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 ; igor.lebedev@medgenetics.ru 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