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2 ｨC 096ｦ008090600 08070207-0608000ｷ30902090ｹ000076 707 090308apple09000309006 76ｦ0 6 5 6 76ｦ00300036ｦ003; [2] ｨC 6 7090807030003090ｹ00006010700 08apple07 07020800000900 0207apple0309apple076 56ｦ00009fl 090308apple09000309006 76ｦ0 6 5 000001070307apple0ｸ803 02070104066ｦ003 006ｦ0 apple6ｦ000000903 0ｹ1036ｦ0086ｦ003 0807060309096 70703090ｹ0000601076 707 apple6ｦ0096 5090309fl; 3 ｨC 0807060309096 70703090ｹ00006010700 0807 00apple086ｦ0000900 090308apple09000309006 76ｦ0; 4 ｨC 0807 00apple086ｦ0000900 090308apple09000309006 76ｦ0 0807060200 07 070607 02000009fl 096ｦ0apple07 0ｸ804006 50ｸ803 0209060301076 5. 0ｹ1030706 6 50702000ｸ8 apple0008apple076 7apple6ｦ0030309apple076 56ｦ00009fl 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003, 060703apple6ｦ000flfl 09020200apple00000ｷ3096ｦ00200000ｸ806 apple090604000701 0300-03090209apple076 56ｦ00009fl, 006ｦ0060200 076 56ｦ000000ｸ806 0703 apple07 090300020006. 046ｦ0apple0404000009fl 0ｹ108096 700000003090ｹ0000601076 707 apple0008apple076 7apple6ｦ0030309apple076 56ｦ0-0009fl (070306040306036 50900 00030003090209apple076 56ｦ00009fl 016ｦ0010903-0209 07 02070104-06076 5 090209, 006ｦ008apple0703096 5, 6ｦ0 00appleapple6ｦ00003000700 030003090209apple076 56ｦ0000900 040ｹ06ｦ0060301076 5 6 7000007036ｦ0, 01070307apple0ｸ800 6 5 0007apple0300 0000 070208000ｸ8 0807-6 500apple6 76ｦ0030006fl 030003090209apple076 56ｦ000090ｸ9 016ｦ001 6 5 6 76ｦ00300036ｦ003, 036ｦ001 09 6 5 0607-036ｦ003090ｹ00006010903 01020003016ｦ003) 03076 70403 07016ｦ0090ｸ86 56ｦ00300 06040ｸ70006036 50000000700 6 50209fl000900 006ｦ0 0ｹ1010608apple000606090ｸ9 6 70000076 5 09 02000007030908090ｹ00006010900 08apple09-09006ｦ00109. 0307020000 03076 707, 036ｦ0010900 0ｹ108090304036ｦ00ｷ30909, 6 50709000901040900 006ｦ0 apple6ｦ000000903 0ｹ1036ｦ0086ｦ003 apple6ｦ0096 5090309fl 000ｸ700 07 07 070607 02000009fl 080702076 50706 0209000909, 08070300000ｷ3096ｦ002000007 03076 70403 0ｸ80300 0800apple00 6ｦ0000ｸ8 060200 040ｸ9-0ｸ7000304 08070107020000090ｸ9 08apple09 040602076 50909, 0ｹ00307 070009 07016ｦ008040306fl 04060307060ｹ0096 50ｸ80309 01 apple0008apple076 7apple6ｦ0030309apple076 56ｦ000090ｸ9 6 5 080702076 50ｸ803 01020003016ｦ003. 05 066 5fl0909 06 0ｹ1030903 000001070307apple0ｸ800 0906060200 076 56ｦ003000209 0000 090601020ｸ90ｹ06ｦ00ｸ903 6 507090307080007060309 0300060703090ｹ0000601076 707 006ｦ0060200 076 56ｦ0-0009fl 0ｹ108090304036ｦ00ｷ30906 6 5 applefl 04 080701070200000906 [1, 2, 15, 16]. 0100020505ｨ 06ｨ 010209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050204040107 070004ｨｦ05 ｨｨapple090009036ｦ0fl 6 507 6 50009036ｦ0000900 apple6ｦ00606030703apple0000000ｸ800 6 50ｸ80400 0807-020708000009fl 07 0ｹ108096 700000003090ｹ00006010903 0307 090209016ｦ00ｷ309fl03 6 7000007-036ｦ0, apple6ｦ009000707 apple6ｦ0090900 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 08apple00 06036ｦ06 502fl000306fl 6 50709030708000ｸ803 0609060300036ｦ003090909apple07-6 56ｦ00300 0000060107020001090309 060200 040ｸ90ｸ7090309 0608070607 6ｦ00309: 1. 01026ｦ00606090209016ｦ00ｷ309fl 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 0807 096ｦ003apple6ｦ06 7096 56ｦ000030ｸ803 02070104066ｦ003 1.1. ｨｴ08090304036ｦ00ｷ30909, 6 50ｸ8090ｸ86 56ｦ00ｸ90ｸ70900 0307036ｦ00200000ｸ800 006ｦ0- apple0404000009fl 6 70000070300076 707 090308apple09000309006 76ｦ0 006ｦ0 04apple076 50000 0ｷ3000207-6 707 6 7000007036ｦ0. 1.2. ｨｴ08090304036ｦ00ｷ30909 6 5 0ｷ3000003apple6ｦ003 090308apple09000309006 76ｦ0. 1.3. ｨｴ08090304036ｦ00ｷ30909 6 5 0703 000200000ｸ803 090308apple09000309apple076 56ｦ000-000ｸ803 6 700006ｦ003. 2. 01026ｦ00606090209016ｦ00ｷ309fl 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 0807 08apple070906030708 0000090ｸ9 2.1. 076ｦ0030003090ｹ00006010900 0ｹ108090304036ｦ00ｷ30909: 2.1.1. ｨｦ0409 0109 060309apple6ｦ00009fl 6 70000070300076 707 090308apple0900030900-6 76ｦ0 6 507 6 5apple0003fl 6 76ｦ0030003076 7000000096ｦ0 ｨC 060703apple6ｦ00000000900 030003090200-000ｸ803 6 7apple04080809apple076 50701 6 5 apple006 70402fl0307apple000ｸ803 07 026ｦ00603fl03 0903-08apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 (01apple0903090ｹ00006010906 0800apple0907 1 006ｦ0 apple0906. 1). 2.1.2. ｨｦ0409 0109 096ｦ008090609 6 70000070300076 707 090308apple09000309006 76ｦ0 6 5 6 76ｦ0030003076 70000000900 (01apple0903090ｹ00006010906 0800apple0907 2 006ｦ0 apple0906. 1): 2.1.2.1. ｨｦ0306040306036 50900 030003090209apple076 56ｦ00009fl 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 01070307apple0ｸ800 6 5 0007apple0300 070208000ｸ8 0807 6 500apple6 76ｦ0030006fl 030003090209apple076 56ｦ000090ｸ9 6 5 060800apple036ｦ0-0307090709 6ｦ003 090209 07070ｷ309036ｦ003. 2.1.2.2. 02 00appleapple6ｦ00003000700 030003090209apple076 56ｦ0000900 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 01070307apple0ｸ800 0000 070208000ｸ8 0807 6 500apple6 76ｦ0030006fl 030003090209apple076 56ｦ000090ｸ9 6 5 060800apple036ｦ00307090709 6ｦ003 090209 07070ｷ309036ｦ003. 2.2. 0507036ｦ003090ｹ00006010900 0ｹ108090304036ｦ00ｷ30909:
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56ｦ0000900 00006ｦ00103096 500076 707 07030ｷ3076 5-0601076 707 6ｦ002020002fl 090308apple09000309apple076 56ｦ00000076 707 6 700006ｦ0. 3.3. 07090800apple030003090209apple076 56ｦ0000900 6ｦ00103096 500076 707 036ｦ00300apple0900-0601076 707 6ｦ002020002fl 090308apple09000309apple076 56ｦ00000076 707 6 700006ｦ0. 3.4. 07090800apple030003090209apple076 56ｦ0000900 6ｦ00103096 500076 707 07030ｷ3076 5060107-6 707 6ｦ002020002fl 090308apple09000309apple076 56ｦ00000076 707 6 700006ｦ0. 05 036ｦ0 02090ｷ300 08apple00 06036ｦ06 5020000 0608000103apple 030007apple0003090ｹ000060109 6 50709-030708000ｸ803 0ｹ108090304036ｦ00ｷ30906, 070600076 56ｦ000000ｸ806 006ｦ0 010703 09006ｦ00ｷ30909 6 50307apple0706 09 03apple0003000006 08apple00 0207080000000ｸ803 01026ｦ00606090209016ｦ00ｷ30906, 09 08apple096 500 00000ｸ8 08apple090300apple0ｸ8 006ｦ0060200 06036 50000000ｸ803 09 0700010702076 7090ｹ000-06010903 096ｦ0 0702006 56ｦ0000906, 6 5 0ｹ103090702076 70909 01070307apple0ｸ803 0ｸ8026ｦ0 0807016ｦ0-096ｦ0006ｦ0 apple070200 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006ｦ002090ｹ00909 6 5 09096 7070300 6 50403 6 700000703076 5 07030ｷ3076 50601076 707 08apple070906030708 000009fl (6ｦ000 apple076 700000003090ｹ00006016ｦ0fl 0908020709 09fl) [18]. ｨｪ6ｦ0010706 016ｦ0apple09-07030908 0207apple0309apple04000306fl 08apple09 07080207 07036 507apple00000909 fl060ｷ300-010200030109, 0403apple6ｦ003096 5040006 066 50706 6 700000703, 6 76ｦ008020709 000ｸ803 060800apple036ｦ00307090709 0703 06 0807060200 040ｸ90ｸ70006 04080209016ｦ00ｷ3090006 0703-0ｷ3076 50601076 707 6 7000007036ｦ0 6 5 09096 7070300. 0202000300apple006ｦ003096 5000ｸ803 0300036ｦ0-000909030703 0307080003 fl6 502fl030006fl 09060800apple03000700 07080207 07036 507apple00000900 07070ｷ309036ｦ0, 020904000000076 707 03apple07030706070300076 707 006ｦ0 07apple6ｦ0 6 5060200 06036 50900 6ｦ00007036ｦ00200000706 06006 7apple006 76ｦ00ｷ30909 03apple070307060703 6 5 080702flapple000ｸ800 030002000ｷ36ｦ0. 0006030006036 500000007, 0ｹ00307 08apple09 036ｦ0010703 016ｦ0apple09-0703090800 006ｦ0apple04046ｦ0000306fl 6ｦ0026ｦ00006 07090ｸ8 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 07030ｷ3076 50601076 707 09 036ｦ00300apple09000601076 707 08apple070906030708 000009fl: 0ｹ1010608apple00060609fl 07030ｷ3076 506010903 6ｦ0020200020006 046 50002090ｹ0096 56ｦ0000306fl 6 5 2 apple6ｦ0-096ｦ0, 03076 7 6ｦ0 016ｦ001 08apple07 0401030ｸ8 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 0ｹ1010608apple00060609apple040ｸ90ｸ7090306fl 090601020ｸ90ｹ009030002000007 06 036ｦ00300apple090006010903 6ｦ0020200020006, 08070200070603000ｸ9 09060ｹ000096ｦ00ｸ903. 05 070ｹ0000000 apple00 010903 0602040ｹ06ｦ0fl03 (08076 50307apple000ｸ800 0804090ｸ8apple000ｸ800 096ｦ00007060ｸ8 090209 0600030006000ｸ800 0602040ｹ06ｦ009 0ｹ1030706 086ｦ0030702076 70909) 0309-08090ｹ0006ｦ0fl 016ｦ0apple0309006ｦ0 08070200076 707 6 709 6ｦ00309 090207apple0300076 707 030702fl apple6ｦ0096 5096 56ｦ0000306fl 09 08apple09 0007apple036ｦ00200000703 09apple07 090300020006010703 0908020709 000703 016ｦ0apple090703090800 09096 707030ｸ8. ｨｬ06036ｦ000076 502000007, 0ｹ00307 6 5 0ｹ1030903 0602040ｹ06ｦ0fl03 08apple0709060307 0903 006ｦ0apple040400000900 036ｦ0apple6ｦ0010300apple6ｦ0 030003090209apple076 56ｦ00009fl 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 006ｦ0 apple6ｦ009-000ｸ803 036ｦ00300apple090006010903 03apple0703070607036ｦ003. ｨｪ6ｦ001, 09020200apple00000ｷ309-6ｦ002000007 030003090209apple076 56ｦ000000ｸ800 apple6ｦ00607000ｸ8 090308apple09000309apple076 56ｦ000-000ｸ803 0207010406076 5 KCNQ1OT1, PEG1, PEG3/ZIM2, SNURF-SNRPN, 0ｹ101090700 102 09 08apple0703070307apple000ｸ806 040ｹ06ｦ006030701 NESPAS/XLｦﾁ S 6 700006ｦ0 GNAS1, 030003090209apple076 56ｦ000000ｸ800 6 5 0007apple0300 006ｦ0 036ｦ00300apple090006010903 03apple0703070607036ｦ003, 08apple09 03ｨｨｨｨｨ 07016ｦ0090ｸ86 56ｦ00ｸ90306fl 6 5 0000030003090209apple076 56ｦ000000703 0607060307fl000909 [19, 20]. 050ｸ806016ｦ0090ｸ86 56ｦ0000306fl 08apple00 080702070800000900, 0ｹ00307 03ｨｨｨｨｨ 07 040602076 5020000 0800apple6 5090ｹ0000ｸ80309 0ｹ108090304036ｦ00ｷ309fl0309, 6ｦ0 090300000007 6 70207 6ｦ00200000ｸ803 006ｦ0apple04040000090003 030003090209apple076 56ｦ00009fl 090308apple0900-0309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 07070ｷ309036ｦ003 04 036ｦ00300apple09 (08. 2.1.2.1, 09 000600 09 6ｦ0020000 ｨC 0804000103 6 5 01026ｦ00606090209016ｦ00ｷ30909 0ｹ108090304036ｦ00ｷ30906) [17]. 026ｦ00300apple090006010900 6ｦ00202000209 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 08apple0907 apple00036ｦ00ｸ903 07030ｷ3076 506010906 0ｹ108096 7000007030908 09 6 5 070300070400000909 096ｦ003apple6ｦ06 7096 56ｦ000030ｸ803 6 70000076 5 020400010ｷ30907006ｦ002000007 036ｦ0010700 0607060307fl- 000900 0ｹ1016 5096 56ｦ0020000030007 006ｦ0060200 076 56ｦ000090ｸ9 07 070903 6ｦ0020200020006 0703 07030ｷ36ｦ0, 016ｦ001 08apple09 01026ｦ00606090ｹ00006010703 080702000703 0804090ｸ8apple000703 096ｦ00007-0600 (apple0906. 2). 05 0307 0800 6 5apple0003fl 6ｦ0006ｦ0020909 apple07 070602076 5000ｸ803 06 03ｨｨｨｨｨ 04016ｦ0-090ｸ86 56ｦ00003 006ｦ0 6ｦ00403070607030007-apple000ｷ3000606096 5000ｸ806 036ｦ0apple6ｦ0010300apple 6ｦ000000706 086ｦ0030702076 70909 [17]. ｨｨapple00 0807026ｦ06 76ｦ0000306fl, 0ｹ00307 6 5 070600076 500 03ｨｨｨｨｨ 03076 70403 0200086ｦ00300 0304036ｦ00ｷ30909 6 700006ｦ0 090209 6 70000076 5, 07036 5000306036 50000-000ｸ803 096ｦ0 0406036ｦ000076 50200000900 6 70000070300076 707 090308apple09000309006 76ｦ0 6 5 0707-6 70000000900. ｨｦ 00090309 0909 036ｦ0010903 016ｦ000 09 6ｦ003000ｸ803 6 70000076 5 03076 70209 0ｸ8 0ｸ80300 6 700000ｸ8 050401-030003090203apple6ｦ000060200apple6ｦ009, 07 006ｦ00107 0903 0600-016 5000009apple076 56ｦ0000900 0000 6 50ｸ8fl6 5090207 03070ｹ001076 50ｸ803 0304036ｦ00ｷ30906. ｨｨ07-060200 040ｸ90ｸ70900 08070200076 700000703000ｸ800 0906060200 076 56ｦ00009fl 0807096 5070209-0209 0406036ｦ000076 5090300 060ｷ300080200000900 03ｨｨｨｨｨ 06 apple006 70907000703 19q13.42, 0007 01070001apple0003000ｸ806 6 70000, 0708apple00 0002fl0ｸ90ｸ70906 apple6ｦ0096 509-030900 6ｦ000000706 086ｦ0030702076 70909, 0807016ｦ0 0000 07 006ｦ0apple04080000. ｨｨapple00-06036ｦ06 502fl000306fl 09000300apple0006000ｸ803, 0ｹ00307 06apple00 09 60 09 0000030902090ｷ309apple076 56ｦ000000ｸ803 0ｹ1010608apple00060609apple040ｸ90ｸ7090306fl 03apple6ｦ0000601apple090803076 5 6 5 0ｹ1030703 apple006 709070000 00060300 08apple0703000900 06 SET- 070300000703, 08apple0906040306036 5040ｸ9-0ｸ70903 6 5 07020004090006036 500 09096 5000603000ｸ803 090209 08apple00 0807026ｦ06 76ｦ000030ｸ803 6 70906030700076 50ｸ803 030003090203apple6ｦ000060200apple6ｦ009, 07 006ｦ00107 03070ｹ001076 50ｸ800 0304036ｦ00ｷ30909 6 5 0107 09apple040ｸ90ｸ70903 apple006 70907006ｦ003 6 70000076 5 030003090203apple6ｦ00006-0200apple6ｦ009 6 70906030700076 5 04 0800000ｸ70900 06 03ｨｨｨｨｨ 036ｦ0010800 0000 0ｸ80209 07 006ｦ0apple040800000ｸ8. ｨｪ6ｦ0010903 07 apple6ｦ0090703, 0807016ｦ0 0000020009fl 0807020007-0603000ｸ9 090601020ｸ90ｹ0090300 03076 707, 0ｹ00307 09apple07 090300020006010906 0804090ｸ8apple- 000ｸ806 096ｦ0000706 0307080003 07016ｦ0096ｦ0030006fl apple0009040200036ｦ0030703 0000 0800apple6 5090ｹ0-000ｸ803, 6ｦ0 6 50307apple090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906 06 trans-0ｹ102020001030703. ｨｴ08090304036ｦ00ｷ30909 6 5 0ｷ3000003apple6ｦ003 090308apple09000309006 76ｦ0 0307020004090006036 507 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 6 700-00070300 0ｹ00002076 500016ｦ0 apple6ｦ006080702070800000ｸ8 6 5 01026ｦ0060300apple6ｦ003 09 006ｦ00307- fl0306fl 0807 07 0ｸ70903 01070003apple07020003 09ｨ, 01070307apple0ｸ806 09 fl6 502fl- 000306fl 0000080706apple00 06036 50000000706 0309040000000ｸ9 030003090209apple076 56ｦ00009fl.
131360 0000 00 006 5, 056ｦ0080000076 56ｦ0 0508000103apple 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 04 0ｹ00002076 500016ｦ0 076ｦ0030003090ｹ00006010900 0ｹ108090304036ｦ00ｷ30909 0507036ｦ003090ｹ00006010900 0ｹ108090304036ｦ00ｷ30909 ｨｪ0908 0ｹ108090304036ｦ00ｷ30906 ｨｦ0409 0109 060309apple6ｦ00009fl 6 70000070300076 707 090308apple09000309006 76ｦ0 06 060703apple6ｦ0000000090003 030003090200000ｸ803 070308000ｹ06ｦ00301076 5 (01ｨｨ-1) ｨｦ0306040306036 50900 030003090209apple076 56ｦ00009fl 6ｦ002-0200020006, 01070307apple0ｸ800 070208000ｸ8 0807-6 500apple6 76ｦ0030006fl 030003090209apple076 56ｦ000090ｸ9 (01ｨｨ-2) 02 00appleapple6ｦ00003000700 030003090209apple076 56ｦ0000900 6ｦ0020200020006, 01070307apple0ｸ800 0000 070208000ｸ8 030003090209apple076 56ｦ0030006fl (01ｨｨ-2) 046ｦ0apple040400000900 096ｦ00ｸ709030ｸ8 030003090209apple07-6 56ｦ000000ｸ803 (00000ｹ1010608apple00060609apple0400030ｸ803) 6ｦ0020200020006 0703 00030003090209apple076 56ｦ00009fl 08apple09 apple0008apple076 7apple6ｦ0030309apple076 56ｦ0000909 6 700-0007036ｦ0 (01ｨｨ-3) 050307036ｦ00603090ｹ00006010900 0ｹ108090304036ｦ00ｷ30909 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003 (01ｨｨ-4) 02 00appleapple6ｦ00003000700 6 7090807030003090209apple076 56ｦ0000900 02 00appleapple6ｦ00003000700 6 7090800apple030003090209apple076 56ｦ0000900 036ｦ00300apple09000601076 707 6ｦ002020002fl 07030ｷ3076 50601076 707 6ｦ002020002fl 036ｦ00300apple09000601076 707 6ｦ002020002fl 07030ｷ3076 50601076 707 6ｦ002020002fl 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, 050503) ｨC ｨC IGF2/H19 (050503) 09ｨ -05ｨｨ05 (0307096ｦ0090ｹ0-000ｸ800 6 56ｦ0apple096ｦ000030ｸ8 05ｨｴ); ｰ060900 apple0703 036ｦ00300apple0900-0601076 707 6 7090807030003090209apple07-6 56ｦ00009fl ｱ (0307096ｦ0090ｹ0000ｸ800 6 56ｦ0apple096ｦ000030ｸ8 ｨｪ040505) LIT1 (016ｦ0apple0ｷ3090007036ｦ0 08090ｸ7006 507 6ｦ0, apple6ｦ001 08000ｹ0000009); PEG3 (0307apple090700016ｦ0apple- 0ｷ3090007036ｦ0) ｨｮ6ｦ00603090ｹ0000700 6 709-0807030003090209apple076 56ｦ0-000900 IGF2/H19 (05ｨｺ05) P73 (016ｦ0apple0ｷ3090007036ｦ0 08070ｹ00001, apple6ｦ001 02006 7-01076 707) 09ｨ -05ｨｨ05 (05ｨｨ05); PEG1/MEST (05ｨｺ05) ｨC ｨC IGF2/H19 (0409apple07-010906 0608000103apple 0708040307-020006 ｨC 0603. 0300010603); P73 (070603apple6ｦ0fl 020006-01000309fl, 0209030207036ｦ0 0300apple010903036ｦ0); GTL2 (016ｦ0apple0ｷ3090007036ｦ0 08070ｹ00001) 09ｨ -05ｨｨ05 (0307096ｦ0-090ｹ0000ｸ800 6 56ｦ0apple096ｦ000030ｸ8 05ｨｨ05); PEG3 (apple6ｦ001 0400060109 036ｦ0030109 09 0ｹ100 07030003apple09fl); ZAC (apple6ｦ001 fl090ｹ00009-01076 5) ｨｨapple0903000ｹ06ｦ0000900. ｨｨapple070ｹ000apple01 0709006ｦ00ｹ06ｦ00003, 0ｹ00307 6ｦ00000076 707 0309086ｦ0 0304036ｦ00ｷ30909 0000 06040ｸ70006036 5040003. 01ｨｨ ｨC 01apple0903090ｹ00006010900 0800apple0907 0ｸ8 6 5 060707036 5000306036 50909 06 apple0906. 1. 02 apple006 5096ｦ00304apple6ｦ0 060900 apple0703076 5 apple6ｦ006040902apple076 50ｸ86 56ｦ0000306fl 6 5 030001060300. 09ｨ 030003090209apple076 56ｦ000 006ｦ0 07 000703 0909 6 50403 apple07 090300020006010903 6ｦ0020200020006. 05 0207apple0309apple076 56ｦ0000900 08070207-0608000ｷ30902090ｹ000076 707 030003090209apple076 56ｦ00009fl 6 5076 502000ｹ000000ｸ8 0807060200 076 56ｦ0030002000007060309 050401, 0701apple04086ｦ00ｸ90ｸ70900 09ｨ, 09 00006 70906030700076 50ｸ800 00020109. ｨｨ00apple6 5090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 006ｦ0 04apple076 50000 01026ｦ0060300apple6ｦ0 0903-08apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 096ｦ003apple6ｦ06 7096 56ｦ00ｸ903 09ｨ, 01070307apple0ｸ806 6 5 0ｹ1030903 0602040ｹ06ｦ0fl03 0807 6 500apple6 76ｦ0000306fl 0209 07 6 7090807-, 0209 07 6 7090800apple030003090209apple076 56ｦ000090ｸ9. 05 6 70000070300 0ｹ00002076 500016ｦ0 09096 5000603-000ｸ8 6 56ｦ0 01apple0408000ｸ803 01026ｦ0060300apple6ｦ0 090308apple09000309apple076 56ｦ000000ｸ803 6 700-00076 5 ｨC 0ｹ10307 08apple090ｷ3000003apple070300apple006ｦ0fl 07 026ｦ0060300 02090000076 707 0802000ｹ06ｦ0 03apple0703070607030ｸ8 15 (15q11-q13) 09 030002070300apple000ｸ806 apple006 7090700 0107apple070301076 707 0802000ｹ06ｦ0 03apple0703070607030ｸ8 11 (11p15.5). 01026ｦ0060300apple 006ｦ0 03apple07030706070300 15 0607 00apple080903 0000 0300000000 14 090308apple09000309apple076 56ｦ000000ｸ803 0807060200 076 56ｦ003000200000706030006 [http://igc.otago.ac.nz/home.html] *. ｨｮ6ｦ0060300 0909 000903 03apple6ｦ0000601apple09 09apple04000306fl 030702000107 06 07030ｷ3076 506010706 03apple0703070607030ｸ8 (MKRN3, MAGEL2, NDN, SNURF-SNRPN, HBII-436, HBII-13, HBII-437, HBII-438A, PWCR1, HBII-52, HBII-438A, UBE3A-AS). 0302090800 01 030002070300apple00 apple6ｦ0060807-026ｦ06 76ｦ00ｸ90306fl 6 56ｦ0 apple046 70903 6 700006ｦ0 (UBE3A 09 ATP10A), 0ｹ10106-08apple00060609apple040ｸ90ｸ7090306fl 6 5 000001070307apple0ｸ803 03016ｦ000fl03 08apple00 08070ｹ00309-030002000007 06 036ｦ00300apple090006010706 03apple0703070607030ｸ8 [21]. 0204036ｦ00ｷ30909 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 15q11-q13 fl6 502fl0ｸ90306fl 0ｹ103090702076 7090ｹ00006010706 070600076 50706 060900 apple0703076 5 ｨｨapple6ｦ0 00apple6ｦ0ｨC * 016ｦ0036ｦ002076 7 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 09 apple07 090300020006010903 0ｹ10202000103076 5 04 0ｹ00002076 500016ｦ0 09 08096 50703000ｸ803. 0509020209 (05ｨｨ05, MIM 176270) 09 ｨｴ006 7000200036ｦ0006ｦ0 (05ｨｴ, MIM 105830) **. 05 07020004090006036 500 0602040ｹ06ｦ0006 5 0ｹ10309 096ｦ0 07-02006 56ｦ00009fl 6 50ｸ8090ｸ86 56ｦ00ｸ90306fl 030901apple07 0002000ｷ309fl0309 01026ｦ0060300apple6ｦ0 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 006ｦ0 07030ｷ3076 506010703 090209 036ｦ00300apple090006010703 6 707030702076 700, 0209 07 07 0007apple07 090300020006010903 006ｦ0-060200 076 56ｦ000090003 03apple0703070607030ｸ8 15 0703 036ｦ00300apple09 090209 07030ｷ36ｦ0. ｨｦ 006ｦ00107 6 5 apple00 010903 0602040ｹ06ｦ0fl03 08apple090ｹ009006ｦ00309 apple6ｦ0096 5090309fl 060900 apple0703076 5 06036ｦ000076 5fl0306fl 0304036ｦ00ｷ30909 (6 5 030703 0ｹ009060200 09 0ｹ10809-0304036ｦ00ｷ30909) 6 5 0ｷ3000003apple6ｦ003 090308apple09000309006 76ｦ0. 09ｨ apple006 70907006ｦ0 15q11-q13 (SNURF-SNRPN) 006ｦ00307-090306fl 6 5 08apple0703070307apple000706 07 026ｦ0060309 6 700006ｦ0 SNRPN 09 0607-00apple080903 6 56ｦ0 apple006 70402fl0307apple000ｸ803 0ｹ10200030000036ｦ0 ｨC 09ｨ -05ｨｨ05 apple6ｦ0090300apple0703 4.3 030800 09, apple6ｦ00608070207080000000ｸ806 0ｷ3000003apple070300apple- 000000 006ｦ0 35 030800, 09ｨ -05ｨｴ apple6ｦ0090300apple0703 0.9 030800 [22]. ｨ 03 020400010ｷ309fl 096ｦ001020ｸ90ｹ06ｦ0000306fl 6 5 0800apple0001020ｸ90ｹ000000909 6 5 0307 00 6 76ｦ0-030003076 7000000096ｦ0 0800000601076 707 0ｹ108096 70000070309086ｦ0 006ｦ0 03040806010706 09 006ｦ007 07apple0703, 6 5 096ｦ06 50906090307060309 0703 0807026ｦ0 0900 096 509 6ｦ0, 6ｦ0 036ｦ001-0800 6 5 0807 00apple086ｦ0000909 6ｦ00103096 500076 707 090209 00006ｦ00103096 500076 707 0607-060307fl0009fl 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 006ｦ0 08apple0703fl0800000909 6 506006 707 070003076 7000000096ｦ0. ｨｨ07016ｦ0096ｦ00007, 0ｹ00307 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003 09ｨ -05ｨｨ05 09 09ｨ -05ｨｴ 07 026ｦ0 6ｦ00ｸ903 09020200apple0000- ** http://www.ncbi.nlm.nih/gov/sites/entrez?db=omim&tool=toolbar- OMIMｨCOnline Mendelian Inheritance in Man ｨC ｨ 000300apple000003-6 500apple0609fl 016ｦ0036ｦ002076 76ｦ0 006ｦ0060200 06036 50000000ｸ803 07020009000006 0ｹ00002076 500016ｦ0 0807 apple00 6ｦ0010ｷ3090006 0509010307apple6ｦ0 026ｦ00101000ｸ90609016ｦ0. 090902apple0ｸ8 6 5 060107 016ｦ003 08apple09 04016ｦ0096ｦ0000909 060900 apple0703076 5 060707036 5000306036 5040ｸ903 00070300apple04 096ｦ0 0702006 56ｦ00009fl 6 5 016ｦ0036ｦ002076 700.
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050204040107 070004ｨｦ05 05 070004ｨｦ0200 ｨｮ0000ｨｦ05000102 1361 ｨｴ08096 70000070309080ｸ8 apple07 090300020006 (ｨｺ1, ｨｺ2) 050309apple6ｦ0000900 apple07 090300020006010903 0ｹ108096 7000007030908076 5 ｨ 6ｦ008090600 090308apple09000309006 76ｦ0 6 5 6 76ｦ00300036ｦ003 apple07 090300020006 ｨｴ08096 70000070309080ｸ8 080703070306036 56ｦ0 (F1) 0407apple036ｦ0 ｨｦ 0007apple07 090300020006010906 080702000ｸ806 0804090ｸ8apple000ｸ806 096ｦ0000706 0309apple07 090300020006010906 080702000ｸ806 0804090ｸ8apple000ｸ806 096ｦ0000706 09ｨ -05ｨｴ 000007 0307 0903 02fl 096ｦ008090609 6 70000070300076 707 0903-08apple09000309006 76ｦ0 6 5 apple006 709070000 15q11-q13 6 5 08000006010706 08070207-6 50706 0209000909. 006 707 0002000ｷ30909 08apple096 507 fl03 01 09060ｹ0000900076 50000090ｸ9 0ｹ108096 700000003090ｹ00006010706 036ｦ0apple0109apple076 50109 036ｦ00300apple090006010706 03apple070307-0607030ｸ8 15. 05000309, 04006ｦ0060200 076 56ｦ06 5040900 036ｦ001040ｸ9 03apple07030706070304, 07 006ｦ0apple0408096 56ｦ00ｸ903 08apple0909006ｦ00109 05ｨｴ. 056ｦ000000700 000006apple07 006 7000000apple6ｦ003096 5000700 096ｦ0 0702006 56ｦ0000900 036ｦ0apple6ｦ0010300apple090904000306fl 6 70204 07010706 060300080000000ｸ9 040306036 50000000706 070306036ｦ00207060309, 070306040306036 5090003 apple000ｹ009, 060300apple0007030908000ｸ80309 0703apple0ｸ86 50906030ｸ80309 010401070200000ｸ80309 6 509-08000009fl0309, 0ｹ06ｦ006030ｸ80309 000007 070600076 56ｦ000000ｸ80309 08apple09060304086ｦ00309 060300036ｦ0. ｨｨ07080402fl0ｷ3090700006ｦ0fl 0ｹ06ｦ0060307036ｦ0 060900 apple07036ｦ0 060706036ｦ06 502flｨｺ0906. 2. 090903076 700000003090ｹ00006010900 09 0ｹ108096 700000003090ｹ00006010900 0300036ｦ0000909030ｸ8 0207apple0309apple076 56ｦ00009fl 08070200076 707 0804090ｸ8apple00076 707 096ｦ00007066ｦ0. ｨC 090308apple09000309apple076 56ｦ000000ｸ806 6 70000, 0ｹ1010608apple00060609apple040ｸ90ｸ7090606fl 06 07030ｷ3076 506010706 03apple0703070607030ｸ8; ｨC 090308apple09000309apple076 56ｦ000000ｸ806 6 70000, 0ｹ1010608apple00060609apple040ｸ90ｸ7090606fl 06 036ｦ00300apple090006010706 03apple0703070607030ｸ8; ｨC 0ｹ108090304036ｦ00ｷ309fl (070306040306036 50900 030003090209apple076 56ｦ00009fl 036ｦ00300apple090006010903 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 07076 70000000900). ｨｮ00apple000ｸ803 0ｷ36 500030703 07 0709006ｦ00ｹ0000007 020400010ｷ30907006ｦ002000007 00006ｦ00103096 5000700 0607060307fl000900 6 700006ｦ0. 0ｷ3096ｦ00200000706 6ｦ00103096 500070603000ｸ9 006ｦ0 apple6ｦ009000ｸ803 apple07 090300020006010903 01070809fl03 03apple0703070607030ｸ8 15 [23]. ｨｪ6ｦ001, 006ｦ0 07030ｷ3076 506010706 03apple07-030706070300 6ｦ00103096 5000ｸ803 fl6 502fl000306fl 09ｨ -05ｨｨ05. 046ｦ0 036ｦ00300apple090006010706 03apple07030706070300, 006ｦ008apple0703096 5, 09ｨ -05ｨｨ05 fl6 502fl000306fl 6 7090800apple030003090209apple076 56ｦ000000ｸ803, 03076 7 6ｦ0 016ｦ001 6 5 09ｨ -05ｨｴ 0903000003 0300060307 6ｦ00ｷ30003090209apple076 56ｦ0000900 6 70906030700076 5 H4 09 H3, 0ｹ00307 6 50ｸ8-090ｸ86 56ｦ00003 00010703086ｦ0010309096ｦ00ｷ3090ｸ9 03apple07036ｦ00309006ｦ0 09 07 000608000ｹ009-6 56ｦ00003 0ｹ1010608apple000606090ｸ9 6ｦ00000076 707 02070104066ｦ0. 01apple070300 03076 707, 0807-016ｦ0096ｦ00007, 0ｹ00307 6ｦ00103096 5000ｸ806 09ｨ -05ｨｴ 040ｹ06ｦ006036 5040003 6 5 07 000608000ｹ000000909 030003090209apple076 56ｦ00009fl 09 060408apple0006060909 09ｨ -05ｨｨ05 006ｦ0 036ｦ00300apple090006010703 6 707030702076 700. 5
131362 0000 00 006 5, 056ｦ0080000076 56ｦ0 0003 1 : 15000 00076 507apple0708 0000000ｸ803 [24]. ｨ 6ｦ0 0702006 56ｦ0000900 07 04-0602076 502000007 070306040306036 5090003 08apple07 0401036ｦ0 090308apple09000309apple076 56ｦ0000007-6 707 6 700006ｦ0 UBE3A, 0ｹ1010608apple00060609apple040ｸ90ｸ7006 70706fl 090601020ｸ90ｹ00903000200-0007 06 036ｦ00300apple090006010706 03apple0703070607030ｸ8 6 5 000001070307apple0ｸ803 0703 00026ｦ003 6 70702076 500076 707 0307096 76ｦ0 (6 5 6 709080807016ｦ0030800 09 01020003016ｦ003 ｨｨ04apple0109-000000). 05 070302090ｹ00900 0703 07020004090006036 56ｦ0 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 030700076ｦ00202000200006ｦ0fl 0ｹ1010608apple00060609fl UBE3A 0000 066 5fl096ｦ0006ｦ0 06 09020200apple00000ｷ3096ｦ00200000ｸ803 030003090209apple076 56ｦ000090003 006 707 08apple070307-0307apple6ｦ0. ｨ 03000ｸ90306fl 0ｹ101060800apple09030000036ｦ00200000ｸ800 07016ｦ0096ｦ00300020006036 56ｦ0 03076 707, 0ｹ00307 07030ｷ3076 506010906 6ｦ00202000200 6ｦ00000076 707 6 700006ｦ0 09006ｦ00103096 509apple04000306fl 6ｦ000030906030ｸ80602076 50706 ｨｺ0401, 03apple6ｦ0000601apple09 09apple0400030706 06 0209090200086ｦ00ｸ7006 707 02070104066ｦ0 SNURF-SNRPN ｨC 09ｨ -05ｨｨ05 [25]. 05 0007apple0300 09ｨ -05ｨｨ05 030003090209apple076 56ｦ000 006ｦ0 036ｦ00300apple0900-06010706 03apple07030706070300 09 0ｹ1010608apple00060609apple04000306fl 030702000107 06 07030ｷ3076 5-0601076 707 6 707030702076 76ｦ0. ｨｬ 086ｦ00ｷ309000003076 5 06 05ｨｴ, 0903000ｸ90ｸ70903 0304036ｦ0-0ｷ30909 0ｷ3000003apple6ｦ0 090308apple09000309006 76ｦ0 (08apple090300apple0007 3% 0602040ｹ06ｦ0006 5 096ｦ0-0702006 56ｦ00009fl), 036ｦ00300apple090006010906 6ｦ00202000200 09ｨ -05ｨｨ05 006ｦ00307 090306fl 6 5 6 7090807030003090209apple076 56ｦ000000703 0607060307fl000909 09 0ｹ10106-08apple00060609apple04000306fl, 08apple096 507 fl 030003 066ｦ0030ｸ803 01 09006ｦ00103096 56ｦ00ｷ30909 03apple6ｦ0000601apple09080ｷ30909 UBE3A 006ｦ0 036ｦ00300apple090006010706 03apple07030706070300. 05apple00 09 086ｦ00ｷ309000003076 5 06 0304036ｦ00ｷ309fl0309 09ｨ 08apple09 060900 apple070300 ｨｴ00-6 7000200036ｦ0006ｦ0 030702000107 10% 0903000ｸ903 0002000ｷ30909 09ｨ -05ｨｴ, 03076 7 6ｦ0 016ｦ001 04 90% 070200000ｸ803 apple6ｦ0096 509030900 096ｦ0 0702006 56ｦ00009fl 07 040602076 5-02000007 0800apple6 5090ｹ0000ｸ80309 0ｹ108090304036ｦ00ｷ309fl0309 09ｨ -05ｨｨ05 (08. 2.1.2.1 09 3.1) [5]. 09ｨ -05ｨｨ05 000007 0307 0903 02fl 0207apple0309apple076 56ｦ00009fl 09 0807-00apple086ｦ00009fl 07030ｷ3076 50601076 707 090308apple09000309006 76ｦ0 006ｦ0 03apple07030706070300 15 [26]. 050002000ｷ30909 09ｨ -05ｨｨ05 6 500 0403 01 0406036ｦ000076 5020000090ｸ9 036ｦ00300apple09000601076 707 0ｹ108096 70000070309086ｦ0 03apple0703070607030ｸ8 15, 0ｹ00307 08apple07fl6 502fl- 000306fl 6 5 0207apple0300 05ｨｨ05. 056ｦ000000ｸ806 060900 apple0703 6 50603apple000ｹ06ｦ0000306fl, 0807 apple6ｦ009000ｸ803 070ｷ30000016ｦ003, 06 0ｹ06ｦ0060307030706 1 : 10000ｨC1 : 25000 00076 507apple0708 0000000ｸ803 09 036ｦ0apple6ｦ0010300apple090904000306fl 000007006ｦ0036ｦ00200000706 030ｸ804000ｹ0000706 6 7090807030700090006, 6 70908076 707006ｦ0 0909030703, 000909010903 apple0706030703, 040300apple0000000706 060300080000000ｸ9 040306036 50000000706 070306036ｦ00207-060309, 6 7090800apple026ｦ06 7090006 09 070809apple0000090003. ｨｴ0307 06030008000ｸ806 6 70000-000ｸ806 060900 apple0703, 066 5fl096ｦ000000ｸ806 06 08070300apple0006 020400010ｷ30909 0ｷ30002076 707 applefl 6ｦ0 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 03apple0703070607030ｸ8 15, 0ｹ10106-08apple00060609apple040ｸ90ｸ7090306fl 090601020ｸ90ｹ009030002000007 06 07030ｷ3076 50601076 707 6 707-030702076 76ｦ0. ｨｬ 086ｦ00ｷ309000003076 5 06 0304036ｦ00ｷ309fl0309 09ｨ, 01070307apple0ｸ800 0607-06036ｦ06 502fl0ｸ903 0701070207 1% 0602040ｹ06ｦ0006 5 096ｦ0 0702006 56ｦ00009fl, 07030ｷ3076 506010900 6ｦ00202000209 6 5060003 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 apple006 70907006ｦ0 15q11-q13 006ｦ00307 fl0306fl 6 5 09006ｦ00103096 509apple076 56ｦ000000703 0607060307fl- 000909. ｨｪ6ｦ0010800 016ｦ001 09 08apple09 05ｨｴ, 0701070207 10% 036ｦ0010903 086ｦ00ｷ3090000-03076 5 0903000ｸ903 0002000ｷ30909 09ｨ -05ｨｨ05, 03076 7 6ｦ0 016ｦ001 04 90% 6 50ｸ8fl6 5-02fl0ｸ90306fl 0800apple6 5090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 (08. 2.1.2.2 09 3.4) [5]. 0502fl 086ｦ00ｷ309000003076 5 06 0ｹ108090304036ｦ00ｷ309fl0309 09ｨ 0ｹ06ｦ0060307 0ｸ86 56ｦ00ｸ903 036ｦ0apple6ｦ0010300apple000ｸ8 0307096ｦ0090ｹ0000ｸ800 006ｦ0apple0404000009fl 030003090209apple076 56ｦ00009fl, 6 507090009016ｦ00ｸ90ｸ70900 de novo 006ｦ0 0807060309096 70703090ｹ00006010903 0ｹ1036ｦ0086ｦ003 apple6ｦ0096 5090309fl, 0209 07 fl6 502fl0ｸ90ｸ7090006fl 060200 06036 5090003 0107appleapple00010ｷ30909 6 76ｦ0030003090ｹ00006010706 0ｹ108090304036ｦ00ｷ30909 6 5 0ｹ06ｦ0060309 0607036ｦ003090ｹ00006010903 010200030701. 0207096ｦ0090ｷ3090903 0807 0ｹ108090304036ｦ00ｷ309fl03 070809066ｦ000 016ｦ001 08apple09 05ｨｨ05 [27], 036ｦ001 09 08apple09 05ｨｴ [28], 0007 06apple00 09 070200000ｸ803 06 05ｨｴ 0700 fl6 502fl000306fl 07020000 apple6ｦ00608apple070603apple6ｦ0000000000ｸ803 fl6 502000009-0003. ｨｨ07016ｦ0096ｦ00007, 0ｹ00307 0701070207 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50708 6ｦ0030006fl ｰ0000030908090ｹ0000ｸ803 05ｨｴ ｱ, 036ｦ0apple6ｦ0010300apple0909040ｸ9-0ｸ7090306fl 070809apple0000090003, 030ｸ804000ｹ0000706 6 7090807030700090006 09 060807-0607 00070603000ｸ9 01 apple000ｹ009, 03.00. 03000309 01020900090ｹ0000601090309 08apple0909006ｦ0016ｦ00309, 01070307apple0ｸ800 6 5 070200040006 06030008000009 060708apple07-6 50708 6ｦ00ｸ903 01020900090ｹ0000601040ｸ9 016ｦ0apple03090004 05ｨｨ05 [29]. 05apple046 70706 01apple0408000ｸ806 01026ｦ0060300apple 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 6 70000070300 0ｹ00002076 500016ｦ0 apple6ｦ00608070207080000 6 5 06006 70300000300 11p15.5 09 0607 00apple080903, 0807 03000000040006 0300apple00, 11 0ｹ16 507020ｸ90ｷ309-07000007 0107000600apple6 56ｦ003096 5000ｸ803 0807 06036ｦ003040604 090308apple09000309006 76ｦ0 0207-010406076 5 016ｦ001 06 036ｦ00300apple090006010706 (H19, KCNQ1, KCNQ1DN, CDKN1C, SLC22A18, PHLDA2, OSBPL5), 036ｦ001 09 06 0703-0ｷ3076 506010706 0ｹ1010608apple000606090006 (IGF2, IGF2-AS, KCNQ1OT1, INS) 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090308apple09000309apple076 56ｦ000000ｸ800 6 700000ｸ8, 0ｹ1010608apple00060609apple040ｸ90ｸ7090006fl 030702000107 06 036ｦ00300apple09000601076 707 (KCNQ1, CDKN1C, SLC22A18, PHLDA2) 090209 06 07030ｷ3076 50601076 707 (KCNQ1OT1) 6 707030702076 76ｦ0, 09 08apple096 507 09026ｦ0 01 046 50002090ｹ000-00090ｸ9 07090ｸ8 CDKN1C. ｨ 00 000106 030003090209apple076 56ｦ00009fl 09ｨ 2 006ｦ0 036ｦ00300apple090006010703 6 707030702076 700 04 086ｦ00ｷ3090000036ｦ0 0ｸ802 08076 50ｸ8-040000, 03076 7 6ｦ0 016ｦ001 090903000000000906 06036ｦ00304066ｦ0 030003090209apple076 56ｦ00009fl 09ｨ 1 0000 006ｦ0 020ｸ9 6ｦ002070600. ｨｪ6ｦ0010903 07 apple6ｦ0090703, 060900 apple07030ｸ8 ｨｺ6ｦ0060600026ｦ0-050902006 500apple6ｦ0 09 0509 00036ｦ0006ｦ0ｨC0300016 509036ｦ0 000606036 509-030002000007 03076 70403 apple6ｦ00606036ｦ003apple096 56ｦ0030006fl 6 5 016ｦ00ｹ00006036 500 0307 000209 006ｦ0060200 06036 50000000ｸ803 096ｦ0 0702006 56ｦ0000906, 07 040602076 5020000000ｸ803 apple00-0ｷ30908apple0701000ｸ80309 0807 apple07 09030002000601070304 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6ｦ0020200020006 Peg1/Mest 04 030ｸ8040006 08apple096 507 0903 01 096ｦ00300 0200-00090ｸ9 08026ｦ00ｷ30000036ｦ0apple00076 707 09 0ｹ103 apple0907006ｦ0020000076 707 apple6ｦ0096 5090309fl, 096ｦ0-00apple080100 08070603006ｦ0036ｦ0020000076 707 apple0706036ｦ0 09 060009080000090ｸ9 08090900000608070607 0007060309 080703070306036 56ｦ0 [50]. 040006030703applefl 006ｦ0 0307 0ｹ00307 PEG1/MEST apple6ｦ00606036ｦ003apple096 56ｦ0000306fl 6 5 016ｦ00ｹ00006036 500 016ｦ000 09-6ｦ00300076 707 6 700006ｦ0 02fl 05ｨｺ05, 03070ｹ001076 50ｸ800 0304036ｦ00ｷ30909 6 5 000003 04 086ｦ0-0ｷ309000003076 5 06 6ｦ000000ｸ803 060900 apple07030703 0807016ｦ0 0000 09 0000030902090ｷ309apple07-6 56ｦ0000ｸ8 [51]. 0400 090601020ｸ90ｹ0000007, 0ｹ00307 6 5 applefl 00 0602040ｹ06ｦ0006 5 0ｹ108090304-036ｦ00ｷ30909 PEG1/MEST 090209 apple046 70903 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 (6 5 0ｹ06ｦ006030007060309, GRB10) 03076 70403 fl6 502fl030006fl 0ｹ103090702076 7090ｹ00006010706 070600076 50706 0ｹ103076 707 6 700000003090ｹ000060109 6 7000300apple076 7000000076 707 096ｦ0-0702006 56ｦ00009fl [49]. ｨｪ6ｦ001 0800 016ｦ001 09 6 5 0602040ｹ06ｦ000 06 0ｹ108096 700000003090ｹ0000601090309 6ｦ0 00appleapple6ｦ00ｷ309fl0309 0ｷ3000003apple076 5 090308apple09000309006 76ｦ0, 0800apple6 5090ｹ0000ｸ800 0ｹ108090304-036ｦ00ｷ30909 6 5 0703 000200000ｸ803 090308apple09000309apple076 56ｦ000000ｸ803 6 700006ｦ003 0ｸ80209 6 50ｸ8fl6 50200000ｸ8 08apple09 apple6ｦ00902090ｹ0000ｸ803 0207apple036ｦ003 apple6ｦ0016ｦ0. 07090800apple03000309-0209apple076 56ｦ0000900 090308apple09000309apple076 56ｦ000000ｸ803 07080403070200060408apple00060607apple- 000ｸ803 6 70000076 5 090209 6ｦ00103096 56ｦ00ｷ309fl 090308apple09000309apple076 56ｦ000000ｸ803 08apple07-0307070001076 70000076 5 0804030003 6 7090807030003090209apple076 56ｦ00009fl 08apple096 507 fl03 01 08070200070304 070306040306036 5090ｸ9 08apple07 040103076 5 6 700006ｦ0 6 5 0800apple6 50703 0602040ｹ06ｦ000 09 01 096ｦ00202000200000706 0ｹ1010608apple0006060909 6 507 6 50307apple0703. ｨｪ6ｦ001, 6 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016ｦ001 07080403070200060408apple00060607apple6ｦ0 090209 08apple070307070001076 700006ｦ0 [38]. 05apple046 70706 07080403070200060408apple00060607apple000ｸ806 6 70000 CDKN1C, 0ｹ10106-08apple00060609apple040ｸ90ｸ7090606fl 6 5 0007apple0300 06 036ｦ00300apple090006010706 03apple0703070607-030ｸ8, 0ｹ06ｦ0060307 07 006ｦ0apple0408096 56ｦ00003 6 700000003090ｹ00006010900 0304036ｦ00ｷ30909 08apple09 apple6ｦ00902090ｹ0000ｸ803 0207apple036ｦ003 apple6ｦ0016ｦ0. 046ｦ008apple090300apple, 08070300applefl 036ｦ00300apple09000601076 707 6ｦ002020002fl 006ｦ0 020ｸ9 6ｦ0000306fl 6 5 85% 0602040ｹ06ｦ0006 5 apple6ｦ0016ｦ0 02006 701076 707, 060708apple076 50708 6ｦ000030ｸ803 0002000ｷ3090006 apple006 70907006ｦ0 11p15 [57]. ｨ 000300apple00060007, 0ｹ00307 08apple09 070804030702fl03 0509020003066ｦ0 06 000200-0ｷ3090006 036ｦ00300apple09000601076 707 6ｦ002020002fl CDKN1C 006ｦ00ｹ009006ｦ00003 0ｹ10106-08apple00060609apple076 56ｦ0030006fl 07030ｷ3076 506010906 6ｦ00202000200 6ｦ00000076 707 6 700006ｦ0 [58], 0ｹ00307 036ｦ001 0800, 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6 700006ｦ0, 07 040602076 5020000006ｦ0fl 6 7090807030003090209apple076 56ｦ000090003 036ｦ00300apple09000601076 707 6ｦ002020002fl (08. 3.1) [59]. ｨ 000300apple0006000ｸ80309 6 5 070300070400000909 apple0906016ｦ0 apple6ｦ0096 5090309fl apple6ｦ0016ｦ0 fl6 502fl0ｸ90306fl 6 700000ｸ8, 06036ｦ0030406 090308apple09000309006 76ｦ0 01070307apple0ｸ803 09090300-00090206fl 6 5 0307 00 0ｹ16 507020ｸ90ｷ30909 03020001070809036ｦ00ｸ90ｸ70903. ｨｦ 0900 0909 08apple090300apple076 5 ｨC 0207010406 M6P/IGF2R. ｨｨapple07 0401030703 6 700006ｦ0 fl6 5-02fl000306fl apple000ｷ300080307apple, 01070307apple0ｸ806 066 5fl090ｸ86 56ｦ00003 016ｦ001 036ｦ00000070907ｨC 6-020706026ｦ0036 70209010708apple0703000900, 036ｦ001 09 IGF2, 07 000608000ｹ0096 56ｦ0fl 0903 03apple6ｦ000060807apple03 6 5 020909070607030ｸ8 02fl 006 7apple6ｦ0 6ｦ00ｷ30909. 056ｦ000000ｸ806 6 70000 090308apple09000309apple076 56ｦ000 04 030ｸ80409 09 01apple0ｸ8060ｸ8, 0007 07 026ｦ0 6ｦ00003 08070209-0307apple02000ｸ803 090308apple09000309006 70703 04 0ｹ00002076 500016ｦ0 ｨC 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131366 0000 00 006 5, 056ｦ0080000076 56ｦ0 0900 096 509 076 5 0903000ｸ903 096ｦ00202000200000ｸ806 036ｦ0apple6ｦ0010300apple 0ｹ1010608apple0006-060909 M6P/IGF2R. 050ｸ806016ｦ0090ｸ86 56ｦ0000306fl 08apple00 080702070800000900, 0ｹ00307 6 5 0602040ｹ06ｦ000 030700076ｦ00202000200000706 0ｹ1010608apple0006060909 0ｹ103076 707 07080403070200060408apple00060607apple00076 707 6 700006ｦ0 0307080003 08076 50ｸ8046ｦ0030006fl apple090601 apple6ｦ0096 5090309fl apple6ｦ0016ｦ0 [38]. 05000606036 509030002000007, 6 5 07 000703 0909 0906-060200 076 56ｦ0000906 0ｸ802 0406036ｦ000076 5020000 090308apple09000309apple076 56ｦ000000ｸ806 06036ｦ0030406 M6P/IGF2R 04 50% 086ｦ00ｷ309000003076 5 06 070804030702000ｸ9 0509020003066ｦ0 [60]. ｨｨｨｺｨ ｨｮｨ 0401 05ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ ｨｨ00ｨｺ05ｨ ｨｮ040107 ｨｴｨｨｨ 02ｨｬｨｪ0209ｨ 09 ｨｨapple090009036ｦ0fl 6 507 6 50009036ｦ0000900, 0ｹ00307 6 50307apple090ｹ0000ｸ800 0ｹ108090304036ｦ0-0ｷ30909 ｨC 0ｹ10307 apple0009040200036ｦ003 0304036ｦ00ｷ30906 6 5 0807060200 076 56ｦ0030002000007060309 0207010406076 5, 01070003apple070209apple040ｸ90ｸ70903 0603apple04010304apple04 03apple07036ｦ00309006ｦ0, 0706036ｦ0000306fl 0000fl06000ｸ803, 0ｹ00307 6 50ｸ8090ｸ86 56ｦ00003 0207apple0309apple076 56ｦ0000900 0800apple6 5090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906. ｨｨ07 6 5060006 6 509 090307060309, 070009 fl6 5-02fl0ｸ90306fl apple0009040200036ｦ0030703 060307036ｦ00603090ｹ00006010903 070409 0701 6 5 0406036ｦ0-00076 50200000909 090209 0807 00apple086ｦ0000909 0ｹ108096 700000003090ｹ0000601076 707 06036ｦ0-0304066ｦ0 6 700006ｦ0. 05 0007apple0300 06080700036ｦ000006ｦ0fl 0ｹ06ｦ0060307036ｦ0 0ｹ108090304036ｦ00ｷ30906 0307080003 0ｸ80300 0307 0902090ｷ309apple076 56ｦ0006ｦ0 6 700000003090ｹ0000601090309 09 06apple00-076 50ｸ80309 026ｦ0010307apple6ｦ00309. 016ｦ001 040800 070303000ｹ06ｦ002070600 6 50ｸ80400, 0ｹ06ｦ0060307036ｦ0 0ｹ108090304036ｦ00ｷ30906 0307080003 0ｸ80300 apple6ｦ00902090ｹ0000706 6 5 apple6ｦ009000ｸ803 0ｷ3000003apple6ｦ003 090308apple0900-0309006 76ｦ0. ｨｴ0307 006ｦ06 507 0903 006ｦ0 030ｸ8060200, 0ｹ00307 6 5 6 70000070300 0ｹ00002076 500016ｦ0 06040ｸ70006036 5040ｸ903 0807060200 076 56ｦ0030002000007060309, 07020000 6 5070608apple0909030ｹ0096 50ｸ800 01 6 5070900090100076 50000090ｸ9 0ｹ108090304036ｦ00ｷ30906, 0ｹ00003 apple046 70900. 0400 6ｦ06 50007 0ｸ80209 080702040ｹ000000ｸ8 07016ｦ0096ｦ00300020006036 56ｦ0 06040ｸ70006036 507-6 56ｦ00009fl 6 700000003090ｹ00006010706 08apple00 apple6ｦ006080702070800000007060309 01 0207apple- 0309apple076 56ｦ000090ｸ9 0800apple6 5090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906 6 5 06006 70300000300 11p15 [61]. ｨｦ016ｦ0096ｦ002070600, 0ｹ00307 6 5 09020200apple00000ｷ3096ｦ002000007 0300-03090209apple076 56ｦ000000703 apple006 709070000 IGF2/H19 06040ｸ70006036 5040ｸ903 4 SNP (T123C, G358A, T382G 09 A402G), 01070307apple0ｸ800 6 50603apple000ｹ06ｦ0-0ｸ90306fl 6 5 03apple0003 0909 16 6 50709030708000ｸ803 6 76ｦ00802070309086ｦ003: TGTA, CATG 09 CAGA. 030ｸ80207 0807016ｦ0096ｦ00007 09006ｦ00ｹ009030700 046 50002090ｹ000-000900 0ｹ06ｦ0060307030ｸ8 6 76ｦ00802070309086ｦ0 CAGA 09 04030000000400000900 0ｹ06ｦ0060307-030ｸ8 6 76ｦ00802070309086ｦ0 CATG 04 086ｦ00ｷ309000003076 5 06 050503, 0807 06apple6ｦ06 50000-00090ｸ9 06 01070003apple07020003. 05 apple046 70703 0906060200 076 56ｦ0000909 0ｸ8026ｦ0 08apple07-0602000800006ｦ0 08apple00 08070ｹ0030903000200006ｦ0fl 0800apple00 6ｦ00ｹ06ｦ0 036ｦ00300apple09000601076 707 6 76ｦ00802070309086ｦ0 H-AS3 6 5 07 026ｦ0060309 09ｨ -05ｨｴ 6 5 06000300fl03 06 0003000309 06 05ｨｴ, 0903000ｸ90ｸ7090309 0ｹ108090304036ｦ00ｷ3090ｸ9 6 5 0ｷ3000003apple00 0903-08apple09000309006 76ｦ0 [62]. ｨｴ08096 700000003090ｹ00006010906 06036ｦ0030406 6 700006ｦ0 036ｦ0010800 0307080003 0ｸ80300 096ｦ003apple07000403 0909030000000009fl0309 0807060200 076 56ｦ0030002000007060309 02070104-06076 5, 01070307apple0ｸ800 030003 090209 09000ｸ803 0608070607 0703 6 5076 502000ｹ000000ｸ8 6 5 apple006 70402fl0ｷ3090ｸ9 0603apple04010304apple0ｸ8 03apple07036ｦ00309006ｦ0. ｨ 096 50006030007, 0ｹ00307 0807-02090307apple02000ｸ800 6 56ｦ0apple096ｦ000030ｸ8 6 700006ｦ0 5,10-03000309020000030003apple6ｦ06 709 - apple07026ｦ0026ｦ003apple00 0401036ｦ0090ｸ8 (MTHFR) 03076 70403 07016ｦ0090ｸ86 56ｦ00300 6 50209fl- 000900 006ｦ0 036ｦ0apple6ｦ0010300apple 030003090209apple076 56ｦ00009fl 050401, 080706010702000104 0909-030000fl0ｸ903 04apple076 5000000 S-6ｦ0 00000709090203000309070009006ｦ0, 01070307apple0ｸ806 fl6 502fl000306fl 070007apple0703 030003090200000ｸ803 6 7apple04080809apple076 50701 02fl apple006ｦ001-0ｷ30906 030003090209apple076 56ｦ00009fl [63]. 030ｸ80207 0807016ｦ0096ｦ00007, 0ｹ00307 006ｦ002090ｹ00900 6 707030709096 70703000706 096ｦ00300000ｸ8 677C > T 6 5 6 7000000 MTHFR 04 0800000ｸ709000ｸ8 046 50002090ｹ0096 56ｦ00003 apple090601 apple0708 000009fl apple00 0000016ｦ0 06 05ｨｴ 09 0ｹ108090304036ｦ00ｷ3090006 6 5 09ｨ [62]. ｨｴ030703 08apple090300apple 000307000603apple09apple04-0003 0706036ｦ003070ｹ00007 040602076 500040ｸ9 6 7apple6ｦ000090ｷ304 6 5 0708apple00 000200000909 0800apple- 6 5090ｹ0000ｸ803 09 6 50307apple090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906 09 060707036 5000306036 500000007 026ｦ0010307apple076 5, 0903 07 040602076 502096 56ｦ00ｸ90ｸ70903. 05000606036 509030002000007, 6 700-000003090ｹ00006010900 09 0ｹ108096 700000003090ｹ00006010900 0909030000000009fl 0300060007 6 5096ｦ0-090307066 5fl096ｦ0000ｸ8. 05 07 000706 060307apple07000ｸ8, 090300000007 0004010200070309-006ｦ0fl 0807060200 076 56ｦ0030002000007060300 6 700006ｦ0 0708apple00 0002fl0003 0207016ｦ0-0209096ｦ00ｷ3090ｸ9 08070300000ｷ3096ｦ00200000ｸ803 066ｦ00603076 5 030003090209apple076 56ｦ00009fl (CpG-070603apple076 501076 5) 09 0107 09apple040003 0200apple030000030ｸ8, 6 5076 502000ｹ00000-000ｸ800 6 5 07 000608000ｹ000000900 0ｹ108096 700000003090ｹ00006010903 0300036ｦ000090903076 5 apple00-6 70402fl0ｷ30909 6 70000000706 0ｹ1010608apple0006060909. 05 apple046 70706 060307apple07000ｸ8, 0ｹ10809-6 700000003090ｹ00006010900 0300036ｦ0000909030ｸ8 07036 5000ｹ06ｦ00ｸ903 096ｦ0 01070003apple070200 6ｦ001-03096 50007060309 6 700006ｦ0 09, 01apple070300 03076 707, 03076 70403 07 040602076 502096 56ｦ00300 0900 04010ｷ3090ｸ9 6 5 000003 03070ｹ001076 50ｸ803 0304036ｦ00ｷ30906 6 5060200 06036 50900 06080700-036ｦ00000076 707 00096ｦ003090009apple076 56ｦ00009fl 030003090209apple076 56ｦ00000076 707 0ｷ30903070909-006ｦ0 6 5 0309030900 [64]. ｨｦ 000903 0909 090603070ｹ0000901076 5 0ｹ108090304036ｦ00ｷ30906 0307080003 fl6 5-02fl030006fl 09 6ｦ00103096 50007060300 050401-030003090203apple6ｦ000060200apple6ｦ009. ｨｪ6ｦ001, 006ｦ008apple090300apple, 0ｸ80207 0807016ｦ0096ｦ00007, 0ｹ00307 0304036ｦ00ｷ30909 6 5 6 700006ｦ003 Dnmt3a 09 Dnmt3l 04 030ｸ8040006 6 500 0403 01 08070300apple00 090308apple0900-0309006 76ｦ0 09 apple6ｦ000000006 0ｹ103 apple09070200036ｦ002000007060309 [65]. ｨｦ 006ｦ00107, 016ｦ001 040800 070303000ｹ06ｦ002070600, 04 0ｹ00002076 500016ｦ0 0304036ｦ00ｷ30909 6 70000076 5 050401-030003090203apple6ｦ000060200apple6ｦ009 0807016ｦ0 0000 07 006ｦ0apple040800000ｸ8 08apple09 6 70207 6ｦ00200000703 006ｦ0apple040400000909 0406036ｦ000076 502000009fl 090308apple0900030900-6 76ｦ0 6 5 0602040ｹ06ｦ0fl03 09apple07 09030002000601076 707 08070200076 707 0804090ｸ8apple00076 707 096ｦ00007066ｦ0 [17]. 05 0007apple0300 08apple0709060307 0903 06010707apple 090009apple076 56ｦ000-006ｦ0fl 03apple6ｦ0000601apple09080ｷ309fl 6 70000076 5 DNMT1, DNMT302 09 DNMT305, 01070307apple6ｦ0fl 006ｦ0apple04046ｦ0000306fl 6 5 070804030702fl03, 6 7 00 006ｦ0 02070000 040300apple000000076 707 08076 50ｸ804000009fl 0ｹ1010608apple0006060909 DNMT1, DNMT302 6 50ｸ80607010906 04apple076 5000000 0ｹ1010608apple0006060909 070303000ｹ00000 02fl DNMT305 [66]. 05020708006ｦ0fl 0603apple04010304apple6ｦ0 6 70000076 5 050401-030003090203apple6ｦ000060200apple6ｦ009 09 0107 09apple0400030ｸ803 090309 000201076 5 08apple00 0807026ｦ06 76ｦ00003 006ｦ002090ｹ00900 04 000903 apple6ｦ009000707 apple6ｦ009000ｸ803 apple006 704-02fl0307apple000ｸ803 0ｹ1020003000003076 5. ｨｨ07016ｦ0096ｦ0006ｦ0 apple070200 0002016ｦ0 DNMT3L 6 5 apple006 70402fl0ｷ30909 030003090209apple076 56ｦ00009fl 050401 de novo 09 0406036ｦ000076 50200000909 6 70000070300076 707 090308apple09000309006 76ｦ0 6 5 07076 700-00000900, 6ｦ0 6 5 6ｦ00606070ｷ3096ｦ00ｷ30909 06 6 70906030700076 50706 006ｦ00ｷ3000309026ｦ0090706 0ｹ1030703 00020701 6 50ｸ808070200fl0003 020400010ｷ3090ｸ9 03apple6ｦ0000601apple09080ｷ3090700-00076 707 apple0008apple00060607apple6ｦ0 [67]. DNMT3L 0000 08apple07fl6 502fl0003 03apple6ｦ000060200apple6ｦ009000706 6ｦ00103096 50007060309, 036ｦ001 016ｦ001 04 00006 707 0703060403-06036 5040ｸ903 090209 040107apple070ｹ000000ｸ8 000006010702000107 01020ｸ90ｹ0006 50ｸ803 6ｦ00309-0007010906020703000ｸ803 030703096 5076 5, 6 5 0307 0800 6 5apple0003fl 0700 06030903040209apple040003 6ｦ00103096 50007060300 DNMT3A 09 DNMT3B 09 08applefl0307 06 00090309 6 5096ｦ0090307 000606036 5040003. ｨｦ 000903 0909 0300036ｦ000090903076 5 apple00-6 70402fl0ｷ30909 0ｹ1010608apple0006060909 DNMT3L fl6 502fl000306fl 030003090209apple07-6 56ｦ0000900 006 707 08apple0703070307apple00076 707 apple006 70907006ｦ0. 05000606036 509030002000007, 0ｹ1010608apple00060609fl 6 700006ｦ0 Dnmt3L 0ｸ8026ｦ0 070303000ｹ000006ｦ0 6 5 0ｹ103 apple0907-006ｦ00200000ｸ803 06036 50702076 50ｸ803 01020003016ｦ003 030ｸ80409, 08apple090ｹ00003 6 50600 0906060200 076 56ｦ000000ｸ800 CpG- 090004010200070309 0ｸ8 0ｹ103076 707 6 700006ｦ0 07016ｦ0096ｦ002090600 0000 030003090209apple076 56ｦ0000ｸ8, 6 5 0307 6 5apple0003fl 016ｦ001 6 5 09020200apple00000ｷ309apple076 56ｦ000000ｸ803 01020003016ｦ003 070009 006ｦ00307 0902090600 6 5 030003090209apple076 56ｦ000000703 0607060307fl000909 [68]. 070000 DNMT1 0ｹ00002076 500016ｦ0 0903000003 07 0900 6 7026ｦ06 5000ｸ806 09 03apple09 03090007apple000ｸ803 040ｹ06ｦ00603016ｦ0 0900090ｷ3096ｦ00ｷ30909, 06 01070307apple0ｸ803 0307080003 09 0309 03apple6ｦ0000601apple09080ｷ309fl. ｨｦ 026ｦ0060300 6 7026ｦ06 500076 707 08apple0703070307apple6ｦ0 6 700006ｦ0 DNMT1 ｨC P1 070302090ｹ06ｦ0000306fl 006ｦ002090ｹ0090003 CpG-0807060200-076 56ｦ003000200000706030006, 6 5 0307 6 5apple0003fl 016ｦ001 07 026ｦ0060309 03090007apple000ｸ803 08apple0703070307apple076 5 ｨｺ2ｨCｨｺ4 0903 0000 0903000ｸ903 [69]. 070000 Dnmt1 030ｸ80409 0903000003 apple006 70402fl0307apple000ｸ806 0ｹ1020003000003 02ｨｺ-1, 01070307apple0ｸ806 6ｦ00103096 509apple04000306fl 0ｹ000apple0009 Ras-Jun-08apple070307070001076 70000000ｸ806 06096 7006ｦ00200000ｸ806 08040300 09 apple0008apple00060609apple04000306fl Rb-060408apple00060607apple0703 0708040307020006. ｨｨapple0703070307apple006ｦ0fl 07 026ｦ0060300 0ｹ103076 707 6 700006ｦ0 0607 00apple- 080903 29 CpG- 090004010200070309 076 5, 6 50ｸ808070200fl0ｸ90ｸ70903 02040001-0ｷ3090ｸ9 0600000607apple6ｦ0 0607060307fl0009fl 030003090209apple076 56ｦ00009fl 6 7000007036ｦ0. 046ｦ0
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050204040107 070004ｨｦ05 05 070004ｨｦ0200 ｨｮ0000ｨｦ05000102 1367 070600076 56ｦ0000909 0ｹ1030903 6ｦ000000ｸ803 060207apple03040209apple076 56ｦ0006ｦ0 6 70908070300096ｦ0 07 apple006 70402fl0ｷ30909 0ｹ1010608apple0006060909 6 700006ｦ0 DNMT1 0807 08apple09000ｷ3090804 07 apple6ｦ003000706 066 5fl0909, 01076 7 6ｦ0 030003090209apple076 56ｦ000006ｦ0fl 050401 apple006 704-0209apple040003 0ｹ1010608apple000606090ｸ9 6 700006ｦ0 DNMT1 6 5 cis-080702070800000909. ｨｪ6ｦ0010700 07 ｨBfl060000000900 06076 7026ｦ00604000306fl 06 086ｦ0apple6ｦ0 0701066ｦ00200000ｸ803 fl6 5020000090003 06040ｸ70006036 5076 56ｦ00009fl 6 5 apple6ｦ001076 50ｸ803 01020003016ｦ003 07 0ｸ700-6 707 6 7090807030003090209apple076 56ｦ00009fl 6 7000007036ｦ0 006ｦ0 02070000 6 50ｸ8060701076 707 04apple076 500fl 050401-030003090203apple6ｦ000060200apple6ｦ009000706 6ｦ00103096 50007060309 [70]. ｨｨapple070ｷ300060609006 7 09 0ｹ1000909036ｦ003090ｹ00006010900 01076 56ｦ002000003000ｸ800 0307 090209016ｦ00ｷ30909 036ｦ0010800 03076 70403 0307 040209apple076 56ｦ00300 6ｦ00103096 5-0007060300 050401-030003090203apple6ｦ000060200apple6ｦ009. ｨｪ6ｦ001, 0307 090209016ｦ00ｷ309fl 03000309026ｦ0090ｸ8 Dnmt36ｦ0 04 09016 509030900070807 07 000ｸ803 0800080309 0703 SUMO-1 apple006 7040209apple040003 0000 6 5096ｦ0090307 000606036 50900 06 006ｦ00ｷ3000309-026ｦ0096ｦ00309 6 70906030700076 5 09 6ｦ00103096 50007060300 016ｦ001 03apple6ｦ0000601apple09080ｷ3090700-00076 707 apple0008apple00060607apple6ｦ0 [71]. ｨｦ0607 0ｸ806 6 509 01070003apple0702fl 030003090209apple076 56ｦ00009fl 050401 0307080003 08apple070307 090300 006ｦ0 04apple076 50000 050401-000201076 50ｸ803 6 5096ｦ009-0307 000606036 50906. 05000606036 509030002000007, 026ｦ0010307apple 03apple6ｦ0000601apple0908-0ｷ30909 Sp1 0ｹ06ｦ0060307 0ｸ86 56ｦ00003 6ｦ00606070ｷ30909apple076 56ｦ000 06 0000030003090209apple076 56ｦ000000ｸ80309 CpG-070603apple076 5016ｦ00309, 096ｦ008apple000ｸ76ｦ0fl 0903 de novo 030003090209apple076 56ｦ0000900 09 0807 00apple08096 56ｦ0fl, 036ｦ0010903 07 apple6ｦ0090703, 010700060309030403096 500040ｸ9 0ｹ1010608apple000606090ｸ9 [72]. 05 070300070400000909 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 006ｦ0apple040400000900 0903 0ｹ108096 7000000-03090ｹ0000601076 707 06036ｦ00304066ｦ0 036ｦ0010800 0307080003 09 0309 0ｹ000apple0009 09090300-0000000900 apple006 70402fl0ｷ30909 6ｦ00103096 50007060309 090209 07090ｸ8 000001070307apple0ｸ803 000201076 5, 006ｦ008apple090300apple 05TCF. ｨｴ030703 00020701 07 026ｦ0 6ｦ00003 6 50ｸ8apple6ｦ0080000000ｸ803 0ｹ100036ｦ0000600apple- 02070109apple040ｸ90ｸ70903 0ｹ102020001030703, 01070307apple0ｸ806 0ｸ802 08apple07 000307000603apple09apple076 56ｦ000 6 50ｸ80400 006ｦ0 08apple09-0300apple00 01070003apple0702fl 09ｨ 1 IGF2/H19. CTCF 0903000003 050401-066 5fl090ｸ86 56ｦ00ｸ90ｸ70906 07030000, 0607060307fl0ｸ70906 0909 030703096 56ｦ0 11 0ｷ3090001076 50ｸ803 086ｦ002000ｷ3006 5, 01070307apple0ｸ806 0ｹ10202000103096 50007 09 060800-0ｷ30902090ｹ00007 066 5fl090ｸ86 56ｦ0000306fl 06 0000030003090209apple076 56ｦ000000706 050401. 020003090209apple076 56ｦ000000700 0607060307fl000900 050401 00026ｦ00003 00006 50709-030708000ｸ803 6 5096ｦ0090307 000606036 50900 0002016ｦ0 06 03apple07036ｦ00309000703. 0204036ｦ00ｷ30909 066ｦ00603076 5 066 5fl090ｸ86 56ｦ00009fl 08apple096 507 fl03 01 08070300apple00 0608070607 0007060309 CTCF 02070109apple076 56ｦ00300 0ｹ100036ｦ0000600apple, 6ｦ0 046 500-02090ｹ000000900 08070300000ｷ3096ｦ00200000ｸ803 066ｦ00603076 5 066 5fl090ｸ86 56ｦ00009fl, 006ｦ0-08apple0703096 5, 04060902096 56ｦ00003 0ｹ10202000103 02070109apple076 50109 [73]. 01apple07-0300 03076 707, 0ｸ80207 0807016ｦ0096ｦ00007, 0ｹ00307 0ｹ102020001030ｸ8 CTCF 0307-6 70403 0ｸ80300 0307 0902090ｷ309apple076 56ｦ0000ｸ8 000606036 5090003 apple046 70903 apple006 70402fl0307apple000ｸ803 0300036ｦ000090903076 5. ｨｪ6ｦ001, 09006 709 09apple076 56ｦ0000900 0200apple030000036ｦ0 08070209-020506-apple09 07090902080702090300apple6ｦ0090ｸ8 0307080003 0403000000046ｦ00300 0ｹ100036ｦ0000600apple- 02070109apple040ｸ90ｸ70000 000606036 50900 CTCF 04 030ｸ80409, 0ｹ00307 08apple096 507 0903 01 6ｦ00103096 56ｦ00ｷ30909 0ｹ1010608apple0006-060909 Igf2 006ｦ0 036ｦ00300apple090006010706 03apple07030706070300 [74]. 0300020109, 0807 07 000ｸ800 CTCF, 6 5 030703 0ｹ009060200 09 0000 6ｦ06 50007 09 000003090209-0ｷ309apple076 56ｦ000000ｸ806 BORIS (Brother of Regulator of Imprinting Cites) ｨC 086ｦ0apple6ｦ002076 7 CTCF, 03076 70403 096 7apple6ｦ00300 01020ｸ90ｹ0006 5040ｸ9 apple070200 6 5 apple006 70402fl0ｷ30909 0ｹ1010608apple0006060909 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 6ｦ0 036ｦ0010800 6 5 07 000608000ｹ000000909 006ｦ0060200 076 56ｦ00009fl 0ｹ108096 700-000003090ｹ0000601076 707 06036ｦ00304066ｦ0, 080706010702000104 0706036ｦ00ｸ90306fl 6ｦ00606070ｷ309-09apple076 56ｦ000000ｸ80309 0607 066 507090309 066ｦ006036ｦ00309 066 5fl090ｸ86 56ｦ00009fl 6 507 6 5apple0003fl 01020003070ｹ000076 707 0002000009fl [75, 76]. ｨｬapple076 5000000 S-6ｦ0 00000709090203000309070009006ｦ0 02fl apple006ｦ0010ｷ30906 030003090209apple076 56ｦ00009fl 050401 096ｦ06 509060903 0000 030702000107 0703 6ｦ00103096 5-0007060309 6 700000003090ｹ00006010903 060906030003 0300036ｦ0 07020909036ｦ0 0207026ｦ0-03076 5, 0007 09 0703 0607 00apple086ｦ00009fl 02070209006 50706 0109060207030ｸ8 09 6 509-036ｦ00309006ｦ0 B12 6 5 06apple00 00. ｨｨ070ｹ103070304 000004 096 509030002000007, 0ｹ00307 0ｹ108096 700000003090ｹ00006010906 06036ｦ0030406, 6 5 000001070307apple0706 06030008000009, 0307-080003 096ｦ06 50906000300 09 0703 apple6ｦ00ｷ30907006ｦ0. ｨｪ6ｦ0010900 006ｦ0 020ｸ9 000009fl 0ｸ8-0209 06 00026ｦ0000ｸ8 08apple09 0906060200 076 56ｦ0000909 apple6ｦ00902090ｹ0000ｸ803 030908076 5 070804030702006 50ｸ803 07 apple6ｦ009076 56ｦ0000906, 6ｦ0 036ｦ0010800 6 5 0ｹ101060800apple09030000-036ｦ003 006ｦ0 0307 000200000ｸ803 08096 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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050204040107 070004ｨｦ05 05 070004ｨｦ0200 ｨｮ0000ｨｦ05000102 1373 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, 634050 Russia; e-mail: igor.lebedev@medgenetics.ru 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.