷ3096ｦｸ apple ｸ803, 07 0ｸ ,

5 ｨｨ04090ｸ8apple006 5, 026ｦｦ0 006ｦ0 DIA1 (Len72Pro, Vall105Met, Arg57Gln), ｦ0apple ｸｦ fl ｨC fl ｷｦ0060ｷ3006 5, ｸ8026ｦｷ309apple076 56ｦ0006ｦ0. ｨｨｹｸ8 07apple apple ｸ803 fl ｸ apple076 50ｸ803 apple apple ｦ0006ｦ apple6ｦ fl ｷｸ9 096ｦｦ00009fl 06 0ｹ000030ｸ8apple0003fl 036ｦ0apple0100apple6ｦ00309, 02026ｦ apple040ｸ90ｸ DIA1, 6ｦ0 096ｦ apple076 56ｦ fl0309 0ｹｦ0 [16]. 050ｸ8fl ｦｦ0fl ｦ00ｷ309fl 6 5 0ｹ , 08apple fl0ｸ76ｦ0fl ｦ Pro269Leu apple NADH-0ｷ apple0703- b5-apple ｦｰｨｹ apple apple ｱ (ｨｹ0504) apple ｦｦｦｦ000000ｸｨｺ. 026ｦｦ [37] apple0703 0ｸｸ90ｹｦ0036ｦ OMIM 016ｦ001 6ｦ apple006ｦｸｰ apple ｱ (OMIM ). ｨｦｦ fl 07 ｨB fl 0ｹ apple apple ｦ0036ｦｦ0 ｨC CUL7 ( ), apple6ｦｹ0000ｸｦ00ｷ309fl fl fl ｸ apple070807apple0ｷｦ apple , 08apple ｦ0036ｦｦ0-00apple apple ｦ0, 02090ｷｸ apple0209fl apple- 036ｦｸ803 04apple ｦ apple apple ｦｸ802 08apple apple ｦｦ0 [37], ｦ0096ｦｹｷ D6S282 (0007-6ｦ ). 016ｦｦ003000ｸ806 apple ｦ0 0ｸ apple ｦ0apple0100apple6ｦ00309 D6S D6S (Cullin7, CUL7), ｦ0 apple6ｦ apple07036ｦｦ0apple0309apple076 56ｦ apple6ｦｦ apple ｹ000000ｸ apple6ｦ000 [54]. ｨｨｹｦ000000ｸ800 fl ｸ803 0ｸ apple apple07036ｦ0 3-02, ｦ apple0ｸ8 apple , 0ｹ00307 CUL7 fl6 502fl000306fl 0307apple ｦｦ003000ｸ fl fl ｦ0apple096ｦ000036ｦ0 006ｦｦ apple applefl apple076 56ｦ apple04-0ｸ90ｸｹｦ0 CUL7. ｨｬｸ803 0ｸ8-026ｦｷ309apple076 56ｦ0006ｦｦ0fl ｦ00ｷ309fl 4582insT CUL fl000909, ｦ0fl 6 50ｸ806036ｦｹ0000ｸｦｸ803, 6ｦ apple ｨC 0708apple apple , 08fl ｸ apple076 50ｸ apple0703 (OMIM ) fl apple ｦｸ apple ｦｹ apple ｸ9. ｨ 6ｦｦｦｦ apple6 50ｸｦｦ apple0003 6ｦ apple076 5 (Miller, McKusick, Malvaux), apple6 50ｸｦｹ apple [55]. ｨｴ0307 apple ｦｦｦｦ apple000ｷｸｦｦ00009fl 036ｦ0- apple6ｦ apple fl 08apple ｦ0036ｦｦ0 00apple apple ｦ0, 02090ｷｸ apple0209fl0309, 0007apple036ｦｸ apple ｹ fl fl03 ( apple04 0ｹ06ｦ0030ｸｸ ). ｨｮ6ｦｦ apple07036ｦ apple ｦ0, 036ｦｦｦｦｹ0-000ｸｹｹ06ｦｦｦ00009fl 6 5 apple6ｦ009000ｸ803 0ｹｹ apple ｦ003 [56, 57] CUL7 (KIAA0076, ), 6 50ｸ8090ｸ86 56ｦ00ｸ90ｸｹ10307 apple ｦｦ , 0ｸｦ0apple0309apple076 56ｦｷ309apple076 56ｦｦ0 03apple p21.1 [54]. ｨｦｹ apple CUL7, apple0ｸ fl , fl0ｸ apple apple fl096ｦｸ , ｹｸ apple070ｷｸｹ apple fl0ｷ30909, 03apple6ｦｷｦ0026ｦ0, apple apple fl0ｷ apple00086ｦ0apple6ｦ00ｷ Huber et al [54] ｦ apple6ｦｹ0000ｸｦ00ｷ fl 6ｦｦ0, apple0ｸ803 ｨC 08apple ｦ0090ｸ86 56ｦ000036ｦ0fl 08apple apple ｦ0fl 0300apple ｦ00ｷ309fl 03apple6ｦ fl0ｷｨC ｦ00ｷ30906, ｸ apple ｨC 6 50ｸｷｨｪｦ0, 026ｦ0apple , 06apple6ｦ0000ｷ30909, apple6ｦ0, 0509apple0909, ｨｨ07apple ｦ , 0700apple036ｦ , ｨｰapple09-006ｦ , ｨｪ04apple0ｷ30909, 0700apple- 036ｦ , apple0909, ｨ 036ｦ , 0504apple09006ｦ0036ｦ0, ｨ apple6ｦ fl ｸ800 0ｸ fl096ｦ0000ｸ apple ｸ803 apple ｨｪ6ｦ apple6ｦ , 04 fl ｸ803 c0900 apple ｸ8090ｸ86 56ｦ fl , ｦ apple6ｦｦ0-0ｷ CUL7. 050ｸ8fl ｦ0fl ｦ0fl ｦ00ｷ309fl CUL ｸｸ8fl ｸｦｦ0090ｸ86 56ｦ00ｸｦ0 0ｹｦ fl. ｨｺ6ｦ00608apple070603apple6ｦ fl apple07036ｦ apple (ｨｹ0504) ｦ06 502fl : 8775, ｦｸｦ fl [58]. ｨｨｮ0004ｨｸ fl0300 fl ｦｸ (ｨｹ0403) apple090300apple09fl apple6 50ｸ803, apple6ｦ00608apple apple6ｦｦ00ｹｸ80400, 0ｹ apple ｦ0apple ｦ , 6ｦ0 6 56ｦ0 096ｦｦ00009fl ｨC ｷ300apple flapple006ｦ0fl 6ｦ0036ｦ fl I ｦ0 09 0ｹｹｦ0fl fl ｨC ｸ apple076 50ｸｹ06ｦ06 76ｦｦ fl 006ｦｸ apple0ｸ803, 02fl 016ｦｸ8fl ｸ flapple apple09apple07 0ｸ8, ｹ06ｦ00ｸ90ｸｸ apple fl0ｷ309fl03, apple0ｸ apple000ｹ06ｦ0-0ｸ90306fl 09006ｦ00ｹ apple ｦｦ apple ｦｹｹｦｦｨｺｦｹ apple apple00 (ｨｹ ) apple036ｦ00ｷ30909, ｸｰ016ｦｦｱ 006ｦ0 ｨｹ0403: apple ｦｦｦ003apple apple apple6 56ｦ apple ｦｦｷ [59], apple09 apple ｦ apple apple [15]. ｨｪ0007apple ｹｦ0fl 6 56ｦ flapple ｹｹ fl 0ｹｷｹｦｦｹｦ0, 006ｦ0applefl apple6ｦ0 090ｷｦ00ｹｸｦ00603fl ｦｨC ｹｦ0fl apple ｹ apple , ｹ apple6ｦ apple6ｦ fl0ｷｹｦ0, ｹｦ apple fl0ｷｦ , 0708apple fl0ｸ90ｸｦ , ｨC 096ｦ001020ｸ90ｹ06ｦ fl 000ｸ , 0ｹｸｦ00009fl 6ｦ00ｸ apple ｦ apple apple6ｦ apple6ｦ00909fl 006ｦｦｨC ｹｸｸｸ90ｸｦ000090ｸ9 036ｦｸｷｦｸｦｦ00ｷｨｬｦ , 0ｹ apple ｹｦ000090ｸｦ apple07fl fl ｦｦ

6 ｨｪｨｦ0000ｨ 04ｨｨｬｨｹ01ｨｬｨｪｨｦｦｦ00009fl ｦ0090ｸ86 56ｦｹｸｸｦ00ｷｦｦｦ apple096ｦｸｦｦｨC ｦ0fl 0ｹ06ｦｦｦｦ flapple000ｸｦ , ｦ00ｸ apple apple6ｦ00608apple070603apple6ｦｸｦｦ , ｦ00009fl, ｹｸ800 08apple ｹ apple ｦｸ apple03 086ｦ [60]. 05ｨｨｨ 05ｨｦ01 00ｨｨｪ00ｨｺ02ｨｪｨｬｨｺ apple6ｦ00209fl 006ｦ0apple ｦ fl / ｨｨ07 apple ｨｺ0ｸ80ｹｦ0. ｨｪｦ fl ｨｺ apple ｸ apple6ｦｨｨ.: 046ｦ004016ｦ0, McKusick V.A. Genomics: structural and functional studies of genomes. // Genomics V. 45. P. 244ｨC ｹｨｨ., ｨｪｨｺ apple6ｦ002090ｹｦ0fl 06apple00 6ｦｦｦ0fl 086ｦ fl 0ｹｦ0 // ｷｦ0fl apple6ｦ00209fl: 046ｦ0040ｹ apple. ｨｦｦ0 07ｨｦｨｺ. ｨｦ , ｨC ｨｴ02apple ｨｨ., 016ｦ002030ｸｦｨｬ apple ｹｦ003apple090ｹ // ｦｹｨC ｹｨｨ., ｦｦ0 ｨｪ.05., 076ｦ0apple00016ｦ06 50ｷｦ0 ｨｺ apple ｹｹｦ fl ｨ 6ｦ0-086ｦｨｨ6ｦ00309apple6ｦ0. I , 006ｦｸ apple ｹｦｦ00009fl ｸｦ00003apple ｹ apple ｦ00109 // ｦｨｪ. 7. 6ｧｨC apple ｨｨ fl0ｷｦ0fl ｦｷ309006ｦ0 // ｨｺｧｨC ｦｸ fl0ｷ309fl03 0ｹｦ0 / ｨｨ07 apple apple6ｦ0. 02.: ｷ309006ｦ0, ｨ 09000ｹｨｺ.02., ｹｦ0 07.ｨ., 076ｦｦ apple apple00000ｷ3096ｦ00ｷ309fl 0ｹｹ apple ｨｺｦｦｸ // ｦｨｪ. 6. 6ｧ82 (56) ｨC ｨｨ04090ｸ8apple ｨｨ. ｨ 09040ｹ apple6ｦ00608apple070603apple6ｦ fl 006ｦｸｨ 6ｦ0086ｦ apple09 // ｨｺｧｨC ｨｨ04090ｸ8apple ｨｨ., ｨｴapple 0ｸｦ , 046ｦ0096ｦ0apple ｨｨｹｹｦｦ fl ｨｪ046 50ｸ8. ｨｪ : STT, ｷ30ｸ8006ｦ , 026ｦｦ0 04.ｨｺ., 076ｦ000 0ｸ , ｦ0 05.ｨｨ. 046ｦｦ0fl 086ｦ fl , 07 apple6ｦ fl ｦ00ｷｦ apple6ｦｷ309000ｸ8 ｨｺｦ0036ｦ0 (ｨｹ fl) // 056ｦ apple ｧｨC ｨｨ04090ｸ8apple ｨｨ., 046ｦ0096ｦ0apple ｨｨｹｹｦｦｦｨ 6ｦ0086ｦ apple09. ｨｪ : STT, ｦ0096ｦ0apple ｨｨ., ｷ30ｸ8006ｦ , 056ｦ0020ｸｦ0 ｨｦ.02., ｦｨｺ6ｦ00608apple070603apple6ｦｸｦｸ apple ｦ fl ｨｺｦ0036ｦ0(ｨｹ fl) // ｹｦｦ fl ｨｺｦ0036ｦ0(ｨｹ fl): ｦ0040ｹ000.03apple. / ｨｺｨｨ. ｨｨ04090ｸ8apple006 5 ｨｹ : ｨｨｹ06 05ｨｦｨｺ0204, ｨC ｦ0096ｦ0apple ｨｨ., 056ｦｦ , 046ｦ0096ｦ0apple apple ｦｦ00ｷｦ0 0ｹｹｦ fl fl0ｷ30909 // ｹｦｦ fl ｨｺｦ0036ｦ0(ｨｹ fl): ｦ0040ｹ000.03apple. / ｨｺｨｨ. ｨｨ04090ｸ8apple006 5 ｨｹ : ｨｨｹ06 05ｨｦｨｺ0204, ｨC ｨｪ6ｦ0apple06016ｦ0fl , ｨ 09000ｹｨｺ.02., ｹｦ0 07.ｨ. 09 apple. 0503apple apple6ｦ0 09 apple6ｦ apple6ｦｦｦｨｺｦ0036ｦ0(ｨｹ fl) // ｦ0, ｨｪｧｨC1539. (Tarskaia L.A., Zinchenko R.A., Elchinova G.I. et al. Nhe Structure and diversity of hereditaru pathology in Sakha Republic (Yakutia) // Rus. J. Genetics V ｧ8 11. P. 1264ｨC1272.) ｦｦ , 046ｦ0096ｦ0apple ｨｨ., 046ｦ0096ｦ0apple flapple ｹｦ0fl 08apple090ｹ009006ｦ0 006ｦ apple ｦ0 6 5 ｨｹ // ｦｨｪｨC Goldfarb L.G., Vasconselos O., Platonov F.A. et al., Unstable triplet and phenotypic variability of spinocerebellar ataxia type 1 // Ann. Neurol V. 39. P. 500ｨC Lunkes A., Goldfarb L.G., Platonov F.A. et al. Autosomal dominant spinocerebellar ataxia (SCA) in Siberian ataxia type 1 // Exp. Neurol V P. 310ｨC Baird P.A., Anderson N.W., Newcombe N.B., Lowry R.B. Genetic disorders in children and young adults: a population study // Amer. J. Hum. Genet V. 42. P. 677ｨC Stevenson A.C. The load of hereditary defects in human populations. // Rad. Res Suppl. 1. P. 306ｨC McKusick V.A. A 60-year tale of spots, maps and genes // Annu. Res. Genomics Hum. Genet., ｧ8 7. P. 1ｨC McKusick V.A. ed. (Medical Genetic studies of the Amish: Selected Papers. Baltimore): Johns Hopkins Univ. Press., p. 23. Francomano C.A., Biesecker L.G. eds. Medical genetic studies in the Amish. // Am. J. Med. Genet., V. 121 C. P. 1ｨC Peltonen L., Jalanko A., Varilo T. Molecular genetics of the Finnish disease heritage // Hum.Mol.Genet V. 8. 6ｧ8 10. P. 1913ｨC Kere J. Human population Genetics: Lessons from Finland // Ann. Rev. Genomics Hum. Genet V. 2. P. 103ｨC Norio R. Finnish disease heritage // Hum. Genet V P. 441ｨC apple ｨｴｹ apple6ｦ00608apple070603apple6ｦ fl 006ｦｸ // ｦ0 0ｹｦ0. 02.: 05ｨ 04ｨｨｪｨｨｪｨC McKusick V.A. On lumpers and splitters, or the nosology of genetic disease // Perspect. Biol. Med V. 12. P. 298ｨC Biesecker L.G. Lumping and splitting: molecular biology in genetics clinic // Clin. Genet V. 53. P. 3ｨC ｦｨｴｦ0 006ｦ fl apple apple6ｦｨｪ : ｨｨ000ｹ06ｦ003006ｦ0fl 036ｦｦ apple6ｦ0, ｨｨ04090ｸ8apple ｨｨ., ｦ , apple Y-03apple ｸ fl0ｷ30909 fl // ｦｨｪｧｨC981.(Puzyrev V.P., Stepanov V.A., Golubenko M.V. et al. MtDNA and Y- chromosome lineages in the Yakut population // Rus. Genetics V ｧ8 7. P. 816ｨC822.) 32. ｨｨ04090ｸ8apple ｨｨ., 06apple , 01040ｹ000apple ｹ apple6ｦ apple6ｦｦ0apple ｦ fl ｹｦ0. ｨｪ : ｨｨ000ｹ06ｦ003006ｦ0fl 036ｦｦ apple6ｦ0, ｨｨｦ , ｨｨ.02., 076ｦ apple ｦｦ apple ｦ0 03apple

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