GenRus10_08LebedevLO

Transcription

1 ｨｪｨ 0102, 2008, , 6ｧ8 10, ｨC1373 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 ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ : ｨ 06ｨ ｨ ｨｹ, ｨｨｨｺｨ ｨｮｨ ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ, 0505ｨｹｨ ｨｲ ｨｪ ｨｦ09 ｨｨ02ｨｪｨｦ00ｨｦ07ｨ ｨ , ｦ ｦ0 046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] ｨｨ ｦ0 6 5 apple00 6ｦ0010ｷ3090ｸ ｸ apple ｨC 0ｹ ｹ , 036ｦ0apple6ｦ apple ｸ90ｸ fl ｦ ｹ apple ｦ apple apple fl flapple00040ｸ ｦ ｹ apple ｦ fl0ｸ ｦ ｸ ｦ00ｷ ｸ , ｦ0006ｦ ｦ000030ｸ800 08apple apple006 56ｦ ｸ ｦ apple0309apple076 56ｦ00009fl apple ｦ ｦ apple086ｦ00009fl 006ｦ0 apple6ｦ ｹ0000ｸ803 0ｹ1036ｦ0086ｦ ｦ0, 6 50ｸ ｦ000000ｸ800 6ｦ0 00appleapple6ｦ ｸ ｹ ｹ ｦ00ｷ309fl apple07036ｦ ｦ0, 08apple ｸ ｦ0apple fl ｦ ｦ apple076 56ｦ00009fl , fl6 502fl0ｸ90306fl apple ｦ00ｷ ｹ apple apple076 56ｦ000000ｸ ｦ ｦ fl0ｸ apple00 apple6ｦ ｦ003apple096 56ｦ fl apple 0ｹ ｦ0-0ｷ apple apple076 56ｦ000000ｸ , 08apple fl ｦ ｦ00ｷ309fl, 6ｦ0 036ｦ ｦ00ｸ90306fl ｸ800 08apple090ｹ009000ｸ fl 09 apple ｹ ｦ ｸ ｦ ｦ ｹ ｦ0. ｨｪapple6ｦ0 090ｷ ｦ apple6ｦ apple6ｦ ｦ0 07 ｨBfl0600fl000306fl 0ｹ000apple ｹ apple6 5090ｹ apple apple0ｸ ｸ ｨｦ 006ｦ apple0003fl ｦ0016ｦ ｦ00ｸ90306fl 6ｦ000000ｸ800, ｸ90ｸ , 0ｹ apple ｸ ｦ ｹ ｹ apple ｦ ｦ0apple096ｦ00ｷ apple apple apple6 76ｦ ｦ00ｷ apple07-036ｦ ｦ0, 0708apple fl0ｸ90ｸ ｦ , 006ｦ008apple , ｦ fl fl apple04-0ｸ90ｸ ｦ [1ｨC3]. ｨｪ6ｦ ｦ0apple096ｦ00ｷ30909, ｹ ｦ ｦ ｹ ｦ00ｷ30906 [4], 08apple ｦ06 502fl- 0ｸ ｦ003070ｹ apple apple , 096ｦ003apple6ｦ ｦ00ｸ90ｸ ｹ apple ｸ apple apple076 56ｦ CpG ｦ , ｦ ｸ ｦ00ｷ (6ｦ00ｷ apple076 56ｦ , apple076 56ｦ , apple090209apple076 56ｦ , apple076 56ｦ ), 6ｦ ｦ0020ｸ803 apple fl0307apple000ｸ apple0200apple09apple040ｸ90ｸ70903 ｨｺ ｸ ｦ0010ｷ apple ｦ ｷ ｦ ｹ apple6ｦ apple6ｦ00909fl, ｦ fl ｦ ｦ00009fl 0ｹ ｦ00ｷ ｸ8090ｸ86 56ｦ ｦ00ｹ ｸ apple0006. ｨｨ apple0ｸ803 08apple fl03, 0ｹ06ｦ ｦ0 0ｹ ｦ00ｷ ｦ ｨC 6 56ｦ0 0807applefl 016ｦ0 08apple006 50ｸ8046ｦ ｹ06ｦ ｸ ｦ00ｷ30906 [5], 6ｦ ｦ ｦ ｦ ｸ ｹ , ｹ ｹ ｦ0, ｦ ｦ fl ｷ ｸ803. ｨｦ ｸ ｸ fl ｦ00009fl 0ｹ ｦ00ｷ30906 fl6 502fl000306fl ｸ apple , 08apple ｦ06 502fl0ｸ90ｸ ｹ ｹ , ｹ ｦ00ｸ90ｸ ｦ ｸ9 0ｹ apple ｸ ｦ apple apple fl [6] flapple apple- 086ｦ00009fl 036ｦ ｹ apple fl6 502fl000306fl apple00000ｷ3096ｦ apple076 56ｦ apple apple000ｸ803 apple apple apple076 56ｦ000000ｸ apple fl0307apple000ｸ ｦ , 036ｦ ｦ0090ｸ86 56ｦ000030ｸ803 0ｷ apple apple ｦ0 (09ｨ ), 006ｦ0 apple6ｦ009000ｸ803 apple fl03 03apple ｦ ｸ apple ｦ ｹ ｦ fl ｦ00ｷ309fl ｦ ｸ9 036ｦ0020ｸ803 apple fl0307apple000ｸ803 ｨｺ apple00000ｷ3096ｦ apple076 56ｦ apple apple076 56ｦ000000ｸ ｨ 0207apple0309apple fl ｸ ｦ003 apple apple6ｦ000fl000306fl ｦ003090ｹ ｦ ｦ0, 016ｦ001 08apple6ｦ , 006ｦ0 08apple0703fl ｦ ｦ fl apple076 56ｦ ｦ fl apple apple076 56ｦ ｦ0 036ｦ0apple6ｦ apple ｹ apple , ｦ0 016ｦ apple076 56ｦ000000ｸ800 6ｦ fl6 502fl0ｸ90306fl ｷ ｦ ｦ ｸ ｨｴ ｦ00ｷ30909 (006ｦ0apple fl 06036ｦ ｦ apple076 56ｦ00009fl ｨC 016ｦ ｦ0apple096ｦ ) apple apple6ｦ ｹ ｸ ｸ apple apple076 56ｦ ｦ ｹ06ｦ apple076 56ｦ00009fl 00006ｦ apple0300 6ｦ fl, ｦ0 016ｦ apple apple076 56ｦ ｦ ｦ fl, 006ｦ008apple , 6 50ｸ apple ｦ ｦ ｨｦ0ｹ , 0ｹ apple 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｦ ｦ0 ( apple apple076 56ｦ ｦ ｦ0 036ｦ00300apple ｷ ｦ003) 07016ｦ0090ｸ86 56ｦ fl apple , 0ｹ fl 096ｦ ｹ apple apple040ｸ90ｸ fl ｦ apple apple fl apple076 56ｦ apple apple apple ｦ0, ｹ ｦ00ｷ apple6ｦ000090ｹ000000ｸ apple apple076 56ｦ ｦ fl0ｸ ｦ00009fl ｨC apple6ｦ apple apple6ｦ0 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｹ ｦ0 (006ｦ0 04apple ｦ ｦ0 1356

2 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ apple076 56ｦ00009fl ), 6 56ｦ0apple096ｦ ｦ ｦ00ｷ30909, ｷ3096ｦ ｸ ｦ apple090ｹ fl, 6ｦ0 036ｦ apple ｹ applefl 6ｦ0 006ｦ ｸ ｦ ｦ ｨｦ030002ｨｹ 0702ｨｺ0201ｨｪ00ｨｺｨ 05ｨｪｨ 0102 ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ 09 ｨ ｨ ｨ 02ｨｦ05 ｨ 07 05ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ ｨｨapple ｹ apple apple6ｦ apple ｸ9 apple6ｦ apple6ｦ00909fl 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ , , 0ｹ apple apple6ｦ00304apple00 08apple apple6ｦ ｹ06ｦ apple6 5090ｹ0000ｸ apple090ｹ0000ｸ800 0ｹ ｦ00ｷ30909 [5]. ｨｨ00apple6 5090ｹ0000ｸ800, ｰ ｸ800 ｱ, 0ｹ ｦ00ｷ apple ｦ06 502fl0ｸ apple ｸ ｦ00ｷ ｦ ｦ apple076 56ｦ00009fl apple fl0307apple000ｸ ｦ00603fl ｦ0, 08apple fl0ｸ fl ｹ apple ｦ0apple fl apple040ｸ90ｸ ｦ apple090ｹ0000ｸ800 0ｹ ｦ00ｷ ｦ ｦ0- apple6ｦ apple ｸ90306fl 6ｦ0 00appleapple6ｦ ｸ ｦ00ｷ309fl apple07036ｦ ｦ0, ｦ ｹ fl ｸ8 cis trans ｦ00ｷ309fl apple ｦ003, apple070209apple04-0ｸ90ｸ ｹ ｹ ｸ9 07apple6 76ｦ ｦ00ｷ3090ｸ9. ｨｨapple090300apple6ｦ apple090ｹ0000ｸ803 0ｹ ｦ00ｷ30906, 066 5fl096ｦ000000ｸ cis-0ｹ ｦ00309, fl6 502fl0ｸ90306fl apple apple076 56ｦ CGG apple FMR1 08apple ｹ apple apple ｦ0apple ｦ0ｨC [7] apple076 56ｦ ｦ apple6ｦ0 D4Z apple apple6ｦ apple ｸ ｹ ｦ ( ) 08apple09 6ｦ ｦ apple ｨC 02090ｷ ｹ ｦ003070ｹ apple [8]. 046ｦ flapple apple090300apple0703 trans-0ｹ fl6 5-02fl000306fl 6 7apple ｦ0 03apple07036ｦ ｸ ( apple07030ｸ8 ICF, ｨｺ ｦ0, ｦ0ｨC006ｦ004apple09, ｨｺ ｦ0ｨCｨｪ applefl apple ), ｸ ｦ00ｷ309fl ｦ003, apple040ｸ90ｸ apple ｸ8, 040ｹ06ｦ ｸ90ｸ ｹ ｹ apple0007apple6 76ｦ ｦ00ｷ apple07036ｦ ｦ0 [9]. ｨｦ0ｹ , 0ｹ apple090ｹ0000ｸ803 0ｹ ｦ00ｷ ｦ ｦ00ｷ ｦ003, 08apple ｸ apple0ｸ apple apple040ｸ903 03apple6ｦ apple09080ｷ ｸ9 6ｦ apple07036ｦ ｦ0. ｨｨ070ｹ ｹ06ｦ ｦ apple090ｹ0000ｸ803 0ｹ ｦ00ｷ ｦ ｦ0 06 0ｹ06ｦ ｸ ｦ00ｷ ｹ fl 08apple ｸ903, 016ｦ001 08apple6ｦ , ｦ003 07apple6 76ｦ ｦ0. 050ｸ806016ｦ0090ｸ86 56ｦ fl 08apple , 0ｹ ｹ apple090ｹ0000ｸ apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｦ apple6ｦ ｸ ｹ06ｦ [5]. 01apple , 0800apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｸ apple6ｦ000090ｹ000000ｸ ｸ ｦ ｦ000fl apple6 76ｦ ｦ0, 0ｹ ｦ0-03apple04 00fl ｦ00ｷ3090ｸ9 ( ｷ ｹ06ｦ ｸ8) ｦ00003, 6 5 applefl ｹ06ｦ0006 5, fl ｹ apple07fl ｨｨ00apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ30909, ｦ0apple04046ｦ0fl ｦ , fl0ｸ apple6ｦ00ｷ3090ｸ9 03apple07036ｦ ｦ0, apple0ｸ ｦ fl apple6ｦ apple09080ｷ ｦ ｦ fl ｨｬ ｦ0-0ｸ90ｸ ｹ ｹ ｦ ｹ apple apple ｦ fl apple076 56ｦ ｷ ｸ ｦ ｦ CpG apple apple- 000ｸ803 apple ｦ apple076 56ｦ000000ｸ80309 apple ｦ00309 (CpG apple ｦ00309) ｦ ｸ ｷ fl090ｸ86 56ｦ00ｸ90ｸ , apple0ｸ ｸ ｹ ｹ06ｦ ｦ001apple flapple000ｸ apple ｦ ｸ ｸ8, 0ｹ apple0309apple040003, ｹ , 03apple6ｦ apple09080ｷ ｦ ｸ9 0603apple apple04 03apple07036ｦ ｦ apple076 56ｦ ｸ fl0ｸ apple6ｦ apple6ｦ0090ｸ8, 016ｦ0036ｦ apple040ｸ90ｸ apple apple ｸ8 06 S-6ｦ ｦ0 006ｦ ｦ ｷ ｦ0 6 5 CpG ｦ fl03. ｨｨ07 apple apple6ｦ apple ｸ apple ｦ fl apple076 56ｦ00009fl apple0309apple076 56ｦ00009fl 03apple6ｦ apple09080ｷ ｦ ｸ803 03apple07-036ｦ ｸ fl0ｸ70000 applefl apple ｹ ｦ0apple apple6ｦ00304apple00 [9ｨC13]. ｨｨapple09 6ｦ0006ｦ ｹ ｦ00ｷ ｹ009030ｸ86 56ｦ ｹ ｸ ｷ ｹ ｹ ｹ apple070ｷ ｦ0 apple6ｦ009000ｸ803 0ｹ1036ｦ0086ｦ ｦ apple6ｦ fl 07apple6 76ｦ ｦ0. 046ｦ ｦ00ｹ009030ｸ fl 0ｹ ｹ apple6 76ｦ ｦ00ｷ ｦ0 08apple fl03 08apple apple006 56ｦ ｸ ｦ0 apple6ｦ ｹ1036ｦ0-086ｦ003 08apple ｦ000036ｦ00ｷ apple6ｦ fl ｦ00ｸ90ｸ70903 [14] ｦ apple000ｸ ｦ ｸ ｦ0apple6ｦ apple6ｦ apple ｦ00009fl ｦ ｹ apple0907 0ｸ ｦ ｹ009026ｦ0 006ｦ ｦ ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ00009fl (apple ). ｨｦ ｦ00ｹ009006ｦ fl apple090307apple 096ｦ ｸ ｸ ｦ003 08apple ｦ0 0ｸ apple076 56ｦ000090ｸ apple6 76ｦ00ｸ90306fl 016ｦ apple apple076 56ｦ000000ｸ800, 036ｦ apple apple076 56ｦ000000ｸ ｸ ｦ0. ｨｪ6ｦ apple6ｦ ｹ ｹ apple036ｦ00ｷ fl ｹ fl ｸ , 6ｦ0 036ｦ , , 09 02fl 04 6ｦ fl 6ｦ0 00appleapple6ｦ ｸ803 0ｹ apple076 56ｦ fl apple07036ｦ ｦ apple6ｦ000fl000306fl 006ｦ0 0800apple ｦ ｦ ｸ ｦ ｦ ｦ ｦ003. ｨｨapple ｹ fl apple036ｦ ｦ ｦ fl 08apple070ｷ ｦ fl apple076 56ｦ00009fl de novo, apple0ｸ ｸ9 096ｦ06 500apple046ｦ fl ｦ ｦ ｸ ｦ0 I ｷ309036ｦ ｦ apple076 56ｦ00009fl 006ｦ00ｹ009006ｦ fl apple apple006 56ｦ00009fl ｦ06 500apple046ｦ fl ｦ ｦ0026ｦ0090ｸ8 II. 01apple , 08apple apple006 56ｦ ｸ apple ｦ apple076 56ｦ apple apple076 56ｦ000000ｸ ｨｨ apple000009fl 006ｦ00ｹ009006ｦ fl apple6ｦ0fl ｦ0 apple0008apple076 7apple6ｦ apple076 56ｦ00009fl, apple6ｦ0fl 096ｦ003apple6ｦ ｦ ｦ003090ｹ ｨｦ030ｷ apple ｸ apple040ｸ90306fl, 08apple07036ｦ ｸ ｦ apple07036ｦ ｦ0 096ｦ ｸ76ｦ00ｸ90306fl 006ｦ ｸ ｦ ｦ fl 0ｸ80603apple0700 6ｦ apple076 56ｦ ｷ ｦ0. 026ｦ00300apple apple000300apple ｦ apple09 0ｹ ｦ apple076 56ｦ ｨｨ , apple ｦ ｦ00ｷ30909, 096ｦ ｦ fl 08apple070ｷ apple076 56ｦ00009fl de novo, apple0ｸ apple apple0309apple076 56ｦ000090ｸ ｷ ｹ0000ｸ803 apple apple076 56ｦ00009fl ｸ ｦ00603fl ｦ0 6 5 apple6ｦ ｹ0000ｸ ｦ003. ｨｴ apple070ｷ ｹ ｦ ｦ ｷ ｹ ｹ apple fl6 502fl fl ｸ90ｹ ｸ ｦ ｹ apple00000ｷ309apple ｦ , 0ｹ apple apple076 56ｦ000000ｸ ｸ ｦ00ｸ903

3 , 056ｦ ｦ0 1 2 [2] 3 4 ｨｬapple CpG apple076 56ｦ00009fl ｨｨapple090307apple 096ｦ ｸ ｸ G ｨ 0308apple apple076 56ｦ000000ｸ ｸ8 ｨｴ03 apple ｨｪapple07020ｹ apple036ｦ apple6ｦ00ｷ309fl ｨｺ ｨｦ apple apple ｨ ｦ000036ｦ00ｷ309fl apple00000ｷ309apple ｦ0 05apple0003fl ｨｺ ｨｴ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ ｦ0. 036ｦ00300apple ｷ ｸ8; 036ｦ00300apple ( apple apple076 56ｦ000000ｸ ｸ8); 07030ｷ ( apple apple076 56ｦ000000ｸ ｸ8); 036ｦ00300apple ｦ apple apple076 56ｦ000000ｸ ; 07030ｷ ｦ apple apple076 56ｦ000000ｸ apple6ｦ ｦ00ｹ000000ｸ8 01apple ｹ apple0907 0ｸ8 apple0008apple076 7apple6ｦ apple076 56ｦ00009fl apple apple076 56ｦ000000ｸ : 1 ｨC apple6ｦ apple ｦ apple090307apple- 096ｦ ｸ ｸ ｦ003; 2 ｨC 096ｦ ｷ ｹ apple ｦ ｦ ｦ003; [2] ｨC ｹ apple apple0309apple076 56ｦ00009fl apple ｦ apple0ｸ ｦ ｦ0 apple6ｦ ｹ1036ｦ0086ｦ ｹ apple6ｦ fl; 3 ｨC ｹ apple086ｦ apple ｦ0; 4 ｨC apple086ｦ apple ｦ fl 096ｦ0apple07 0ｸ ｸ ｹ ｸ8 apple0008apple076 7apple6ｦ apple076 56ｦ00009fl ｦ003090ｹ ｦ003, apple6ｦ000flfl apple00000ｷ3096ｦ ｸ806 apple apple076 56ｦ00009fl, 006ｦ ｦ000000ｸ apple ｦ0apple fl 0ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ0-0009fl ( apple076 56ｦ00009fl 016ｦ , 006ｦ008apple , 6ｦ0 00appleapple6ｦ apple076 56ｦ ｹ06ｦ ｦ0, apple0ｸ apple ｸ apple6 76ｦ fl apple076 56ｦ000090ｸ9 016ｦ ｦ ｦ003, 036ｦ ｦ003090ｹ ｦ003) ｦ0090ｸ86 56ｦ ｸ fl ｦ0 0ｹ apple ｸ ｹ apple ｦ , 036ｦ ｹ ｦ00ｷ30909, ｦ0 apple6ｦ ｹ1036ｦ0086ｦ003 apple6ｦ fl 000ｸ fl , ｷ3096ｦ ｸ apple00 6ｦ0000ｸ ｸ9-0ｸ ｸ9 08apple , 0ｹ ｦ fl ｹ ｸ apple0008apple076 7apple6ｦ apple076 56ｦ000090ｸ ｸ ｦ fl ｹ apple0ｸ ｦ ｸ90ｹ06ｦ00ｸ ｹ ｦ ｦ0-0009fl 0ｹ ｦ00ｷ applefl [1, 2, 15, 16] ｨ 06ｨ ｨ ｨｹ ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ 09 ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ05 ｨｨapple ｦ0fl ｦ apple6ｦ apple ｸ ｸ fl 07 0ｹ ｹ ｦ00ｷ309fl ｦ0, apple6ｦ apple6ｦ ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ apple ｦ06 502fl000306fl ｸ ｦ apple ｦ ｸ90ｸ ｦ00309: ｦ ｦ00ｷ309fl 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｦ003apple6ｦ ｦ000030ｸ ｦ ｨｴ ｦ00ｷ30909, 6 50ｸ8090ｸ86 56ｦ00ｸ90ｸ ｦ ｸ ｦ0- apple fl apple ｦ0 006ｦ0 04apple ｷ ｦ ｨｴ ｦ00ｷ ｷ apple6ｦ apple ｦ ｨｴ ｦ00ｷ ｸ apple apple076 56ｦ ｸ ｦ ｦ ｦ00ｷ309fl 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ apple ｸ ｦ ｹ ｹ ｦ00ｷ30909: ｨｦ apple6ｦ00009fl apple ｦ apple0003fl 6 76ｦ ｦ0 ｨC apple6ｦ ｸ apple apple apple fl0307apple000ｸ ｦ00603fl apple apple076 56ｦ000000ｸ (01apple ｹ apple ｦ0 apple ) ｨｦ ｦ apple ｦ ｦ (01apple ｹ apple ｦ0 apple ): ｨｦ apple076 56ｦ00009fl 6ｦ apple apple076 56ｦ000000ｸ , apple0ｸ apple ｸ apple6 76ｦ fl apple076 56ｦ000090ｸ apple036ｦ ｦ ｷ309036ｦ appleapple6ｦ apple076 56ｦ ｦ apple apple076 56ｦ000000ｸ , apple0ｸ ｸ apple6 76ｦ fl apple076 56ｦ000090ｸ apple036ｦ ｦ ｷ309036ｦ ｦ003090ｹ ｹ ｦ00ｷ30909:

4 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ ｦ0apple fl 096ｦ00ｸ709030ｸ apple076 56ｦ000000ｸ ｹ apple apple ｸ803 6ｦ apple apple076 56ｦ000000ｸ apple076 56ｦ00009fl ｦ003090ｹ ｦ003 08apple09 0ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ (01apple ｹ apple ｦ0 apple ) appleapple6ｦ apple apple076 56ｦ ｹ apple apple ｸ803 6ｦ apple apple076 56ｦ000000ｸ ｦ fl de novo apple076 56ｦ00009fl ｦ0 08apple ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ ｦ003090ｹ ｦ003 (01apple ｹ apple ｦ0 apple ) apple apple076 56ｦ ｹ apple apple ｸ803 6ｦ apple apple076 56ｦ000000ｸ ｦ003090ｹ ｦ003 (01apple ｹ apple ｦ0 apple ) apple076 56ｦ ｹ apple apple ｸ803 6ｦ apple apple076 56ｦ000000ｸ ｦ003090ｹ ｦ003 (01apple ｹ apple ｦ0 apple ) ｦ ｦ00ｷ309fl 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｷ ｦ ｦ00ｹ apple076 56ｦ ｦ ｦ00300apple ｦ fl apple apple076 56ｦ ｦ apple076 56ｦ ｦ ｷ ｦ fl apple apple076 56ｦ ｦ apple apple076 56ｦ ｦ ｦ00300apple ｦ fl apple apple076 56ｦ ｦ apple apple076 56ｦ ｦ ｷ ｦ fl apple apple076 56ｦ ｦ ｦ ｷ300 08apple ｦ apple apple ｹ ｸ803 0ｹ ｦ00ｷ30906, ｦ000000ｸ ｦ ｦ00ｷ apple apple apple ｸ ｦ ｦ00ｷ30906, 09 08apple ｸ8 08apple090300apple0ｸ8 006ｦ ｸ ｹ ｦ ｦ , 6 5 0ｹ apple0ｸ803 0ｸ8026ｦ ｦ0-096ｦ0006ｦ0 apple ｦ0apple ｦ0apple6ｦ apple6ｦ apple076 56ｦ00009fl apple apple076 56ｦ000000ｸ ｹ apple090300apple0ｸ ｸ ｦ , ｸ9-0ｸ ｦ ｦ00ｷ ｹ ｦ00ｷ ｦ003apple6ｦ ｦ000030ｸ ｦ ｦ0. ｨｴ ｦ00ｷ apple ｦ0 006ｦ0 04apple ｦ0 ｨｨapple090300apple0703 0ｹ ｦ00ｷ30906, 006ｦ0apple04046ｦ00ｸ90ｸ ｦ apple apple076 56ｦ000000ｸ , fl6 502fl000306fl 09apple ｸ ｸ8apple000ｸ ｦ (03ｨｨｨｨｨ, BiCHM ｨC Biparental Complete Hydatidiform Mole) [17]. 016ｦ , 01026ｦ ｹ ｸ ｸ8apple000ｸ ｦ apple6ｦ ｦ fl 08apple09 006ｦ002090ｹ ｷ apple fl (6ｦ000 apple ｹ ｦ0fl fl) [18]. ｨｪ6ｦ ｦ0apple apple0309apple fl 08apple apple fl060ｷ , 0403apple6ｦ , 6 76ｦ ｸ apple036ｦ ｸ90ｸ ｦ00ｷ ｷ ｦ apple006ｦ ｸ ｦ fl6 502fl030006fl apple apple ｷ309036ｦ0, apple ｦ0 07apple6ｦ ｦ ｦ apple006 76ｦ00ｷ apple flapple000ｸ ｷ36ｦ , 0ｹ apple09 036ｦ ｦ0apple ｦ0apple04046ｦ fl 6ｦ0026ｦ ｸ apple apple076 56ｦ000000ｸ ｷ ｦ00300apple apple fl: 0ｹ apple fl 07030ｷ ｦ ｹ ｦ fl apple6ｦ0-096ｦ0, ｦ0 016ｦ001 08apple ｸ apple apple076 56ｦ000000ｸ , 0ｹ apple apple040ｸ90ｸ fl ｸ90ｹ ｦ00300apple ｦ , ｸ ｹ000096ｦ00ｸ ｹ apple ｹ06ｦ0fl03 ( apple000ｸ ｸ8apple000ｸ ｦ ｸ ｸ ｹ06ｦ009 0ｹ ｦ ) ｹ0006ｦ0fl 016ｦ0apple ｦ ｦ apple fl apple6ｦ ｦ fl 09 08apple apple036ｦ apple ｦ0apple ｸ8. ｨｬ06036ｦ , 0ｹ ｹ ｹ06ｦ0fl03 08apple ｦ0apple ｦ0apple6ｦ apple6ｦ apple076 56ｦ00009fl apple apple076 56ｦ000000ｸ ｦ0 apple6ｦ ｸ ｦ00300apple apple ｦ003. ｨｪ6ｦ001, apple00000ｷ309-6ｦ apple076 56ｦ000000ｸ800 apple6ｦ ｸ apple apple076 56ｦ ｸ KCNQ1OT1, PEG1, PEG3/ZIM2, SNURF-SNRPN, 0ｹ apple apple000ｸ ｹ06ｦ NESPAS/XLｦﾁ S ｦ0 GNAS1, apple076 56ｦ000000ｸ apple ｦ0 036ｦ00300apple apple ｦ003, 08apple09 03ｨｨｨｨｨ 07016ｦ0090ｸ86 56ｦ00ｸ90306fl apple076 56ｦ fl [19, 20]. 050ｸ806016ｦ0090ｸ86 56ｦ fl 08apple , 0ｹ ｨｨｨｨｨ apple6 5090ｹ0000ｸ ｹ ｦ00ｷ309fl0309, 6ｦ ｦ ｸ ｦ0apple apple076 56ｦ00009fl apple apple076 56ｦ000000ｸ ｷ309036ｦ ｦ00300apple09 ( , ｦ ｨC ｦ ｦ00ｷ ｹ ｦ00ｷ30906) [17]. 026ｦ00300apple ｦ apple apple076 56ｦ000000ｸ apple0907 apple00036ｦ00ｸ ｷ ｹ ｦ003apple6ｦ ｦ000030ｸ ｷ ｦ ｦ fl ｹ ｦ ｦ ｦ000090ｸ ｦ ｷ36ｦ0, 016ｦ001 08apple ｦ ｹ ｸ8apple ｦ (apple ) apple0003fl 6ｦ0006ｦ apple ｸ ｨｨｨｨｨ 04016ｦ0-090ｸ86 56ｦ ｦ0 6ｦ apple000ｷ ｸ ｦ0apple6ｦ apple 6ｦ ｦ [17]. ｨｨapple ｦ06 76ｦ fl, 0ｹ ｨｨｨｨｨ ｦ ｦ00ｷ ｦ , ｸ ｦ ｦ apple ｦ ｨｦ ｦ ｦ ｦ003000ｸ ｸ8 0ｸ ｸ apple6ｦ apple6ｦ009, ｦ apple076 56ｦ ｸ8fl ｹ ｸ ｦ00ｷ ｨｨ ｸ90ｸ ｸ ｦ00009fl ｦ ｷ ｨｨｨｨｨ 06 apple q13.42, apple ｸ , 0708apple fl0ｸ90ｸ70906 apple6ｦ ｦ ｦ , ｦ ｦ0apple ｨｨapple ｦ06 502fl000306fl apple ｸ803, 0ｹ apple ｷ309apple076 56ｦ000000ｸ803 0ｹ apple apple040ｸ90ｸ fl 03apple6ｦ apple ｹ apple apple SET , 08apple ｸ9-0ｸ ｸ apple ｦ06 76ｦ000030ｸ ｸ apple6ｦ apple6ｦ009, ｦ ｹ ｸ ｦ00ｷ apple040ｸ90ｸ70903 apple ｦ apple6ｦ apple6ｦ ｸ ｨｨｨｨｨ 036ｦ ｸ ｦ0apple ｸ8. ｨｪ6ｦ apple6ｦ , ｦ fl ｸ ｸ90ｹ , 0ｹ apple ｸ8apple- 000ｸ ｦ ｦ0096ｦ fl apple ｦ apple6 5090ｹ0-000ｸ803, 6ｦ apple090ｹ0000ｸ803 0ｹ ｦ00ｷ trans-0ｹ ｨｴ ｦ00ｷ ｷ apple6ｦ apple ｦ apple apple076 56ｦ000000ｸ ｹ ｦ0 apple6ｦ ｸ ｦ apple6ｦ ｦ fl0306fl ｸ apple ｨ, apple0ｸ fl6 502fl fl apple ｸ apple076 56ｦ00009fl.

5 , 056ｦ ｦ apple 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｹ ｦ0 076ｦ ｹ ｹ ｦ00ｷ ｦ003090ｹ ｹ ｦ00ｷ30909 ｨｪ0908 0ｹ ｦ00ｷ30906 ｨｦ apple6ｦ00009fl apple ｦ apple6ｦ ｸ ｹ06ｦ (01ｨｨ-1) ｨｦ apple076 56ｦ00009fl 6ｦ , apple0ｸ ｸ apple6 76ｦ fl apple076 56ｦ000090ｸ9 (01ｨｨ-2) 02 00appleapple6ｦ apple076 56ｦ ｦ , apple0ｸ ｸ apple076 56ｦ fl (01ｨｨ-2) 046ｦ0apple ｦ00ｸ709030ｸ apple ｦ000000ｸ803 (00000ｹ apple apple ｸ803) 6ｦ apple076 56ｦ00009fl 08apple09 apple0008apple076 7apple6ｦ apple076 56ｦ ｦ0 (01ｨｨ-3) ｦ ｹ ｹ ｦ00ｷ ｦ003090ｹ ｦ003 (01ｨｨ-4) 02 00appleapple6ｦ apple076 56ｦ appleapple6ｦ apple apple076 56ｦ ｦ00300apple ｦ fl 07030ｷ ｦ fl 036ｦ00300apple ｦ fl 07030ｷ ｦ fl ｨC ｨC IGF2/H19 09ｨ -05ｨｨ05 (050503) (05ｨｨ05); PEG1/MEST (05ｨｺ05) 03ｨｨｨｨｨ ; IGF2/H19 ｨC ｨC 09ｨ -05ｨｨ05 (05ｨｴ); (05ｨｺ05) LIT1 (050503, ｨｪ040505); ZAC (ｨｪ040505, ) ｨC ｨC IGF2/H19 (050503) 09ｨ -05ｨｨ05 ( ｦ0090ｹ0-000ｸ ｦ0apple096ｦ000030ｸ8 05ｨｴ); ｰ apple ｦ00300apple apple ｦ00009fl ｱ ( ｦ0090ｹ0000ｸ ｦ0apple096ｦ000030ｸ8 ｨｪ040505) LIT1 (016ｦ0apple0ｷ ｦ ｸ ｦ0, apple6ｦ ｹ ); PEG3 (0307apple ｦ0apple- 0ｷ ｦ0) ｨｮ6ｦ ｹ apple076 56ｦ IGF2/H19 (05ｨｺ05) P73 (016ｦ0apple0ｷ ｦ ｹ00001, apple6ｦ ) 09ｨ -05ｨｨ05 (05ｨｨ05); PEG1/MEST (05ｨｺ05) ｨC ｨC IGF2/H19 (0409apple apple ｨC ); P73 (070603apple6ｦ0fl fl, ｦ0 0300apple ｦ0); GTL2 (016ｦ0apple0ｷ ｦ ｹ00001) 09ｨ -05ｨｨ05 ( ｦ0-090ｹ0000ｸ ｦ0apple096ｦ000030ｸ8 05ｨｨ05); PEG3 (apple6ｦ ｦ ｹ apple09fl); ZAC (apple6ｦ001 fl090ｹ ) ｨｨapple ｹ06ｦ ｨｨapple070ｹ000apple ｦ00ｹ06ｦ00003, 0ｹ ｦ ｦ ｦ00ｷ ｸ ｨｨ ｨC 01apple ｹ apple0907 0ｸ apple apple ｦ00304apple6ｦ apple apple6ｦ apple076 50ｸ86 56ｦ fl ｨ apple076 56ｦ ｦ apple ｦ apple0309apple076 56ｦ ｷ ｹ apple076 56ｦ00009fl ｹ000000ｸ ｦ , 0701apple04086ｦ00ｸ90ｸ ｨ, ｸ ｨｨ00apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｦ0 04apple ｦ apple6ｦ apple apple076 56ｦ000000ｸ ｦ003apple6ｦ ｦ00ｸ903 09ｨ, apple0ｸ ｹ ｹ06ｦ0fl apple6 76ｦ fl , apple apple076 56ｦ000090ｸ ｹ ｦ ｸ8 6 56ｦ0 01apple ｸ ｦ apple6ｦ apple apple076 56ｦ000000ｸ ｨC 0ｹ apple090ｷ apple070300apple006ｦ0fl ｦ ｹ06ｦ0 03apple ｸ8 15 (15q11-q13) apple000ｸ806 apple apple ｹ06ｦ0 03apple ｸ8 11 (11p15.5) ｦ apple 006ｦ0 03apple apple apple apple076 56ｦ000000ｸ ｦ [ *. ｨｮ6ｦ apple6ｦ apple09 09apple fl ｷ apple ｸ8 (MKRN3, MAGEL2, NDN, SNURF-SNRPN, HBII-436, HBII-13, HBII-437, HBII-438A, PWCR1, HBII-52, HBII-438A, UBE3A-AS) apple00 apple6ｦ ｦ06 76ｦ00ｸ90306fl 6 56ｦ0 apple ｦ0 (UBE3A 09 ATP10A), 0ｹ apple apple040ｸ90ｸ fl apple0ｸ ｦ000fl03 08apple ｹ ｦ00300apple apple ｸ8 [21] ｦ00ｷ apple apple076 56ｦ000000ｸ q11-q13 fl6 502fl0ｸ90306fl 0ｹ ｹ apple ｨｨapple6ｦ0 00apple6ｦ0ｨC * 016ｦ0036ｦ apple apple076 56ｦ000000ｸ apple ｹ ｹ ｦ ｸ (05ｨｨ05, MIM ) 09 ｨｴ ｦ0006ｦ0 (05ｨｴ, MIM ) ** ｹ06ｦ ｹ ｦ ｦ00009fl 6 50ｸ8090ｸ86 56ｦ00ｸ90306fl apple ｷ309fl ｦ apple6ｦ apple apple076 56ｦ000000ｸ ｦ ｷ ｦ00300apple , apple ｦ ｦ apple ｸ ｦ00300apple ｷ36ｦ0. ｨｦ 006ｦ apple ｹ06ｦ0fl03 08apple090ｹ009006ｦ00309 apple6ｦ fl apple ｦ fl0306fl ｦ00ｷ30909 ( ｹ ｹ ｦ00ｷ30909) 6 5 0ｷ apple6ｦ apple ｦ0. 09ｨ apple ｦ0 15q11-q13 (SNURF-SNRPN) 006ｦ fl apple apple ｦ ｦ0 SNRPN apple ｦ0 apple fl0307apple000ｸ803 0ｹ ｦ0 ｨC 09ｨ -05ｨｨ05 apple6ｦ apple , apple6ｦ ｸ806 0ｷ apple070300apple ｦ , 09ｨ -05ｨｴ apple6ｦ apple [22]. ｨ ｷ309fl 096ｦ001020ｸ90ｹ06ｦ fl apple ｸ90ｹ ｦ ｦ ｹ ｦ0 006ｦ ｦ007 07apple0703, ｦ ｦ ｦ0, 6ｦ0 036ｦ apple086ｦ ｦ ｦ fl0009fl apple apple076 56ｦ000000ｸ ｦ0 08apple0703fl ｦ0. ｨｨ07016ｦ0096ｦ00007, 0ｹ ｦ003090ｹ ｦ003 09ｨ -05ｨｨ ｨ -05ｨｴ ｦ0 6ｦ00ｸ apple0000- ** OMIMｨCOnline Mendelian Inheritance in Man ｨC ｨ apple apple0609fl 016ｦ0036ｦ ｦ0 006ｦ ｸ ｹ ｦ apple00 6ｦ0010ｷ apple6ｦ0 026ｦ ｸ ｦ apple0ｸ ｦ003 08apple ｦ0096ｦ apple ｸ apple04 096ｦ ｦ00009fl ｦ0036ｦ

6 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ ｨｴ ｸ8 apple (ｨｺ1, ｨｺ2) apple6ｦ apple ｹ ｨ 6ｦ apple ｦ ｦ ｦ003 apple ｨｴ ｸ ｦ0 (F1) 0407apple036ｦ0 ｨｦ 0007apple ｸ ｸ8apple000ｸ ｦ apple ｸ ｸ8apple000ｸ ｦ ｨ -05ｨｴ fl 096ｦ apple ｦ0 6 5 apple q11-q ｷ apple fl ｹ ｸ9 0ｹ ｹ ｦ0apple0109apple ｦ00300apple apple ｸ , 04006ｦ ｦ ｦ001040ｸ9 03apple , ｦ0apple ｦ00ｸ903 08apple ｦ ｨｴ. 056ｦ apple apple6ｦ ｦ ｦ ｦ0apple6ｦ apple fl ｸ ｦ , apple000ｹ009, apple ｸ apple0ｸ ｸ ｸ fl0309, 0ｹ06ｦ006030ｸ ｦ000000ｸ apple ｦ ｦ0. ｨｨ fl0ｷ ｦ0fl 0ｹ06ｦ ｦ apple07036ｦ ｦ06 502flｨｺ ｹ ｹ ｹ ｦ ｸ8 0207apple0309apple076 56ｦ00009fl ｸ8apple ｦ ｦ0. ｨC apple apple076 56ｦ000000ｸ , 0ｹ apple apple040ｸ90ｸ fl ｷ apple ｸ8; ｨC apple apple076 56ｦ000000ｸ , 0ｹ apple apple040ｸ90ｸ fl ｦ00300apple apple ｸ8; ｨC 0ｹ ｦ00ｷ309fl ( apple076 56ｦ00009fl 036ｦ00300apple ｦ apple apple076 56ｦ000000ｸ ). ｨｮ00apple000ｸ803 0ｷ ｦ00ｹ ｷ ｦ ｦ fl ｦ0. 0ｷ3096ｦ ｦ ｸ9 006ｦ0 apple6ｦ009000ｸ803 apple fl03 03apple ｸ8 15 [23]. ｨｪ6ｦ001, 006ｦ ｷ apple ｦ ｸ803 fl6 502fl000306fl 09ｨ -05ｨｨ ｦ0 036ｦ00300apple apple , 006ｦ008apple , 09ｨ -05ｨｨ05 fl6 502fl000306fl apple apple076 56ｦ000000ｸ803, ｦ0 016ｦ ｨ -05ｨｴ ｦ00ｷ apple076 56ｦ H4 09 H3, 0ｹ ｸ8-090ｸ86 56ｦ ｦ ｦ00ｷ3090ｸ9 03apple07036ｦ ｦ ｹ ｦ ｹ apple ｸ9 6ｦ ｦ0. 01apple , ｦ0096ｦ00007, 0ｹ ｦ ｸ806 09ｨ -05ｨｴ 040ｹ06ｦ ｹ apple076 56ｦ00009fl apple ｨ -05ｨｨ05 006ｦ0 036ｦ00300apple

7 , 056ｦ ｦ : apple ｸ803 [24]. ｨ 6ｦ ｦ apple ｦ apple apple076 56ｦ ｦ0 UBE3A, 0ｹ apple apple040ｸ90ｸ fl ｸ90ｹ ｦ00300apple apple ｸ apple0ｸ ｦ ｦ0 ( ｦ ｦ003 ｨｨ04apple ) ｹ ｦ apple apple076 56ｦ000000ｸ ｦ ｦ0fl 0ｹ apple fl UBE3A fl096ｦ0006ｦ apple00000ｷ3096ｦ ｸ apple076 56ｦ apple apple6ｦ0. ｨ 03000ｸ90306fl 0ｹ apple ｦ ｸ ｦ0096ｦ ｦ , 0ｹ ｷ ｦ ｦ ｦ ｦ apple fl 6ｦ ｸ ｨｺ0401, 03apple6ｦ apple09 09apple ｦ00ｸ ｦ0 SNURF-SNRPN ｨC 09ｨ -05ｨｨ05 [25] apple ｨ -05ｨｨ apple076 56ｦ ｦ0 036ｦ00300apple apple ｹ apple apple fl ｷ ｦ0. ｨｬ 086ｦ00ｷ ｨｴ, ｸ90ｸ ｦ0-0ｷ ｷ apple6ｦ apple ｦ0 (08apple090300apple0007 3% ｹ06ｦ ｦ ｦ00009fl), 036ｦ00300apple ｦ ｨ -05ｨｨ05 006ｦ fl apple076 56ｦ fl ｹ apple apple fl, 08apple fl ｦ0030ｸ ｦ ｦ00ｷ apple6ｦ apple09080ｷ30909 UBE3A 006ｦ0 036ｦ00300apple apple apple ｦ00ｷ ｦ00ｷ309fl ｨ 08apple apple ｨｴ ｦ0006ｦ % ｸ ｷ ｨ -05ｨｴ, ｦ0 016ｦ % ｸ803 apple6ｦ ｦ ｦ00009fl apple6 5090ｹ0000ｸ ｹ ｦ00ｷ309fl ｨ -05ｨｨ05 ( ) [5]. 09ｨ -05ｨｨ fl 0207apple0309apple076 56ｦ00009fl apple086ｦ00009fl 07030ｷ apple ｦ0 006ｦ0 03apple [26] ｷ ｨ -05ｨｨ ｦ ｸ9 036ｦ00300apple ｹ ｦ0 03apple ｸ8 15, 0ｹ apple07fl6 502fl fl apple ｨｨ ｦ000000ｸ apple apple000ｹ06ｦ fl, 0807 apple6ｦ009000ｸ ｷ ｦ003, 06 0ｹ06ｦ : 10000ｨC1 : apple ｸ ｦ0apple6ｦ apple fl ｦ0036ｦ ｸ804000ｹ , ｦ , apple , apple ｸ ｦ , apple026ｦ apple ｨｴ ｸ ｸ apple0703, 066 5fl096ｦ000000ｸ apple ｷ ｷ applefl 6ｦ apple apple076 56ｦ000000ｸ apple ｸ8 15, 0ｹ apple apple040ｸ90ｸ fl ｸ90ｹ ｷ ｦ0. ｨｬ 086ｦ00ｷ ｦ00ｷ309fl ｨ, apple0ｸ ｦ06 502fl0ｸ % ｹ06ｦ ｦ ｦ00009fl, 07030ｷ ｦ apple apple076 56ｦ000000ｸ apple ｦ0 15q11-q13 006ｦ00307 fl0306fl ｦ apple076 56ｦ fl ｨｪ6ｦ ｦ apple09 05ｨｴ, % 036ｦ ｦ00ｷ ｸ ｷ ｨ -05ｨｨ05, ｦ0 016ｦ % 6 50ｸ8fl6 5-02fl0ｸ90306fl 0800apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ30909 ( ) [5]. 0502fl 086ｦ00ｷ ｹ ｦ00ｷ309fl ｨ 0ｹ06ｦ ｸ86 56ｦ00ｸ ｦ0apple6ｦ apple000ｸ ｦ0090ｹ0000ｸ ｦ0apple fl apple076 56ｦ00009fl, ｦ00ｸ90ｸ70900 de novo 006ｦ ｹ ｹ1036ｦ0086ｦ003 apple6ｦ fl, fl6 502fl0ｸ90ｸ fl appleapple00010ｷ ｦ ｹ ｹ ｦ00ｷ ｹ06ｦ ｦ003090ｹ ｦ0090ｷ ｹ ｦ00ｷ309fl ｦ ｦ001 08apple09 05ｨｨ05 [27], 036ｦ apple09 05ｨｴ [28], apple ｸ ｨｴ 0700 fl6 502fl000306fl apple6ｦ00608apple070603apple6ｦ ｸ803 fl ｨｨ07016ｦ0096ｦ00007, 0ｹ % ｸ ｨｴ ｸ ｦ0090ｹ0000ｸ ｦ0apple6ｦ apple apple076 56ｦ00009fl 09ｨ, 08apple09 0ｹ fl apple036ｦ ｸ803 0ｹ ｦ0apple0009apple % [28] ｦ0090ｷ ｹ ｦ00ｷ309fl ｷ309apple076 56ｦ ｦ0apple6ｦ apple ｹ apple07fl fl apple0ｸ ｦ ｦ00009fl. ｨｪ6ｦ001, 06 08apple apple006 7apple ｦ0006ｦ ｦ0 0ｸ ｦ , 0ｹ ｦ00ｷ ｸ ｸ apple07-0ｷ apple036ｦ apple076 56ｦ000000ｸ ｸ apple ｸ ｹ apple ｦ ｨｬ apple0ｸ ｸ ｦ0090ｹ0000ｸ800 0ｹ ｦ00ｷ apple ｦ fl ｰ ｹ0000ｸ803 05ｨｴ ｱ, 036ｦ0apple6ｦ apple ｸ9-0ｸ fl apple , 030ｸ804000ｹ ｸ9 01 apple000ｹ009, ｹ apple ｦ0016ｦ00309, apple0ｸ apple ｦ00ｸ ｹ ｸ9 016ｦ0apple ｨｨ05 [29]. 05apple apple ｸ ｦ apple apple apple076 56ｦ000000ｸ ｹ ｦ0 apple6ｦ p apple080903, apple00, 11 0ｹ ｸ90ｷ apple6 56ｦ ｸ ｦ apple ｦ ｦ ｦ00300apple (H19, KCNQ1, KCNQ1DN, CDKN1C, SLC22A18, PHLDA2, OSBPL5), 036ｦ ｷ ｹ apple (IGF2, IGF2-AS, KCNQ1OT1, INS) [ ｦ0 0ｷ apple6ｦ apple ｦ0 IGF2/H19 (09ｨ 1) 09 LIT1/KCNQ1OT1 (09ｨ 2) ｹ ｦ00ｸ ｦ ｸ9 0ｹ apple ｸ9 0ｹ ｨ apple ｦ fl apple ｦ fl ｦ0 036ｦ00300apple ｦ ｷ ｹ apple fl0307apple apple apple076 56ｦ000000ｸ ｦ ｨC CTCF. ｨｴ ｷ apple ｦ apple07 6ｦ flapple- 000ｸ fl0307apple, apple04fl ｹ100036ｦ apple6ｦ0, apple6ｦ ｦ ｦ0 H19, 0ｹ ｦ ｸ803 0ｹ apple ｸ apple apple076 56ｦ ｦ0 IGF ｦ00300apple apple ｸ8. 046ｦ ｷ ｨ 1, 006ｦ008apple , 006ｦ fl apple ｦ fl CTCF ｦ apple076 56ｦ ｦ ｸ9 H ｹ100036ｦ apple ｹ ｦ ｷ3096ｦ00ｷ3090ｸ9 03apple6ｦ apple09080ｷ30909 IGF2. 09ｨ 2 ( apple6ｦ00304apple apple00 02fl0ｸ90306fl apple6ｦ ｹ0000ｸ ｸ8 ｨC KCNQ1OT1, LIT1, KvDMR KvLQT1) ｦ ｦ apple ｦ0 KCNQ1, apple076 56ｦ ｦ0 036ｦ00300apple apple ｹ apple apple fl ｸ90ｹ ｷ ｦ0. ｨｨapple apple6ｦ apple09080ｷ30909 ｨC apple6ｦ apple ｦ0fl ｨｺ0401 (KCNQ1OT1) ｨC 6 50ｸ801020ｸ90ｹ06ｦ ｦ apple ｸ8 applefl 0703 apple6ｦ ｸ apple apple076 56ｦ000000ｸ ｦ ｷ apple ｦ0apple ｸ apple apple076 56ｦ000000ｸ apple p apple apple0309apple076 56ｦ000090ｸ apple07-036ｦ ｦ0006ｦ0ｨC ｦ0 (050503, MIM ), fl- 0ｷ ｦ0fl 0ｹ06ｦ ｦ apple ｦ0apple0009apple : : apple ｸ803. ｨｦ ｸ ｦ ｹ apple ｦ0016ｦ ｦ ｦ00009fl fl6 502fl0ｸ90306fl 08apple ｦ0036ｦ ｹ apple ｦ ｦ0, 036ｦ001apple fl, 6ｦ ｦ apple0ｸ , ｹ0006ｦ0fl 6 7apple0ｸ8086ｦ0, ｦ002070ｷ apple , ｹ06ｦ00ｸ90306fl apple03apple070209fl, ｦ0036ｦ ｦ0fl fl, 6 500apple ｦ ｸ800 07apple ｦ ｦ003, 6ｦ ｦ ｹ ｨｨapple090300apple % 086ｦ00ｷ fl ｸ ｸ806 apple apple6ｦ fl 0ｹ103 apple ｦ ｸ , 6 5 0ｹ06ｦ ｦ ｹ ｨｨ ｨｴ, ｹ ｦ00ｷ30909 ｨC ｦ003070ｹ00007 apple ｸ , 08apple ｸ8 096ｦ0 apple6ｦ ｦ0 (60ｨC70%) ｹ06ｦ ｦ ｦ00009fl apple ｨC10% 0ｹ

8 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ ｦ00ｷ ｦ003apple6ｦ ｦ00ｸ903 09ｨ fl096ｦ0000ｸ apple apple076 56ｦ ｦ0 036ｦ00300apple ( ), 0ｹ apple apple apple ｦ ｦ ｸ9 09-6ｦ ｹ apple IGF ｹ06ｦ ｹ ｹ fl 096ｦ003apple6ｦ ｦ00ｸ903 09ｨ apple076 56ｦ ｹ ｦ0 006ｦ0 036ｦ00300apple ( ) ｦ ｦ00ｷ ｦ ｹ apple KCNQ1OT1 09, 016ｦ , apple applefl 6ｦ0 6ｦ ｸ apple apple076 56ｦ000000ｸ ｦ0 036ｦ00300apple apple , ｸ90ｹ06ｦ0fl apple apple CDKN1C, apple6ｦ ｦ003apple096 56ｦ000030ｸ ｦ00ｹ ｸ90ｹ ｸ ｦ ｦ appleapple00-02fl0ｷ30906 ｰ0ｹ ｨC ｱ 08apple ｦ0090ｸ86 56ｦ00003, 0ｹ ｦ0 00appleapple6ｦ apple076 56ｦ H19 6ｦ ｷ30909apple076 56ｦ apple apple6ｦ fl 0ｹ103 apple ｦ ｸ , ｦ0 016ｦ001 0ｹ ｦ00ｷ30909 LIT ｷ ｹ fl096ｦ0000ｸ ｹ apple ｦ apple0309apple076 56ｦ ｦ0apple6ｦ apple000ｸ803 02fl 6ｦ apple07036ｦ0 0807apple apple6ｦ fl [30, 31]. ｨ apple , 0ｹ ｹ ｦ00ｷ ｨ 1 03apple ｸ apple6ｦ ｦ ｸ ｦ0000ｸ ｦ00ｷ apple ｨｺ6ｦ ｦ0ｨC apple6ｦ0 (05ｨｺ05, MIM ) [32ｨC34]. ｨｴ0307 apple ｦ ｦ ｦ ｹ ｦ0apple6ｦ apple fl 6 50ｸ8apple6ｦ apple ｦ0036ｦ ｦ0 00apple apple ｦ0, 016ｦ0apple ｸ9, apple , 6ｦ apple apple / , ｦ ｷ3006 5, 0ｹ000apple ｷ apple070807apple0ｷ , 03apple ｸ ｷ ｸ ｦ00ｸ9-0ｸ , apple6ｦ ｸ803 apple6ｦ ｨｺ05 ｨC ｹ apple ｦ ｦ ｨｦ % 086ｦ00ｷ ｦ0apple ｦ00ｸ apple ｸ ｸ9 03apple ｸ ｦ00300apple apple fl (ｨｦｨｺ057036ｦ003), 0ｹ ｦ0090ｸ86 56ｦ ｦ ｸ9 apple ｹ ｦ ｦ00009fl ｦ0026ｦ000066ｦ ｸ apple apple076 56ｦ000000ｸ PEG1/MEST (7q32) 09 GRB10 (7p12), 0ｹ apple apple040ｸ90ｸ fl ｷ ｦ00300apple ｦ ｦ003070ｹ ｹ06ｦ apple07 6ｦ ｨｺ ｸ8fl6 502fl0ｸ90306fl 03apple ｸ apple000603apple , 096ｦ003apple6ｦ ｦ00ｸ90ｸ apple ｸ8 1, 7, 8, 11, 15, [32, 33]. 05 0ｹ applefl ｦ00009fl 096ｦ ｦ00ｸ ｦ00ｷ30909 apple ｦ0 11p15, apple086ｦ00ｸ ｦ apple apple apple076 56ｦ000000ｸ ｸ ｨｮ09036ｦ0fl ｦ [35], 096ｦ , 0ｹ ｸ ｹ apple ｦ ｦ ｦ00009fl (08apple ｦ0036ｦ ｦ0fl 096ｦ0 00apple08016ｦ0 apple ｦ0, apple070209fl) fl6 502fl0ｸ90306fl 08applefl apple ｸ ｹ ｸ9 apple ｦ apple03apple apple , 6 50ｸ806016ｦ0096ｦ apple , 0ｹ ｦ apple07036ｦ ｸ ｸ ｦ0000ｸ ｷ ｦ apple- 6 50ｸ ｦ00ｷ ｨｺ05 0ｸ ｦ0000ｸ8 0ｹ ｦ00ｷ IGF2 / H19, 6ｦ apple076 56ｦ ｨ 1 006ｦ ｷ ( ), 08apple fl0ｸ ｹ apple IGF [32]. ｨｪ ｸ8026ｦ0 6 50ｸ8fl ｦ0 0ｹ ｦ00ｷ309fl 09ｨ 1, 08apple ｦ0fl ｹ apple apple ｸ , 0ｹ00307 apple apple09apple fl 08apple ｨｨ ｹ ｦ000000ｸ800 0ｸ apple ｸ8 09 apple ｦ fl0309 [33, 34], ｦ0090ｸ86 56ｦ0fl, 0ｹ apple090300apple ｨC30% ｹ06ｦ ｨｺ ｸ apple076 56ｦ ｦ0 IGF2/H19 006ｦ ｷ apple ｨ apple , 0ｹ ｦ00ｷ ｸ ｦ [33], 6ｦ0 04 apple ｦ0090ｹ apple076 56ｦ ｨ 1 [32, 33], 04016ｦ0090ｸ86 56ｦ0fl 006ｦ ｦ ｹ ｦ003090ｹ ｹ ｦ00ｷ ｦ ( , ). ｨｮ ｦ0066ｦ fl 09ｨ 2 (KCNQ1OT1), ｦ apple apple076 56ｦ00009fl 006ｦ ｷ , apple apple ｹ ｸ9 0ｹ apple CDKN1C 08apple09 05ｨｺ05 [36]. ｨｦ 006ｦ apple ｸ ｦ fl0ｸ apple ｦ00009fl03 036ｦ ｦ ｦ apple076 56ｦ00009fl ｦ0apple ｸ80207 [33] fl apple ｸ ｦ00ｷ ｨｺ05, ｸ9-0ｸ ｦ00ｷ3090ｸ9 11p15 036ｦ00300apple apple fl, 096ｦ003apple6ｦ ｦ00ｸ90ｸ7040ｸ9 09ｨ 2 [37] ｦ00ｷ309fl 096ｦ ｦ0030ｸ86 56ｦ0026ｦ apple apple076 56ｦ000000ｸ ｸ8, 0ｹ apple apple040ｸ90ｸ fl ｦ00300apple (KCNQ1, CDKN1C, SLC22A18, PHLDA2) ｷ (KCNQ1OT1) ｦ0, 09 08apple ｦ ｹ ｸ ｸ8 CDKN1C. ｨ apple076 56ｦ00009fl 09ｨ 2 006ｦ0 036ｦ00300apple ｦ00ｷ ｦ0 0ｸ ｸ , ｦ0 016ｦ ｦ ｦ apple076 56ｦ00009fl 09ｨ ｦ0 020ｸ9 6ｦ ｨｪ6ｦ apple6ｦ , apple07030ｸ8 ｨｺ6ｦ ｦ apple6ｦ ｦ0006ｦ0ｨC ｦ apple6ｦ ｦ003apple096 56ｦ fl ｦ00ｹ ｦ ｸ ｦ ｦ , ｸ803 apple00-0ｷ30908apple ｸ apple apple ｸ ｷ ｦ ｦ008apple6ｦ ｹ ｦ00ｷ309fl0309 0ｷ apple apple ｦ0. 01apple ｦ ｹ apple ｦ0 0ｹ ｦ00ｷ ｨ ｦ0apple ｦ00ｸ90306fl 09 08apple09 apple6ｦ00100 [38ｨC40]. ｨｪ6ｦ001, apple apple076 56ｦ IGF2/H19 006ｦ0 036ｦ00300apple ( ), 08apple fl0ｸ apple apple ｦ ｦ ｸ9 096ｦ ｹ apple apple ｦ0 IGF2, 6 50ｸ8fl apple apple apple ｹ ｦ : ｦ0, ｦ ｦ ｸ8, apple6ｦ ｦ0apple ｸ8, apple ｦ ｸ806 apple6ｦ001, ｸ8, 016ｦ0apple0ｷ ｦ ｹ ｦ , ｦ0apple ｦ0 036ｦ , apple6ｦ ｹ [40] apple076 56ｦ apple00000ｷ3096ｦ apple076 56ｦ apple ｦ ｨ 2 LIT1/KCNQ1OT1 ( ) ｦ0apple apple09 016ｦ0apple0ｷ ｸ ｦ0. ｨｪ6ｦ ｦ0- apple ｹ ｦ0 08apple ｸ9 04apple fl 0ｹ apple ｦ0 CDKN1C, apple0ｸ apple apple 0ｷ ｦ ｸ ｦ009 P57 KIP2, ｹ ｸ apple fl0ｷ3090ｸ ｹ ｷ ｦ0. ｨ apple , 0ｹ ｹ apple CDKN1C 6 5 0ｹ ｹ06ｦ ｸ ｦ ｷ30909apple076 56ｦ ｦ0-0ｷ309fl , apple076 56ｦ CpG apple apple apple00 [41] apple076 56ｦ ｨ 2 006ｦ0 036ｦ00300apple , apple ｦ00ｸ90ｸ fl ｹ apple CDKN1C 09 IGF2, 0ｸ ｦ0096ｦ fl ｹ [42]. ｨ fl fl0ｷ ｹ06ｦ ｸ apple ｦ0, ｹ apple ｸ ｷ ｹ06ｦ ｸ8 0ｹ ｦ00ｷ apple6ｦ ｹ0000ｸ803 5*

9 , 056ｦ ｦ0 0ｷ apple6ｦ apple ｦ ｹ ｦ0. ｨｪ6ｦ001, 0ｹ06ｦ ｦ0 05ｨｴ fl0ｷ ｦ06 502fl : [24]. ｨｨapple090300apple0007 3% 086ｦ00ｷ ｸ ｷ ｹ ｦ0 036ｦ00300apple apple , fl6 502fl0ｸ90ｸ fl apple ｦ ｹ ｦ00ｷ ｨ -05ｨｴ. ｨｨ070ｹ ｹ06ｦ ｦ0 0207apple0309apple076 56ｦ00009fl 0800apple6 5090ｹ0000ｸ803 0ｹ ｦ00ｷ ｦ ｦ ｦ06 502fl0300 1: (5 ﾁ 10 ｨC5 ). ｨｨ fl0ｷ ｦ0fl 0ｹ06ｦ ｦ0 05ｨｨ05 070ｷ ｦ fl 016ｦ001 1 : 10000ｨC1 : apple ｸ803 [5, 22, 43] ｦ00ｷ ｨ ｦ0apple ｸ8 04 1% ｸ803, 08apple090ｹ % ｨC 0ｹ apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｨｪ6ｦ apple6ｦ , 0ｹ06ｦ ｦ0 apple fl apple ｦ ｨｨ apple ｹ0000ｸ ｹ ｦ00ｷ309fl ｨ -05ｨｨ05 006ｦ fl ｦ0086ｦ (1.1ｨC2.8) ﾁ 10 ｨC apple0900fl0300 apple6ｦ00608apple070603apple6ｦ ｸ fl0ｷ ｦ001 1 : apple [5] , 0ｹ % ｹ06ｦ ｦ ｦ00009fl 0800apple6 5090ｹ0000ｸ800 0ｹ ｦ0-0ｷ ｦ003apple6ｦ ｦ00ｸ903 09ｨ 1, 6ｦ % ｨC 09ｨ 2 [44], apple07fl apple fl apple ｦ apple6 5090ｹ ｹ ｦ00ｷ ｨ ｨ ｦ ﾁ 10 ｨC ﾁ 10 ｨC ｨｮ ｦ0066ｦ fl 0ｹ ｦ00ｷ ｹ apple09 05ｨｺ05, ｹ ｹ06ｦ ｸ ｦ apple ｦ06 502fl000306fl ｸ803, ｹ06ｦ ｸ apple07036ｦ ｹ ｦ ｦ000000ｸ ｦ fl0ｸ apple ｹ06ｦ ｦ0apple ｸ ｦ apple076 56ｦ00009fl. ｨｨapple ｸ ｷ ｦ0090ｸ86 56ｦ00ｸ903, 0ｹ00307, apple- 6 50ｸ803, 0800apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ apple6ｦ ｹ0000ｸ803 0ｷ apple6ｦ apple ｦ ｦ00ｸ apple6ｦ ｹ06ｦ ; apple0ｸ803, 0ｹ06ｦ ｦ0 0207apple0309apple076 56ｦ00009fl 6ｦ0 00appleapple6ｦ ｸ803 0ｹ , 016ｦ001 08apple6ｦ , 006ｦ ｨC 6 56ｦ0 0807applefl 016ｦ0 08apple ｸ8046ｦ apple00 000ｸ90ｸ9 0ｹ06ｦ ｸ ｦ00ｷ30906; apple , 06apple ｸ ｹ ｦ00ｷ30906 ( apple076 56ｦ ｨ 006ｦ0 036ｦ00300apple (09ｨ -05ｨｴ 09 LIT1/KCNQ1OT1) ｦ ｷ (IGF2/H19) 03apple ｦ003, apple apple076 56ｦ ｨ 006ｦ0 036ｦ00300apple (IGF2/H19) ｦ ｷ (09ｨ -05ｨｨ05) ｦ003) 08apple ｦ0 6ｦ00ｸ90ｸ ｦ0090ｸ86 56ｦ00ｸ90306fl 006ｦ0apple fl 06036ｦ ｦ apple076 56ｦ00009fl apple apple076 56ｦ000000ｸ ｦ0 036ｦ00300apple apple ｦ003. ｨｦ ｸ ｨBfl ｦ ｦ ｸ fl096ｦ , 0ｹ apple fl0307apple- 000ｸ apple apple076 56ｦ000000ｸ ｹ ｦ apple040ｸ90306fl ｷ309036ｦ003. ｨｨ07016ｦ apple ｦ0 (H19, MEG3, GNAS), apple ｦ apple0ｸ803 08apple ｨｨapple ｦ06 76ｦ fl, 0ｹ apple6ｦ ｹ ｦ apple076 56ｦ00009fl apple apple076 56ｦ ｸ ｦ0 apple6ｦ009000ｸ803 apple fl03 03apple , 6 500apple07fl030007, ｹ ｸ90ｷ ｦ ｦ0fl 096ｦ00ｸ709036ｦ ｦ apple ｦ00009fl 07030ｷ ｦ0, apple ｦ ｦ fl 06apple6ｦ apple000009fl [45]. ｨｴ ｦ00ｷ ｸ apple apple076 56ｦ000000ｸ ｦ003 05apple apple ｦ0, 066 5fl- 096ｦ000000ｸ ｹ ｦ00ｷ309fl apple apple076 56ｦ000000ｸ , 6 50ｸ8 0002fl000306fl 03apple6ｦ apple000ｸ ｦ0036ｦ ｸ ｦ0036ｦ0apple- 000ｸ ｦ (ｨｪ040505, MIM ), 08apple07fl6 502fl0ｸ90ｸ fl 096ｦ0 00apple apple090403apple apple6ｦ fl, apple , apple ｦ001apple ｨｴ0307 apple ｦ ｦ ｦ (1 : apple ｸ803) ｸ apple apple ｸ ｷ apple fl (ｨｦｨｺ ｷ3), ｦ00ｷ apple ｦ0 6q24 006ｦ ｷ apple , ｦ apple090300apple % ｹ06ｦ fl096ｦ ｦ apple076 56ｦ0-0009fl apple apple076 56ｦ ｦ0 ZAC, ｦ ｦ q24. ｨｨapple ｦ0 fl6 502fl000306fl 03apple6ｦ apple09080ｷ ｸ ｦ apple, ｹ ｸ apple ｹ ｷ ｦ ｦ apple ｸ9 apple fl0ｷ3090ｸ apple000ｷ ｦ ｹ ｨｴ010608apple fl ZAC 08apple ｸ90ｹ ｷ apple ｸ8, ｦ0 016ｦ ｦ00300apple ｦ apple ｦ000. ｨｬ ｸ ｨｪ ｨｦｨｺ ｷ ｦ0-0ｷ ｦ0apple ｦ fl apple076 56ｦ CpG ｦ ｹ ｦ0 ZAC 006ｦ0 036ｦ00300apple ( ) [46]. ｨｨapple ｦ0fl ｦ apple6ｦ00608apple070603apple6ｦ ｨｪ ｸ ｹ06ｦ ｦ ｦ00009fl, ｸ803 0ｹ ｦ00ｷ309fl0309 ZAC, 0ｹ06ｦ ｦ apple076 56ｦ00009fl 036ｦ00300apple ｦ fl ｦ06 502fl ﾁ 10 ｨC5, 0ｹ ｦ ｹ06ｦ ｹ ｦ00ｷ ｷ apple6ｦ apple ｦ ｹ ｦ0, apple apple ｸ apple076 56ｦ ｦ0 036ｦ00300apple ｦ003. ｨ apple , 0ｹ apple0ｸ ｦ00ｷ ｨｪ ｸ ｦ ｦ0090ｷ apple076 56ｦ000090ｸ9 09 apple apple apple076 56ｦ000000ｸ , ｦ ｦ000000ｸ ｦ0 apple6ｦ009000ｸ803 03apple ｦ003 ｨC GRB10 (7p12), PEG1 (7q32), LIT1/KCNQ1OT1 (11p15) 09 PEG3 (19q13), apple0003fl 016ｦ ｦ apple076 56ｦ00009fl apple apple ｦ000000ｸ SNRPN (15q11-q13), H19 (11p15) 09 DLK1 (14q32) ｦ06 56ｦ00206fl 0007apple036ｦ ｸ803 [47] ｦ009-0ｷ ｹ ｹ06ｦ0fl03 08apple07fl6 502fl0206fl ｦ0apple apple076 56ｦ00009fl, ｦ003apple6ｦ ｦ000030ｸ ｦ000fl ｸ ｦ apple6ｦ apple07 6ｦ000 6ｦ ｦ ｹ apple036ｦ00309 ｨｪ ｦ00ｷ ｸ ｦ009-0ｷ ｹ06ｦ ｸ apple09 apple apple ｹ apple , 0ｹ ｸ ｷ ｦ apple apple076 56ｦ000000ｸ ｸ806016ｦ0090ｸ86 56ｦ fl 08apple , 0ｹ00307 ｨｪ fl6 502fl030006fl ｸ9 036ｦ ｦ0090ｸ86 56ｦ ｰ apple07036ｦ0 036ｦ00300apple apple076 56ｦ00009fl ｱ, 08apple apple apple07 6ｦ000, fl ｦ003090ｹ ｦ apple076 56ｦ ｦ00300apple apple apple076 56ｦ000000ｸ , apple076 56ｦ000000ｸ ｦ00300apple ｦ apple ｦ003, 0ｹ apple ｸ ｦ ｸ86 56ｦ000090ｸ ｹ ｦ0apple ｸ8 096ｦ ｦ00009fl [47]. 05apple apple090300apple0703 ｰ apple07036ｦ0 036ｦ00300apple apple076 56ｦ00009fl ｱ apple6ｦ apple ｸ ｸ apple ｸ ｸ8apple000ｸ ｦ , ｦ00ｸ90ｸ70906, ｦ00107, ｦ ｹ ｹ ｦ00ｷ ｦ0apple ｦ00ｸ90ｸ ｦ0090ｷ ｦ apple076 56ｦ000090ｸ , 0ｹ ｹ ｦ00ｷ applefl apple apple076 56ｦ000000ｸ (08apple ｸ

10 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ p15) 08apple09 ｨｪ ｸ apple ｸ ｦ00009fl03 apple ｦ apple076 5 [48]. 01apple , 0ｸ ｦ0096ｦ00007, 0ｹ ｹ ｦ00ｷ30909 ZAC ｦ apple0309apple076 56ｦ apple0ｸ803 08apple ｦ ｹ000apple ｦ0apple ｹ apple CDKN1C 09 LIT1. 05 apple apple07000ｸ8, fl 06036ｦ ｦ apple076 56ｦ00009fl LIT ｦ0apple ｦ00ｸ90306fl apple0ｸ ｦ00ｷ ｨｪ ｨｴ ｦ apple apple076 56ｦ apple ｸ ｦ ｦ , 07 ｨB fl0ｸ90ｸ ｸ8 ZAC, CDKN1C, LIT ｹ06ｦ ｸ90ｸ apple fl0ｷ ｹ apple ｦ0 [48] ｸ90ｹ , 0ｹ ｹ ｹ ｦ0fl 09006ｦ ｦ00ｷ309fl , ｹ ｸ ｹ , ｦ apple0309apple076 56ｦ00009fl apple0ｸ ｸ fl apple ｹ apple ｦ ｦ ｹ06ｦ ｸ80400, ｨｦｨｺ ｦ00300apple apple fl, 006ｦ0apple04046ｦ00ｸ90ｸ76ｦ0fl 6ｦ0026ｦ ｸ apple apple076 56ｦ000000ｸ PEG1/MEST 09 GRB10, apple000ｹ06ｦ fl 08apple090300apple % 086ｦ00ｷ apple ｨｺ6ｦ ｦ apple6ｦ0 [32] fl apple ｸ ｹ ｨｺ05, apple fl 6 5 apple ｦ apple000009fl ｸ90ｸ apple apple076 56ｦ CpG apple00000ｷ3096ｦ apple076 56ｦ apple ｦ0 PEG1/MEST 006ｦ ｷ apple [49] ｦ apple07066ｦ ｸ ｦ0apple0100apple ｦ0096ｦ apple036ｦ apple ｦ ｦ apple ｸ apple07 6ｦ000 6ｦ0, fl6 502flfl ｸ apple ｦ002090ｹ009fl 0ｹ ｦ00ｷ apple apple076 56ｦ ｦ0 ( ). ｨｨapple ｦ0 PEG1/MEST ｨC 0200apple apple ｦ06 76ｦ apple07026ｦ ｦ ｸ9. 046ｦ ｦ ｷ ｦ ｸ803 6ｦ Peg1/Mest ｸ apple ｦ ｸ ｦ00ｷ ｦ0apple ｹ103 apple ｦ apple6ｦ fl, 096ｦ0-00apple ｦ0036ｦ apple ｦ ｸ ｦ0 [50] applefl 006ｦ ｹ00307 PEG1/MEST apple6ｦ ｦ003apple096 56ｦ fl ｦ00ｹ ｦ ｦ ｦ0 02fl 05ｨｺ05, 03070ｹ ｸ ｦ00ｷ ｦ0-0ｷ ｦ000000ｸ apple ｦ ｷ309apple ｦ0000ｸ8 [51] ｸ90ｹ , 0ｹ applefl ｹ06ｦ ｹ ｦ00ｷ30909 PEG1/MEST apple apple apple076 56ｦ000000ｸ (6 5 0ｹ06ｦ , GRB10) fl6 502fl030006fl 0ｹ ｹ ｹ ｹ apple ｦ ｦ00009fl [49]. ｨｪ6ｦ ｦ ｹ06ｦ ｹ ｹ ｦ0 00appleapple6ｦ00ｷ309fl0309 0ｷ apple apple ｦ0, 0800apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｸ apple apple076 56ｦ000000ｸ ｦ003 0ｸ ｸ8fl ｸ8 08apple09 apple6ｦ ｹ0000ｸ apple036ｦ003 apple6ｦ0016ｦ apple apple076 56ｦ apple apple076 56ｦ000000ｸ apple apple- 000ｸ ｦ ｦ00ｷ309fl apple apple076 56ｦ000000ｸ803 08apple apple076 56ｦ00009fl 08apple fl ｸ9 08apple ｦ apple ｹ06ｦ ｦ ｹ apple apple0703. ｨｪ6ｦ001, apple apple076 56ｦ ｹ apple apple ｷ ｦ fl ZAC ( ) ｦ apple09 apple6ｦ00100 fl090ｹ [52]. ｨｨapple09 016ｦ0apple0ｷ ｹ apple apple076 56ｦ000090ｸ apple6 76ｦ fl 6ｦ ｸ ｦ00300apple ｦ ｦ0 GTL2 (14q32) ( ), 6 50ｸ8090ｸ86 56ｦ0fl ｦ0030ｸ ｸ ｹ apple apple apple apple076 56ｦ ｦ ｹ apple ｨC DLK1, 6ｦ ｦ ｷ [53] fl0909 0ｹ ｦ00ｷ apple apple076 56ｦ ｸ apple apple6ｦ fl apple ｦ fl 09006ｦ00ｹ ｦ0fl apple apple ｦ0apple6ｦ apple6ｦ apple ｦ apple0ｸ apple6ｦ009000ｸ ｦ000fl ｦ apple6ｦ009000ｸ ｨｪ6ｦ001, apple apple076 56ｦ ｦ ｦ00300apple ｦ fl apple apple076 56ｦ ｦ0 P73 (1p36) ( ) 0ｸ ｦ apple apple ｦ apple ｦ0 [54] apple0003fl 08apple09 016ｦ0apple0ｷ ｹ fl ｦ0 020ｸ9 6ｦ fl 096ｦ ｦ0fl 0ｹ apple fl 6ｦ ｦ0, ｦ0fl apple076 56ｦ ｷ ｦ fl (08.3.2) [55, 56]. ｨｪ6ｦ0016ｦ0fl 03016ｦ ｷ ｹ ｹ ｦ00ｷ ｸ8090ｸ86 56ｦ ｷ309fl03 P73 016ｦ apple apple6ｦ apple ｦ0 [38]. 05apple apple apple000ｸ CDKN1C, 0ｹ apple apple040ｸ90ｸ fl apple ｦ00300apple apple ｸ8, 0ｹ06ｦ ｦ0apple ｦ ｹ ｦ00ｷ apple09 apple6ｦ ｹ0000ｸ apple036ｦ003 apple6ｦ0016ｦ0. 046ｦ008apple090300apple, applefl 036ｦ00300apple ｦ fl 006ｦ0 020ｸ9 6ｦ fl % ｹ06ｦ apple6ｦ0016ｦ , apple ｦ000030ｸ ｷ apple ｦ0 11p15 [57]. ｨ apple , 0ｹ apple fl ｦ ｷ ｦ00300apple ｦ fl CDKN1C 006ｦ00ｹ009006ｦ ｹ apple apple076 56ｦ fl 07030ｷ ｦ ｦ ｦ0 [58], 0ｹ ｦ , 016ｦ ｹ06ｦ P73, ｦ apple ｷ309fl ｦ0 016ｦ001 08apple ｦ0, apple6ｦ apple ｦ000fl ｹ ｸ apple apple076 56ｦ000000ｸ , ｹ ｸ apple0309apple076 56ｦ ｦ0, fl6 502fl fl WT1, ｦ ｦ000000ｸ p fl 0ｹ ｦ ｦ apple02000ｸ ｦ0apple6ｦ apple apple ｦ0 6 5 apple6ｦ009000ｸ ｦ000fl apple6 76ｦ0006ｦ ｦ ｦ0fl 0ｹ apple fl WT ｦ0apple ｦ fl ｹ0016ｦ003, 0600apple 0ｷ300, , 08000ｹ ｹ , ｦ0 016ｦ ｦ ｦ00ｷ apple apple ｹ ｦ0fl 03apple6ｦ apple0908-0ｷ309fl 036ｦ00300apple ｦ fl apple07 026ｦ006036ｦ ｷ309036ｦ003, 006ｦ008apple , 6ｦ ｸ ｦ0090ｸ86 56ｦ fl 07030ｷ ｦ ｸ806016ｦ0090ｸ86 56ｦ fl , 0ｹ ｦ apple02000ｸ apple ｦ0090ｸ86 56ｦ fl ｦ0 apple apple6ｦ fl apple0ｸ ｦ ｷ ｹ0000ｸ apple03 apple6ｦ0016ｦ0 [38]. ｨｨapple09 apple6ｦ ｦ ｹ apple09fl ｹ06ｦ fl 09006ｦ ｦ00ｷ309fl apple apple076 56ｦ ｦ0 PEG3 (19q13.4) apple apple076 56ｦ00009fl 6ｦ ｷ ｦ fl ( ), ｦ0 016ｦ001 08apple apple ｦ0apple- 0ｷ ｦ ｦ0apple ｦ fl 096ｦ ｦ0fl 0ｹ apple fl ｦ0, ｦ0fl apple076 56ｦ ｦ00300apple ｦ fl ( ) [59]. ｨ apple ｸ apple ｦ0 apple6ｦ fl apple6ｦ0016ｦ0 fl6 502fl0ｸ90306fl ｸ8, 06036ｦ apple ｦ apple0ｸ fl ｹ ｸ90ｷ ｦ00ｸ90ｸ ｨｦ apple090300apple076 5 ｨC M6P/IGF2R. ｨｨapple ｦ0 fl6 5-02fl000306fl apple000ｷ apple, apple0ｸ fl090ｸ86 56ｦ ｦ ｦ ｨC ｦ apple , 036ｦ IGF2, ｹ ｦ0fl apple6ｦ apple ｸ8 02fl 006 7apple6ｦ0 6ｦ00ｷ ｦ000000ｸ apple apple076 56ｦ ｸ apple0ｸ8060ｸ8, ｦ0 6ｦ apple02000ｸ apple ｹ ｦ0 ｨC

11 , 056ｦ ｦ ｸ ｦ ｸ ｦ0apple6ｦ apple 0ｹ apple M6P/IGF2R. 050ｸ806016ｦ0090ｸ86 56ｦ fl 08apple , 0ｹ ｹ06ｦ ｦ ｹ apple ｹ apple apple ｦ ｸ8046ｦ fl apple apple6ｦ fl apple6ｦ0016ｦ0 [38] , ｦ ｸ ｦ apple apple076 56ｦ000000ｸ ｦ M6P/IGF2R 04 50% 086ｦ00ｷ ｸ ｦ0 [60]. ｨｨｨｺｨ ｨｮｨ ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ ｨｨ00ｨｺ05ｨ ｨｮ ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ 09 ｨｨapple ｦ0fl ｦ , 0ｹ apple090ｹ0000ｸ800 0ｹ ｦ0-0ｷ30909 ｨC 0ｹ10307 apple ｦ ｦ00ｷ ｦ , apple070209apple040ｸ90ｸ apple apple04 03apple07036ｦ ｦ0, ｦ fl 0000fl06000ｸ803, 0ｹ ｸ8090ｸ86 56ｦ apple0309apple076 56ｦ apple6 5090ｹ0000ｸ803 0ｹ ｦ00ｷ ｨｨ , fl6 5-02fl0ｸ90306fl apple ｦ ｦ ｹ ｦ apple086ｦ ｹ ｹ ｦ ｦ ｦ apple ｦ000006ｦ0fl 0ｹ06ｦ ｦ0 0ｹ ｦ00ｷ ｸ ｷ309apple076 56ｦ0006ｦ ｹ apple ｸ ｦ apple6ｦ ｦ ｹ06ｦ ｸ80400, 0ｹ06ｦ ｦ0 0ｹ ｦ00ｷ ｸ80300 apple6ｦ ｹ apple6ｦ009000ｸ803 0ｷ apple6ｦ apple ｦ0. ｨｴ ｦ ｦ0 030ｸ , 0ｹ ｹ ｦ ｸ ｸ ｦ , apple ｹ ｸ ｸ9 0ｹ ｦ00ｷ30906, 0ｹ00003 apple ｦ ｸ ｹ000000ｸ ｦ0096ｦ ｦ ｸ ｦ00009fl ｹ apple00 apple6ｦ apple- 0309apple076 56ｦ000090ｸ9 0800apple6 5090ｹ0000ｸ803 0ｹ ｦ00ｷ p15 [61]. ｨｦ016ｦ0096ｦ , 0ｹ apple00000ｷ3096ｦ apple076 56ｦ apple IGF2/H ｸ ｸ903 4 SNP (T123C, G358A, T382G 09 A402G), apple0ｸ apple000ｹ06ｦ0-0ｸ90306fl apple ｸ ｦ ｦ003: TGTA, CATG 09 CAGA. 030ｸ ｦ0096ｦ ｦ00ｹ ｹ ｹ06ｦ ｸ8 6 76ｦ ｦ0 CAGA ｹ06ｦ ｸ8 6 76ｦ ｦ0 CATG ｦ00ｷ , apple6ｦ ｸ apple apple ｦ ｸ8026ｦ0 08apple ｦ0 08apple ｹ ｦ0fl 0800apple00 6ｦ00ｹ06ｦ0 036ｦ00300apple ｦ ｦ0 H-AS ｦ ｨ -05ｨｴ fl ｨｴ, ｸ90ｸ ｹ ｦ00ｷ3090ｸ ｷ apple apple ｦ0 [62]. ｨｴ ｹ ｦ ｦ0 036ｦ ｸ ｦ003apple fl ｦ , apple0ｸ ｸ ｹ000000ｸ8 6 5 apple fl0ｷ3090ｸ9 0603apple apple0ｸ8 03apple07036ｦ ｦ0. ｨ , 0ｹ apple02000ｸ ｦ0apple096ｦ000030ｸ ｦ0 5, apple6ｦ apple07026ｦ0026ｦ003apple ｦ0090ｸ8 (MTHFR) ｦ0090ｸ86 56ｦ fl ｦ0 036ｦ0apple6ｦ apple apple076 56ｦ00009fl , fl0ｸ903 04apple S-6ｦ ｦ0, apple0ｸ806 fl6 502fl000306fl apple ｸ apple apple fl apple006ｦ001-0ｷ apple076 56ｦ00009fl [63]. 030ｸ ｦ0096ｦ00007, 0ｹ ｦ002090ｹ ｦ ｸ8 677C > T MTHFR ｸ709000ｸ ｹ ｦ00003 apple apple fl apple ｦ ｨｴ 09 0ｹ ｦ00ｷ ｨ [62]. ｨｴ apple090300apple apple09apple ｦ003070ｹ ｸ9 6 7apple6ｦ000090ｷ apple apple ｹ0000ｸ apple090ｹ0000ｸ803 0ｹ ｦ00ｷ ｦ apple076 5, ｦ00ｸ90ｸ , ｹ ｹ ｹ fl ｦ fl096ｦ0000ｸ apple07000ｸ8, ｦ0fl ｦ ｦ0 0708apple fl ｦ ｦ00ｷ3090ｸ ｷ3096ｦ ｸ ｦ apple076 56ｦ00009fl (CpG apple ) apple apple ｸ8, ｹ ｸ ｹ ｹ ｹ ｦ apple fl0ｷ ｹ apple apple apple07000ｸ8, 0ｹ ｹ ｦ ｸ ｹ06ｦ00ｸ ｦ apple ｦ ｦ0 09, 01apple , ｦ ｷ3090ｸ ｹ ｸ ｦ00ｷ ｦ ｦ apple076 56ｦ00009fl apple076 56ｦ ｷ ｦ [64]. ｨｦ ｹ ｹ ｦ00ｷ fl6 5-02fl030006fl 09 6ｦ apple6ｦ apple6ｦ009. ｨｪ6ｦ001, 006ｦ008apple090300apple, 0ｸ ｦ0096ｦ00007, 0ｹ ｦ00ｷ ｦ003 Dnmt3a 09 Dnmt3l ｸ apple apple ｦ0 09 apple6ｦ ｹ103 apple ｦ [65]. ｨｦ 006ｦ00107, 016ｦ ｹ06ｦ , 04 0ｹ ｦ ｦ00ｷ apple6ｦ apple6ｦ ｦ ｦ0apple ｸ8 08apple ｦ ｦ0apple ｦ fl apple ｦ ｹ06ｦ0fl03 09apple ｸ8apple ｦ ｦ0 [17] apple apple apple apple076 56ｦ ｦ0fl 03apple6ｦ apple09080ｷ309fl DNMT1, DNMT DNMT305, apple6ｦ0fl 006ｦ0apple04046ｦ fl fl03, ｦ apple ｸ fl 0ｹ apple DNMT1, DNMT ｸ apple ｹ apple ｹ fl DNMT305 [66] ｦ0fl 0603apple apple6ｦ apple6ｦ apple6ｦ apple ｸ apple ｦ06 76ｦ ｦ002090ｹ apple6ｦ apple6ｦ009000ｸ803 apple fl0307apple000ｸ803 0ｹ ｨｨ07016ｦ0096ｦ0006ｦ0 apple ｦ0 DNMT3L 6 5 apple fl0ｷ apple076 56ｦ00009fl de novo ｦ apple ｦ , 6ｦ ｦ ｷ3096ｦ00ｷ ｦ00ｷ ｦ ｹ ｸ fl ｷ3090ｸ9 03apple6ｦ apple09080ｷ apple0008apple apple6ｦ0 [67]. DNMT3L apple07fl6 502fl apple6ｦ apple6ｦ ｦ , 036ｦ ｦ ｸ apple070ｹ000000ｸ ｸ90ｹ ｸ803 6ｦ ｸ , apple0003fl apple ｦ DNMT3A 09 DNMT3B 09 08applefl ｦ ｨｦ ｦ apple fl0ｷ ｹ apple DNMT3L fl6 502fl000306fl apple ｦ apple apple apple ｦ , 0ｹ apple fl ｦ0 Dnmt3L 0ｸ8026ｦ ｹ000006ｦ ｹ103 apple ｦ ｸ ｸ ｦ ｸ80409, 08apple090ｹ ｦ000000ｸ800 CpG ｸ8 0ｹ ｦ ｦ0096ｦ apple076 56ｦ0000ｸ8, apple0003fl 016ｦ apple00000ｷ309apple076 56ｦ000000ｸ ｦ ｦ apple076 56ｦ fl [68] DNMT1 0ｹ ｦ ｦ ｸ apple apple000ｸ ｹ06ｦ ｦ ｷ3096ｦ00ｷ30909, apple0ｸ apple6ｦ apple09080ｷ309fl. ｨｦ 026ｦ ｦ apple apple6ｦ ｦ0 DNMT1 ｨC P ｹ06ｦ fl 006ｦ002090ｹ CpG ｦ , apple0003fl 016ｦ ｦ apple000ｸ803 08apple apple076 5 ｨｺ2ｨCｨｺ ｸ903 [69] Dnmt1 030ｸ apple fl0307apple000ｸ806 0ｹ ｨｺ-1, apple0ｸ806 6ｦ apple fl 0ｹ000apple0009 Ras-Jun-08apple ｸ ｦ ｸ apple0008apple apple fl Rb apple apple ｨｨapple apple006ｦ0fl ｦ ｹ ｦ apple CpG , 6 50ｸ fl0ｸ90ｸ ｷ3090ｸ apple6ｦ fl0009fl apple076 56ｦ00009fl ｦ0. 046ｦ0

12 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ ｦ ｹ ｦ000000ｸ apple apple076 56ｦ0006ｦ ｦ0 07 apple fl0ｷ ｹ apple ｦ0 DNMT apple09000ｷ apple6ｦ fl0909, ｦ apple076 56ｦ000006ｦ0fl apple apple ｹ apple ｸ ｦ0 DNMT1 6 5 cis ｨｪ6ｦ ｨBfl ｦ fl ｦ0apple6ｦ ｦ ｸ803 fl ｸ ｦ00009fl 6 5 apple6ｦ ｸ ｦ ｸ apple076 56ｦ00009fl ｦ0 006ｦ ｸ apple fl apple6ｦ apple6ｦ ｦ [70]. ｨｨapple070ｷ ｹ ｦ003090ｹ ｦ ｸ ｦ00ｷ ｦ apple076 56ｦ ｦ apple6ｦ apple6ｦ009. ｨｪ6ｦ001, ｦ00ｷ309fl ｦ0090ｸ8 Dnmt36ｦ ｸ SUMO-1 apple apple ｦ ｦ00ｷ ｦ0096ｦ ｦ ｦ001 03apple6ｦ apple09080ｷ apple0008apple apple6ｦ0 [71]. ｨｦ0607 0ｸ apple0702fl apple076 56ｦ00009fl apple ｦ0 04apple ｸ ｦ , 026ｦ apple 03apple6ｦ apple0908-0ｷ30909 Sp1 0ｹ06ｦ ｸ86 56ｦ ｦ ｷ30909apple076 56ｦ apple076 56ｦ000000ｸ80309 CpG apple ｦ00309, 096ｦ008apple000ｸ76ｦ0fl 0903 de novo apple076 56ｦ apple ｦ0fl, 036ｦ apple6ｦ , ｸ9 0ｹ apple ｸ9 [72] apple apple076 56ｦ000000ｸ ｦ0apple ｹ ｹ ｦ ｦ0 036ｦ ｹ000apple apple fl0ｷ ｦ ｸ apple0ｸ , 006ｦ008apple090300apple 05TCF. ｨｴ ｦ0 6ｦ ｸ8apple6ｦ ｸ803 0ｹ100036ｦ apple apple040ｸ90ｸ ｹ , apple0ｸ806 0ｸ802 08apple apple09apple076 56ｦ ｸ ｦ0 08apple apple apple0702fl 09ｨ 1 IGF2/H19. CTCF fl090ｸ86 56ｦ00ｸ90ｸ , fl0ｸ ｦ0 11 0ｷ ｸ ｦ002000ｷ3006 5, apple0ｸ806 0ｹ ｷ ｹ fl090ｸ86 56ｦ fl apple076 56ｦ apple076 56ｦ fl ｦ ｸ ｦ ｦ apple07036ｦ ｦ00ｷ ｦ fl090ｸ86 56ｦ00009fl 08apple fl apple CTCF apple076 56ｦ ｹ100036ｦ apple, 6ｦ ｹ ｷ3096ｦ ｸ ｦ fl090ｸ86 56ｦ00009fl, 006ｦ0-08apple , ｦ ｹ apple [73]. 01apple , 0ｸ ｦ0096ｦ00007, 0ｹ ｹ ｸ8 CTCF ｸ ｷ309apple076 56ｦ0000ｸ apple apple fl0307apple000ｸ ｦ ｨｪ6ｦ001, apple076 56ｦ apple ｦ apple apple6ｦ0090ｸ ｦ ｹ100036ｦ apple apple040ｸ90ｸ CTCF ｸ80409, 0ｹ apple ｦ ｦ00ｷ ｹ apple Igf2 006ｦ0 036ｦ00300apple apple [74] , ｸ800 CTCF, ｹ ｦ ｷ309apple076 56ｦ000000ｸ806 BORIS (Brother of Regulator of Imprinting Cites) ｨC 086ｦ0apple6ｦ CTCF, apple6ｦ ｸ90ｹ ｸ9 apple apple fl0ｷ ｹ apple apple apple076 56ｦ000000ｸ , 6ｦ0 036ｦ ｹ ｦ ｦ00009fl 0ｹ ｹ ｦ ｦ0, ｦ00ｸ90306fl 6ｦ ｷ309-09apple076 56ｦ000000ｸ ｦ006036ｦ fl090ｸ86 56ｦ00009fl apple0003fl ｹ fl [75, 76]. ｨｬapple S-6ｦ ｦ0 02fl apple006ｦ0010ｷ apple076 56ｦ00009fl ｦ ｦ ｹ ｦ ｦ ｦ , apple086ｦ00009fl ｸ ｦ ｦ0 B apple ｨｨ070ｹ , 0ｹ ｹ ｹ ｦ , apple , ｦ apple6ｦ00ｷ ｦ0. ｨｪ6ｦ ｦ0 020ｸ fl 0ｸ ｦ0000ｸ8 08apple ｦ apple6ｦ ｹ0000ｸ ｸ apple6ｦ ｦ , 6ｦ0 036ｦ ｹ apple ｦ ｦ ｸ ｸ803 [77]. ｨ 006ｦ00ｹ ｸ ｦ ｦ apple apple ｸ ｦ00ｷ ｹ ｹ ｹ ｹ ｦ000000ｸ fl ｦ ｸ803 apple0008apple ｸ ｸ ｸ803 apple apple fl fl apple ｦ0 ｨC 05ｨｴ [45, 78ｨC80]. ｨｨapple ｹ06ｦ ｸ803 fl6 502fl000306fl ｦ00103, 0ｹ apple6ｦ ｹ ｦ000000ｸ ｦ ｦ00009fl0309, apple fl 6 5 apple ｦ ｦ00009fl 08apple070ｷ300 04apple ｨｴ01ｨｦ ｨ 0105ｨ, 0ｸ ｸ8fl ｸ8 0ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｦ0 036ｦ00300apple apple ｦ003, 6ｦ apple076 56ｦ ｨ -05ｨｨ KCNQ1OT1. ｨｦ , 07 ｨBfl0600fl0ｸ90ｸ ｦ000000ｸ ｦ , fl6 502fl000306fl 08apple ｸ803 06apple00, ｸ803 02fl apple076 56ｦ00009fl 6 76ｦ ｹ103 apple , ｹ ｦ appleapple ｦ apple086ｦ ｦ00300apple apple ｦ apple ｸ ｦ ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ00009fl ｦ ｦ ｸ fl ｦ00ｷ ｦ ｨｺ05, apple fl apple fl ｨ 0105ｨ ｨｴ01ｨｦ ｸ90ｸ apple076 56ｦ IGF2/H19 [33] apple apple076 56ｦ PEG1/MEST [49] 006ｦ ｷ apple ｦ003, 04016ｦ0090ｸ8-6 56ｦ00ｸ ｦ ｦ0 00appleapple6ｦ ｸ ｦ00ｷ apple ｦ , ｦ fl0ｸ apple ｸ apple apple076 56ｦ ｷ ｦ PEG1/MEST 04 08apple07 6ｦ ｨｺ05, apple fl 6 5 apple ｦ ｦ00ｹ06ｦ00309fl ｦ apple , apple ｸ ｷ , flfl 08apple ｦ apple0008apple ｸ803 6ｦ0apple0000apple076 5, 08apple fl ｦ ｦ00ｷ apple0ｸ (0ｹ10809) ｹ ｹ , 0ｹ fl apple fl apple07066ｦ apple apple ｸ ｦ ｸ ｦ apple ｹ ｦ00ｷ30906 ( ｹ apple apple076 56ｦ000000ｸ ｦ003) ｸ ｷ309-6ｦ ｸ ｦ00009fl apple6ｦ00608apple070603apple6ｦ fl, apple6ｦ0 09 0ｹ06ｦ ｸ8 6ｦ0 00appleapple6ｦ ｸ803 0ｹ ｹ ｦ0-0ｷ ｦ0 016ｦ001 08apple ｦ ｦ ｸ803 apple0008apple ｸ , 036ｦ apple09 086ｦ apple ｦ0036ｦ ｦ ｸ803 0ｷ ｦ ｨｦ050204ｨ 00 ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ 09 ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ05 ｨｦ ｷ apple6ｦ ｸ apple , , fl6 502fl000306fl ｦ ｦ ｹ apple00 0ｹ apple ｸ ｦ0 apple ｦ ｦ ｦ000090ｸ9 0ｹ ｦ0-0ｷ applefl apple ｹ ｦ ｹ ｦ00ｷ apple ｦ ｦ , 016ｦ , 6 56ｦ fl ｦ0: apple6 50ｸ803, 0ｹ ｹ ｦ00ｷ ｦ0 fl6 502fl-

13 , 056ｦ ｦ0 0ｸ90306fl 07 apple6ｦ ｸ ｸ80309fl0309; apple0ｸ803, 06040ｸ ｸ ｹ apple apple076 56ｦ000000ｸ apple0907 0ｸ ｦ ｹ ｹ apple0008apple076 7apple6ｦ apple076 56ｦ00009fl ｦ0, apple0ｸ ｹ ｦ ｦ ｦ0 00appleapple6ｦ ｸ803 0ｹ ｨｦ0ｹ , 0ｹ ｦ ｦ ｹ ｦ00ｷ applefl apple ｦ ｦ0 0ｹ ｦ0apple0000apple6ｦ ｹ ｸ apple apple ｦ06 502fl ｦ ｦ ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ , ｹ apple07fl ｦ ｦ0 apple fl, 0800apple00 6ｦ ｹ ｦ00ｷ3090ｸ , ｹ06ｦ ｦ00ｷ ｨ 08apple09 Cｨｴ 09 05ｨｨ05 fl6 502fl0ｸ90306fl ｸ ｨｨ ｦ00ｷ ｨ -05ｨｴ 096ｦ003apple6ｦ ｦ00ｸ ｦ00300apple apple , apple00 6ｦ00ｸ90306fl ｹ apple07fl fl 0ｹ000apple ｸ ｸ ｸ ｦ ｹ0000ｸ apple6ｦ ｦ00ｷ ｨ -05ｨｨ05, 096ｦ003apple6ｦ ｦ00ｸ90ｸ ｷ apple , apple07fl6 502fl0ｸ90306fl 08apple apple00 6ｦ00ｹ000 0ｹ000apple ｦ00300apple ｦ ｨｴ ｨBfl0600fl ｸ80ｹ0000ｸ ｦ0apple6ｦ apple 006ｦ ｦ00009fl ｦ0-0ｷ ｨ fl03 (apple ). ｨｪ6ｦ001, ｦ00ｷ309fl 09ｨ -05ｨｨ05, ｦ0 03apple ｦ , apple ｦ ｹ fl , ｸ8006ｦ0. ｨｦ 006ｦ00107, 08apple0706 fl 0ｹ000apple apple036ｦ , 0ｹ1036ｦ ｦ00ｷ309fl ｨｨ ｨｨ ｸ apple6ｦ fl fl 05ｨｴ 03apple fl 08apple ｦ00ｷ ｨ 0ｹ000apple ｦ00300apple ｦ , 0ｹ ｦ0096ｦ000000ｸ ｦ ｦ00009fl ｦ00ｷ ｨ 0608apple6ｦ ｸ8 02fl 03070ｹ ｸ ｦ00ｷ ｷ ｹ apple fl0307apple- 000ｸ ｦ00603fl03. ｨｮ ｦ0066ｦ fl 0800apple6 5090ｹ0000ｸ803 0ｹ ｦ0-0ｷ ｨ, apple ｦ ｦ ｦ fl apple0ｸ8030ｸ apple09 6ｦ0006ｦ apple ｸ ｦ00ｷ ｨｨ05, ｸ90ｸ apple6 5090ｹ0000ｸ800 0ｹ ｦ00ｷ ｦ0096ｦ ｹ ｸ ｦ00ｷ ｨ -05ｨｨ05, 0ｸ ｦ0096ｦ00007, 0ｹ ｦ0 00appleapple6ｦ ｦ0fl 03apple ｦ ｦ0 006ｦ ｦ0026ｦ ｦ ｷ [81]. ｨｨ ｸ9 6ｦ apple ｦ ｦ00009fl, 0ｹ ｸ ｨBfl ｦ0apple apple6ｦ00009fl 6ｦ0 00appleapple6ｦ ｦ00300apple apple ｦ ｦ ｷ ( ), 08apple fl0ｸ apple6ｦ apple6ｦ00ｷ ｦ ｦ000090ｸ9 0ｹ ｦ00ｷ30909, 0ｹ apple09000ｷ ｦ fl 06 apple6ｦ apple ｸ ｸ9 006ｦ ｦ00009fl ｦ00ｷ ｨ. ｨｦ 006ｦ ｦ ｸ ｦ apple076 56ｦ00009fl 09ｨ -05ｨｨ ｷ ｦ ｦ fl0ｸ70006 apple6ｦ apple ｦ ｸ ｸ8-0209, 0ｹ ｦ003apple04 00fl apple08apple00036ｦ00ｷ3090ｸ ｦ ｦ0 006ｦ ｦ00009fl 016ｦ apple00 6ｦ00ｹ ｦ0 00appleapple6ｦ ｦ ｦ apple076 56ｦ00009fl ｦ ｸ fl03 apple ｹ ｦ [81] 0ｸ ｹ apple apple ｸ ｹ ｦ00ｷ309fl ｨ -05ｨｴ ｦ00ｷ ｨｴ. ｨｦ016ｦ0096ｦ , 0ｹ ｦ00ｷ ｦ00ｷ309fl 006ｦ ｦ0026ｦ ｦ , 6ｦ ｨC ｦ00300apple ｨｪ6ｦ ｦ0apple6ｦ apple 006ｦ ｦ00009fl, ｸ9 6ｦ apple076 5 apple6ｦ ｸ8, ｸ ｨBfl ｦ apple ｦ apple6ｦ00009fl apple ｹ , , 6ｦ apple000009fl. ｨｪ , 0603apple applefl, 6 5 6ｦ ｹ06ｦ000 apple000ｹ de novo ｹ ｦ00ｷ309fl03, 6ｦ ｦ ｦ ｹ000apple ｦ fl ｸ ｦ0096ｦ ｹ fl 0ｹ ｦ0-0ｷ apple6ｦ apple ｸ ｸ ｦ003090ｹ ｦ0090ｷ apple076 56ｦ000090ｸ9 09ｨ, 6 50ｸ8fl6 502fl00030ｸ806 08apple090300apple % 086ｦ00ｷ ｨｴ ｦ ｸ fl 036ｦ ｦ0090ｷ ｦ ｦ ｦ0-0ｸ90306fl 0000fl06000ｸ80309, apple ｸ fl- 096ｦ0000ｸ apple076 56ｦ ｨ 6 5 0ｹ06ｦ ｦ003090ｹ ｨｪ apple6 50ｸ ｦ0096ｦ ｦ ｦ00009fl 6ｦ0 00appleapple6ｦ ｸ803 0ｹ apple apple076 56ｦ000000ｸ ｸ ｹ apple6ｦ apple ｹ06ｦ000 apple fl ｹ apple ｨｺ6ｦ ｦ0ｨC apple6ｦ apple070ｷ300 04apple0ｸ8 ｨｴ01ｨｦ ｸ90ｸ apple apple076 56ｦ ｷ ｦ fl ｦ0 PEG1/MEST [49]. ｨｨapple09 6ｦ0006ｦ CpG ｦ apple00000ｷ3096ｦ apple076 56ｦ apple ｦ ｦ ｷ309036ｦ003 08apple07 6ｦ000 6ｦ0 0ｸ ｸ8fl apple076 56ｦ000000ｸ803 0ｷ ｨｨapple ｹ06ｦ , 0ｹ ｷ309036ｦ ｷ36ｦ0 apple ｦ0 0ｹ000030ｸ8apple ｹ CpG ｦ ｦ apple076 56ｦ fl ｨｨapple ｦ06 76ｦ fl, 0ｹ apple036ｦ ｹ ｹ000030ｸ8apple ｦ ｦ0096ｦ ｹ ｸ8 01 apple0008apple076 7apple6ｦ apple076 56ｦ000090ｸ9 09, 01apple , 08apple apple apple076 56ｦ ｸ700 0ｹ000030ｸ8apple0003 apple CpG ｦ ｦ apple apple ｸ8 06 0ｹ ｦ00ｷ ｷ36ｦ0 0ｸ apple ｦ0006ｦ apple07066ｦ ｸ ｨ apple , 0ｹ ｹ apple ｦ0apple0ｸ8 6 5 apple ｦ ｸ ｨｴ01ｨｦ ｦ000036ｦ00ｷ ｦ ｷ apple ｹ00109 ( ｸ ｷ30ｸ8) apple6ｦ0fl ｹ0016ｦ0 0ｸ8026ｦ apple ｦ ｦ ｦ0026ｦ ｷ36ｦ0 03apple , ｸ7040ｸ9 0ｹ ｦ00ｷ PEG1/MEST. 046ｦ0applefl ｦ ｦ ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ apple6ｦ00304apple00 006ｦ00ｹ009006ｦ00ｸ fl6 502fl030006fl ｸ fl apple00 6ｦ00ｹ ｦ003 6ｦ0 00appleapple6ｦ ｸ803 0ｹ ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ ｦ0. ｨｪ6ｦ001, ｸ ｦ0000ｸ8 6 56ｦ0 086ｦ00ｷ ｦ apple ｦ ｸ803 apple6ｦ , ｸ90ｸ ｦ0090ｹ apple apple076 56ｦ apple apple apple ｦ ｦ ｦ0030ｹ0 apple00086ｦ0apple6ｦ00ｷ30909 MLH1 [82]. ｨｴ ｦ00ｷ309fl 036ｦ apple ｦ0026ｦ apple036ｦ ｦ ｸ803, 04016ｦ0090ｸ86 56ｦ0fl 006ｦ ｦ0- apple07 0ｸ ｸ9 0800apple00 6ｦ00ｹ ｦ apple ｦ ｸ apple ｦ ｸ803 apple6ｦ ｸ8026ｦ ｦ0096ｦ0006ｦ0 0800apple00 6ｦ00ｹ06ｦ0 0800apple6 5090ｹ ｹ ｦ00ｷ30909 MLH ｦ00300apple ｸ apple6ｦ ｦ0 00appleapple6ｦ ｹ ｦ apple036ｦ ｦ003 [83]. 046ｦ002090ｹ ｦ apple076 56ｦ00009fl MLH ｦ00300apple09 0ｸ apple ｦ003090ｹ ｦ apple ｦ0- apple07 0ｸ ｸ , 04016ｦ0090ｸ86 56ｦ0fl 006ｦ0 6 76ｦ ｹ apple ｹ ｦ00ｷ ｨｬ ｹ000030ｸ8apple ｸ ｷ309036ｦ apple090200apple090ｹ apple ｦ ｸ ｦ apple076 56ｦ apple076 56ｦ apple apple ｸ8 (42.0 ﾀ 4.6%) 6ｦ MLH1, 08apple09

14 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ ｦ ｷ3 036ｦ ｷ3 036ｦ ｷ3 036ｦ ｷ3 a 036ｦ ｷ3 036ｦ ｷ3 036ｦ ｷ3 036ｦ ｷ3 036ｦ ｷ3(036ｦ003) 036ｦ ｷ3(036ｦ003) 036ｦ ｷ3 036ｦ ｷ3 036ｦ003(07030ｷ3) 07030ｷ3 036ｦ003(07030ｷ3) 07030ｷ3 036ｦ ｷ3 036ｦ ｷ3 05ｨｨ05 05ｨｨ apple036ｦ0 0407apple036ｦ0 05ｨｴ 05ｨｴ 0407apple036ｦ0 0407apple036ｦ0 ｨｺ ｹ apple ｸ800, 07 ｨBfl0600fl0ｸ90ｸ ｦ ｦ ｦ00ｷ ｨ 03apple ｸ8 15, apple040ｸ90ｸ ｦ00300apple (6ｦ0) ｷ ( ) apple , 08apple apple07036ｦ003 ｨｨapple6ｦ0 00apple6ｦ0ｨC ｨｴ ｦ0006ｦ0. ｨｨapple apple00 6ｦ00ｹ ｦ00300apple apple076 56ｦ apple ｦ0 0ｹ000apple apple036ｦ apple07 6ｦ ｷ ｦ00300apple ｹ ｨC 07030ｷ3(036ｦ003), 0ｹ apple apple0309apple076 56ｦ000090ｸ9 05ｨｨ05. ｨｨapple09 08apple apple076 56ｦ ｷ apple ｦ0 0ｹ000apple ｦ00ｷ ｦ fl 036ｦ00300apple ｷ ｹ ｨC 036ｦ003(07030ｷ3), 0ｹ apple apple0309apple076 56ｦ000090ｸ9 05ｨｴ.

15 , 056ｦ ｦ0 0ｹ ｹ apple ｸ806 6ｦ0006ｦ ｦ0096ｦ002 6ｦ ｦ ｦ ｦ ｷ apple ｨｨapple ｦ apple036ｦ ｸ8006ｦ0 6ｦ ｦ apple076 56ｦ00009fl MLH1 6 50ｸ8fl ｸ80207, applefl 006ｦ ｹ ｦ0006ｦ apple ｸ8 07apple ｸ ｦ0-0300apple ｷ ｦ apple ｦ apple6ｦ ｸ803 08apple070807apple0ｷ309fl , ｦ ｦ ｸ8006ｦ0 0ｸ8-026ｦ ｦ ｦ0 apple006ｦ ｦ00ｷ309fl 0ｹ apple ｦ00300apple ｦ fl MLH1, 0ｹ apple apple ｹ ｦ00ｷ apple036ｦ ｦ0. ｨｴ0309 6ｦ000000ｸ ｦ0090ｸ86 56ｦ00ｸ903, 0ｹ ｦ0036ｦ fl6 502fl000306fl ｦ apple036ｦ00ｷ applefl , ｦ ｦ ｦ apple036ｦ00ｷ30909 (0ｹ ｦ0), 0708apple fl0ｸ90ｸ ｷ ｦ ｸ9 6ｦ ｦ apple6ｦ apple ｸ ｹ06ｦ0fl03. ｨｦ ｸ9 036ｦ ｹ ｹ ｦ ｦ00009fl ｸ ｦ apple00 6ｦ00ｹ06ｦ0 0ｹ ｦ00ｷ ｹ000apple , 036ｦ ｦ apple036ｦ ｹ ｹ ｦ ｦ0 6 5 apple apple0003fl ｦ ｦ fl 0000fl06000ｸ803, 0708apple fl000306fl 0209 apple00086ｦ0apple6ｦ00ｷ309fl ｹ ｹ ｦ00ｷ (060800apple036ｦ ), 0ｹ ｦ00ｹ ｹ06ｦ apple apple076 56ｦ000000ｸ , 6ｦ apple0ｸ ｦ ｦ0 apple fl, apple00 6ｦ ｦ apple6ｦ apple ｸ apple090300apple apple ｦ ｸ803 apple6ｦ ｹ ｦ00ｷ apple apple076 56ｦ ｦ0 MLH1 08apple ｦ06 76ｦ fl 006ｦ ｦ ｹ ｹ ｦ00ｷ ｦ00300apple ｸ80004, 0007 apple00086ｦ0apple6ｦ00ｷ309fl 6ｦ0 00appleapple6ｦ ｹ ｦ apple036ｦ ｦ ｦ apple0ｸ8 apple6ｦ ｸ8 [83] ｸ90ｹ06ｦ00ｸ903, 0ｹ ｹ ｦ00ｷ309fl ｦ00300apple ｸ8006ｦ apple ｹ ｦ ｦ ｦ , 6ｦ ｦ ｦ fl. ｨｨ ｸ ｦ0-0ｷ3090ｸ fl apple6 76ｦ apple090300apple apple ｨｺ6ｦ ｦ0ｨC apple6ｦ0, ｹ ｹ ｦ PEG1/MEST apple036ｦ ｦ ｷ36ｦ ｦ ｸ802. ｨｨ070ｹ ｦ fl ｦ fl apple ｦ0 0800apple6 5090ｹ0000ｸ803 0ｹ ｦ00ｷ apple00086ｦ0apple6ｦ00ｷ applefl , ｦ ｦ003070ｹ ｸ flapple000ｸ apple , 07 ｨBfl0600fl0ｸ90ｸ ｸ ｦ ｸ8 0ｹ ｹ ｦ ｦ00009fl , 040ｹ009030ｸ86 56ｦ0fl apple6ｦ apple ｦ fl0ｸ apple00 apple6ｦ apple6ｦ ｹ ｦ00ｷ apple apple076 56ｦ000000ｸ , ｹ apple090ｹ fl, ｹ ｹ ｦ ｦ00009fl 08apple ｦ06 502fl000306fl 0ｹ0apple ｸ80ｹ06ｦ ｦ ｦ ｸ ｦ008apple6ｦ apple ｹ ｦ0, apple6ｦ applefl0ｸ90ｸ ｦ apple ｦ fl 07 0ｹ ｹ ｦ ｦ ｸ ｦ ｦ ｨ ｦ apple086ｦ apple6ｦ ｨｺ0606ｨ (6ｧ ). 05ｨｨｨ 05ｨｦ01 00ｨ ｨｪ00ｨｺ02ｨｪｨｬｨｺ01 1. Jablonka E. Epigenetic epidemiology // Int. J. Epidemiology V. 33. P. 929ｨC Whitelaw N.C., Whitelaw E. How lifetimes shape epigenotype within and across generations // Hum. Mol. Genet V. 15. R131ｨCR Santos-Rebou0ﾋ9as C.B., Pimentel M.M.G. Implication of abnormal epigenetic patterns for human diseases // Eur. J. Hum. Genet V. 15. P. 10ｨC Holliday R. The inheritance of epigenetic defects // Science V P. 163ｨC Horsthemke B. Epimutations in human disease // Curr. Top. Microbiol. Immunol V P. 45ｨC Reik W., Walter J. Genomic imprinting: Parental influence on the genome // Nat. Rev. Genet V. 2. P. 21ｨC Warren S.T., Sherman S.L. The fragile X syndrome // The Metabolic and Molecular Bases of Inherited Disease / Eds Scriver C.R., Beaudet A.L., Valle D., Sly W.S. N. Y.: McGraw Hill, P. 1257ｨC Gabellini D., Green M.R., Tupler R. Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle // Cell V P. 339ｨC Bickmore W.A., van der Maarel S.M. Perturbations of chromatin structure in human genetic disease: recent advances // Hum. Mol. Genet V. 12. R207ｨCR ｦ0096ｦ0apple ｨｴ ｹ ｦ00ｷ ｦ ｹ ｦ0 // ｦ ｨｪ. 3. 6ｧ ｨC ｦ0000ｸ apple076 56ｦ ｹ ｦ0 // ｦ ｨｪ ｧ ｨC1199. (Vanyushin B.F. DNA methylation and epigenetics // Rus. J. Genetics V ｧ8 9. P. 985ｨC987.) 12. ｨｮ04apple flapple000ｸ ｦ ｸ8 0ｹ // fl ｨｪ ｧ ｨC Bird A. DNA methylation patterns and epigenetic memory // Genes Dev V. 16. P. 6ｨC Li E. Chromatin modification and epigenetic reprogramming in mammalian development // Nat. Rev. Genet V. 3. P. 662ｨC Martin D.I.K., Ward R., Suter C.M. Germline epimutation: A basis for epigenetic disease in human // Ann. N.Y. Acad. Sci V P. 68ｨC Jablonka E., Lamb M. Epigenetic inheritance systems // Evolution in Four Dimensions / Eds Jablonka E., Lamb M. MIT Press, P. 242ｨC Van den Veyver I.B., Al-Hussaini T.K. Biparental hydatidiform moles: A maternal effect mutation affecting in the offspring // Hum. Reprod V. 12. P. 233ｨC Devriendt K. Hydatidiform mole and triploidy: the role of genomic imprinting in placental development // Hum. Reprod. Upd V. 11. P. 137ｨC Judson H., Hayward B.E., Sheridan E., Bonthron D.T. A global disorder of imprinting in the human female germ line // Nature V P. 539ｨC El-Maarri O., Seoud M., Coullin P. et al. Maternal alleles acquiring paternal methylation patterns in biparental

16 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ complete hydatidiform moles // Hum. Mol. Genet V. 12. P. 1405ｨC Nicholls R.D., Knepper J.L. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes // Ann. Rev. Genomics Hum. Genet V. 2. P. 153ｨC Ohta T., Gray T.A., Rogan P.K. et al. Imprinting-mutation mechanisms in Prader-Willi syndrome // Am. J. Hum. Genet V. 64. P. 397ｨC Perk J., Makedonski K., Lande L. The imprinting mechanism of the Prader-Willi / Angelman region // EMBO J., V. 21. P. 5807ｨC Steffenburg S., Gillberg C.L., Steffenburg U., Kyllerman M. Autism in Angelman syndrome: a population-based study // Pediatr. Neurol V ｧ8 2. P. 131ｨC Rougeulle C., Cardoso C., Fontes M. et al. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript // Nat. Genet V. 19. P. 15ｨC Bielinska B., Blaydes S.M., Buiting K. et al. 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18 13ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ ｨ ｨ 02ｨｨｨｺｨ 04ｨｪｨ ｨｺｨｦ ｨｦ ｨｦ0200 ｨｮ0000ｨｦ Epimutations of Imprinting Genes in the Human Genome: Classification, Causes, Association with Hereditary Pathology I. N. Lebedev and E. A. Sazhenova Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, Russia; Genomic imprinting is an epigenetic phenomenon characterized by monoallelic expression of the genes depending on their parental origin. The molecular basis of this expression is covalent modifications of DNA and histones that are formed during maturation of germline cells. Abnormalities of the establishment of genome imprinting during gametogenesis or its maintenance at various stages of development, caused by aberrant epigenetic modifications of the chromatin, predominantly disturbance of DNA methylation state, are a form of mutational variability of imprinted genomic loci. In this review, we consider the spectrum of epimutations of imprinted genes, present their classification, and discuss possible causes of their appearance and their role in etiology of hereditary human diseases.