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

Transcription

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 ; [email protected] 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

7 ｨｨ04090ｸ8apple006 5, 026ｦ ｦ0 000ｸ apple076 5 (CTG)n 09 (CAG) n ｦ003 DM, DRPLA 09 SCA1 6 5 apple6ｦ ｹ0000ｸ fl0ｷ309fl03 ｨｺ // ｦ ｨｪ ｧ ｨC apple076 56ｦ , ｦ ｦ0 ｨｺ.ｨ., ｨ apple. ｨｨ apple (CTG) apple ｦ apple ｦ0090ｸ fl0ｷ309fl03 ｨｺ ｦ0036ｦ0(ｨｹ fl) 09 05apple // flapple006ｦ0fl fl ｨｪ ｧ ｨC ｨ 02026ｦ0apple , ｨｺ ｦ0fl , ｨ 6 56ｦ ｦ ｦ0fl ｨ apple. 046ｦ ｸ800 6ｦ0036ｦ ｦ0- apple6ｦ : apple apple ｦ ｦ0 04.ｨｺ., 0107apple , ｦ ｦ0 ｨ apple ｹ flapple ｹ ｦ ｸ ｦ0apple ｦ apple ｨｺ ｦ0036ｦ0 (ｨｹ fl) // ｦ ｦ fl 050ｸ / ｨｨ07 apple ｨｨ. ｨｨ04090ｸ8apple006 56ｦ0. ｨｪ : ｨｨ000ｹ06ｦ003006ｦ0fl 036ｦ ｦ apple6ｦ0, ｨC Maksimova N., Hara K., Miyashita A. et al. Clinical, molecular and histopathological featurea of short stature syndrome with novel CUL7 Mutation in Yakuts: new population isolate in Asia // J. Med. Genet V. 44. P. 772ｨC ｹ000apple ｨｨ fl0ｷ ｦ0fl 0603apple apple6ｦ0 0107apple apple ｦ fl apple apple ｦ0 // ｦ ｨｪ. 1. 6ｧ ｨC ｨｨ04090ｸ8apple ｨｨ ｦ ｦ apple096ｦ ｸ ｦ ｦ : apple ｸ ｸ70903 // ｦ ｨｪ. 2. 6ｧ ｨC ｦ apple0ｷ ｨ. 07apple ｹ fl ( ｸ ) 0ｹ1000ｷ300026ｦ ｦ ｦ00300apple096ｦ0026ｦ apple ｹ fl ｨｹ apple ｦ ｷ30ｸ8. ｨｹ , ｨC ｨ 04 apple , ｦ0apple ｦ ｦ0fl ｹ ｦ0fl 6ｦ0036ｦ fl 6 5 ｨｹ // ｨｨ00apple6 56ｦ0fl ｸ909006ｦ0fl ｷ : ｨｪ : ｨ ｨｺ, ｨC ｨｨ026ｦ , ｨ 02026ｦ0apple , ｦ apple ｷ300apple flapple006ｦ0fl 6ｦ0036ｦ fl 0800apple ｦ0 6 5 ｨｹ : apple6ｦ00608apple070603apple6ｦ ｹ ｦ fl // ｦ ｨｪ ｨC Harper P.S., Van Engelen B., Eymard B., Wilcox D.E. Myotonic dystrophy: present management, future therapy. N. Y.: Oxford Univ. Press., p fl ｦ ｦ ｦ0fl ｹ ｦ0fl apple070209fl 6 5 ｨｺ ｦ0036ｦ0 (ｨｹ fl): apple ｭ 016ｦ ｦ ｨｪ , Bouchard J.-P., Brais B., Brunet D. et al. Recent studies on oculopharyngeal muscular dystrophy in Quebec // Neuromusc. Disord V. 7 (Suppl. 1). P. S22ｨC Blumen S.C., Korczyn A.D., Lavoie H. et al. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene // Neurology ｧ P. 1268ｨC ｨ 6ｦ ｰ ｸ ｱ ｨC apple6ｦ009006ｦ0fl 006ｦ ｦ0fl 0207apple036ｦ ｦ0apple ｦ0apple6ｦ002090ｹ06ｦ0 06apple00 09 fl // apple07086ｦ ｦ ｨｪ. 1. 6ｧ ｨC apple , ｦ0 ｨ apple apple6ｦ006-08apple070603apple6ｦ ｦ ｸ apple6ｦ ｸ ｦ ｦ apple ｸ8 006ｦ0 0300appleapple090307apple0909 ｨｺ ｦ0036ｦ0 // ｦ ｸ apple07060ｸ apple fl 006ｦ fl ｨｺ ｦ0036ｦ0. ｨｹ , ｨC Braise B., Bouchard J.-P., Xie Ya-G. et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy // Nat. Gen V. 18. P. 164ｨC Becher M. W., Morrison L., Davis L.E. et al. Oculopharyngeal muscular dystrophy in hispanic New Mexicans JAMA V P. 2437ｨC Rodriguez M., Camejo C., Bertoni B. (GCG) 11 founder mutation in the PABPN1 gene of OPMD Uruguayan families // Neuromusc. Disord V. 15. P. 185ｨC Scott E.M. The relation of diaphorase of human erythrocytes to inheritance of methemoglobinemia // J.Clin.Invest V. 39. P. 1176ｨC ｨｪ07016ｦ0apple , 076ｦ002026ｦ ｨｺ., 0107appleapple6ｦ002fl ｦ ｸ800 6ｦ ｦ : ｷ309006ｦ Huber C., Dias-Santagata D., Glaser A. et al. Identification of mutations in CUL7 in 3-M syndrome// Nature Genet V. 37. P. 1119ｨC Miller J.D., McKusick V., Malvaux P. et al. The 3-M syndrome: a heritable low birthweight dwarfism // Birth Defects Orig. Artic. Ser ｧ8 11. P. 39ｨC Cantu J.M., Garcia-Cruz D., Sanchez-Corona J. et al. 3-M slender-boned nanism. An intrauterine growth retardation syndrome // Am. J. Dis. Child V P. 905ｨC Temtamy S.A., Aglan M.S., Ashour A.M. et al. 3-M syndrome: a report of three Egyptian cases with review of the literature // Clin. Dysmorphol V. 15. P. 55ｨC ｦ ｦ0 04.ｨｺ., ｷ30ｸ8006ｦ , ｨｨ04090ｸ8apple ｨｨ. ｨｺ apple fl : ｹ ｦ0fl flapple ｹ ｦ0fl 036ｦ0apple6ｦ apple ｦ0 // ｦ0 0ｹ ｦ ｦ fl: ｦ0040ｹ apple. / ｨｨ07 apple ｨｨ. ｨｨ04090ｸ8apple006 56ｦ0. 050ｸ ｨｪ : ｨｨ000ｹ06ｦ003006ｦ0fl 036ｦ ｦ apple6ｦ0, ｷ30ｸ8006ｦ ｨｦ03fl6 7070ｸ ｦ fl ｨｺ ｦ0036ｦ0 (ｨｹ fl) 006ｦ ｦ ｦ0006ｦ apple6ｦ ｸ8 apple ｦ ｹ ｦ00ｷ30909: ｭ 016ｦ ｦ ｨｪ , Peltonen L., Perola M., Naukkarien J., Palotie A. Lessons from studying monogenic disease for common disease // Hum. Mol. Genet V. 15. Review Issue 1. R67ｨCR ｨｪ ｨｦ0000ｨ 04ｨ ｨｬ ｨｹ01ｨｬｨｪｨｦ05