1307000400ｨｪｨ 0102, 2008, 030703 44, 6ｧ8 10, 06. 1356ｨC1373 ｨｬ0501 577.21+575.22:599.9 ｨｦ03ｨ ｨｦｨｺ040100 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050204040107 070004ｨｦ05 05 070004ｨｦ0200 ｨｮ0000ｨｦ05000102: 0100020505ｨ 06ｨ 010209ｨ ｨｹ, ｨｨｨｺｨ ｨｮｨ 0401 05ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ, 0505ｨｹｨ ｨｲ 05 04020500000505ｨｪ05000404ｨｦ09 ｨｨ02ｨｪｨｦ00ｨｦ07ｨ 0009 08 2008 6 7. ｨ. 04. 0000 00 006 5, 00. 02. 056ｦ0080000076 56ｦ0 046ｦ0040ｹ00007-0906060200 076 56ｦ00300020006010906 0900060309030403 0300 090ｷ3090006010706 6 700000003090109 ｨｪ07030601076 707 006ｦ0040ｹ000076 707 0ｷ3000003apple6ｦ0 0509 09apple0601076 707 0703 0002000009fl ｨｺ070606090606010706 6ｦ0016ｦ0 00030909 0300 090ｷ3090006010903 006ｦ00401, ｨｪ07030601 634050; e-mail: igor.lebedev@medgenetics.ru ｨｨ070603040809026ｦ0 6 5 apple00 6ｦ0010ｷ3090ｸ9 20.09.2007 6 7. 0700000703000ｸ806 090308apple09000309006 7 ｨC 0ｹ108096 700000003090ｹ00006010906 02000007030000, 036ｦ0apple6ｦ0010300apple0909040ｸ90ｸ7090606fl 030700076ｦ00202000200000706 0ｹ1010608apple000606090006 6 700-00076 5 6 5 096ｦ06 50906090307060309 0703 0903 apple07 09030002000601076 707 08apple070906030708 000009fl. 02070200010402flapple00040ｸ9 070600076 504 036ｦ0010706 0ｹ1010608apple0006060909 060706036ｦ06 5-02fl0ｸ903 01076 56ｦ002000003000ｸ800 0307 090209016ｦ00ｷ30909 050401 09 6 70906030700076 50ｸ803 000201076 5, 0406036ｦ0006ｦ06 502096 56ｦ000030ｸ800 08apple09 060709apple006 56ｦ0000909 080702076 50ｸ803 010200030701. 020007036ｦ0020909 0207apple0309apple076 56ｦ00009fl 6 70000070300076 707 090308apple09000309006 76ｦ0 6 5 6 76ｦ0030003076 70000000900 090209 006 707 0807 00apple086ｦ00009fl 006ｦ0 apple6ｦ009-02090ｹ0000ｸ803 0ｹ1036ｦ0086ｦ003 070003076 7000000096ｦ0, 6 50ｸ8096 56ｦ000000ｸ800 6ｦ0 00appleapple6ｦ00003000ｸ80309 0ｹ108096 700000003090ｹ0000601090309 0307 090209016ｦ00ｷ309fl0309 03apple07036ｦ00309006ｦ0, 08apple000903040ｸ70006036 500000007 006ｦ0apple0404000009fl0309 06036ｦ00304066ｦ0 030003090209apple076 56ｦ00009fl 050401, fl6 502fl0ｸ90306fl 07 000706 0909 0207apple03 0304036ｦ00ｷ3090700000706 0909-0300000ｹ0096 507060309 090308apple09000309apple076 56ｦ000000ｸ803 0207010406076 5 6 7000007036ｦ0. 05 006ｦ0060307fl0ｸ70003 07 0907apple00 apple6ｦ00606036ｦ003apple096 56ｦ0000306fl 0608000103apple 0ｹ108090304036ｦ0-0ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 08apple096 507 090306fl 0903 01026ｦ00606090209016ｦ00ｷ309fl, 6ｦ0 036ｦ0010800 07 060408 6ｦ00ｸ90306fl 6 50709030708000ｸ800 08apple090ｹ009000ｸ8 6 5070900090100076 5000009fl 09 apple070200 6 5 0ｹ103090702076 70909 006ｦ0060200 06036 50000000ｸ803 096ｦ0 0702006 56ｦ0000906 0ｹ00002076 500016ｦ0. ｨｪapple6ｦ0 090ｷ30907000007 006ｦ0060200 06036 50000000700 apple6ｦ009000707 apple6ｦ0090900 0200-0007030908076 5 04 6 509 6ｦ0 07 ｨBfl0600fl000306fl 0ｹ000apple0009 09090300000ｹ0096 507060300 0800apple6 5090ｹ0000706 0603apple04010304apple0ｸ8 030702000104020ｸ8 050401. ｨｦ 006ｦ00107 6 5 0807-060200 000000 6 5apple0003fl 090003000006096 50007 006ｦ0016ｦ00802096 56ｦ00ｸ90306fl 6ｦ000000ｸ800, 066 509 000300020006036 5040ｸ90ｸ70900 07 030703, 0ｹ00307 0708apple00 00020000000ｸ806 6 501026ｦ0 6 5 09090300000ｹ0096 507060300 02000007030908090ｹ00006010903 08apple0909006ｦ001076 5 03076 70403 6 5000706090300 6 56ｦ0apple096ｦ00ｷ30909 6 5 0603apple04010304apple000706 07apple6 76ｦ00009096ｦ00ｷ30909 03apple07-036ｦ00309006ｦ0, 0708apple00 0002fl0ｸ90ｸ70900 6ｦ00103096 5000700 090209, 006ｦ008apple0703096 5, 0000-6ｦ00103096 5000700 0607060307fl000900 6 70000076 5 0009 0909030000000009fl 0903 0107 09apple04-0ｸ90ｸ70006 0807060200 076 56ｦ0030002000007060309 [1ｨC3]. ｨｪ6ｦ0010900 6 56ｦ0apple096ｦ00ｷ30909, 080702040ｹ0096 5040900 006ｦ0096 56ｦ0000900 0ｹ108090304036ｦ00ｷ30906 [4], 08apple00 06036ｦ06 502fl- 0ｸ903 0607 0706 0706036ｦ003070ｹ00007 0409apple07010906 0608000103apple 090903000000000906, 096ｦ003apple6ｦ06 7096 56ｦ00ｸ90ｸ70903 0ｹ1010608apple000606090ｸ9 6 70000076 5. 05apple00 09 000903 030708-0007 0703030003090300 030003090209apple076 56ｦ0000900 CpG- 090004010200070309 076 5 6 5 060706036ｦ06 500 050401, 01076 56ｦ002000003000ｸ800 0307 090209016ｦ00ｷ30909 6 70906030700076 5 (6ｦ00ｷ30003090209apple076 56ｦ0000900, 030003090209apple076 56ｦ0000900, 0207060207apple090209apple076 56ｦ0-000900, 04 09016 509030900090209apple076 56ｦ0000900), 6ｦ00103096 50007060300 036ｦ0020ｸ803 apple00-6 70402fl0307apple000ｸ803 09 09000300apple0200apple09apple040ｸ90ｸ70903 ｨｺ0401. 0507 0603000ｸ700-00090003 6ｦ0010ｷ3000003076 5 6 5 06076 5apple00030000000706 6 700000003090100 6 5 07 026ｦ0060300 020400010ｷ30907006ｦ00200000706 6 700000703090109 0909040ｹ000000900 apple6ｦ009000707 apple6ｦ00909fl, 0300036ｦ000090903076 5 6 5070900090100076 5000009fl 09 006ｦ0060200 076 56ｦ00009fl 0ｹ108090304-036ｦ00ｷ30906 6 50ｸ8090ｸ86 56ｦ00003 09006ｦ00ｹ00903000200000ｸ806 09000300apple0006. ｨｨ07 000001070307apple0ｸ803 08apple00 0807020708000009fl03, 0ｹ06ｦ0060307036ｦ0 0ｹ108090304036ｦ00ｷ30906 0307080003 006ｦ0 07 0900ｨC 6 56ｦ0 0807applefl 016ｦ0 08apple006 50ｸ8046ｦ00300 0ｹ06ｦ00603070304 6 70000000ｸ803 0304-036ｦ00ｷ30906 [5], 6ｦ0 060200 076 56ｦ0030002000007 0903 6 501026ｦ0 6 5 006ｦ0060200 06036 50000-00040ｸ9 09090300000ｹ0096 507060300, 6 5 030703 0ｹ009060200 09 04 0ｹ00002076 500016ｦ0, 0807016ｦ0 0706036ｦ0000306fl 0000 07070ｷ300000000000ｸ803. ｨｦ 000706 0909 04 07 000ｸ803 0307 000200000ｸ803 060906030003 02fl 0906060200-076 56ｦ00009fl 0ｹ108090304036ｦ00ｷ30906 fl6 502fl000306fl 6 700000703000ｸ806 090308apple0900-0309006 7, 08apple00 06036ｦ06 502fl0ｸ90ｸ70906 0607 0706 0ｹ108096 700000003090ｹ00006010906 0200-0007030000, 07 000608000ｹ0096 56ｦ00ｸ90ｸ70906 030700076ｦ0020200020000040ｸ9 0ｹ1010608apple0006-06090ｸ9 6 70000076 5 6 5 096ｦ06 50906090307060309 0703 0903 apple07 09030002000601076 707 08apple070906030708 000009fl [6]. 02070200010402flapple000706 070600076 50706 0807 00apple- 086ｦ00009fl 036ｦ0010706 0ｹ1010608apple0006060909 fl6 502fl000306fl 6 5 070600076 5000703 0902-0200apple00000ｷ3096ｦ00200000700 030003090209apple076 56ｦ0000900 08apple0703070307apple000ｸ803 apple006 709-0700076 5 090308apple09000309apple076 56ｦ000000ｸ803 0207010406076 5 090209 apple006 70402fl0307apple000ｸ803 0807060200 076 56ｦ003000200000706030006, 036ｦ001 006ｦ0090ｸ86 56ｦ000030ｸ803 0ｷ3000003apple076 5 0903-08apple09000309006 76ｦ0 (09ｨ ), 006ｦ0 apple6ｦ009000ｸ803 apple07 090300020006010903 01070809fl03 03apple070307060703. 05070807020009030002000007 0300036ｦ0000909030ｸ8 090308apple09000309006 76ｦ0 03076 70403 07 000608000ｹ0096 56ｦ0030006fl 0307 090209016ｦ00ｷ309fl0309 6 70906030700076 5 09 6ｦ00103096 500070603000ｸ9 036ｦ0020ｸ803 apple006 70402fl0307apple000ｸ803 ｨｺ0401. 0509020200apple00000ｷ3096ｦ00200000700 030003090209apple076 56ｦ0000900 090308apple09000309apple076 56ｦ000000ｸ803 6 700-00076 5 090209 09ｨ 0207apple0309apple04000306fl 6 5 080702076 50ｸ803 01020003016ｦ003 apple07 09-0300020006 09 060703apple6ｦ000fl000306fl 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003 0807030703-06036 56ｦ0, 016ｦ001 08apple6ｦ06 5090207, 006ｦ0 08apple0703fl0800000909 6 5060003 06036ｦ0 0906 070003076 7000000096ｦ0. 0502fl 030003090209apple076 56ｦ00000076 707 6ｦ002020002fl 090308apple0900-0309apple076 56ｦ00000076 707 6 700006ｦ0 036ｦ0apple6ｦ0010300apple0007 070306040306036 50900 0ｹ1010608apple0006-060909, 03076 7 6ｦ0 016ｦ001 0000030003090209apple076 56ｦ000000ｸ800 6ｦ00202000209 fl6 502fl0ｸ90306fl 020400010ｷ30907006ｦ002000007 6ｦ00103096 5000ｸ80309. ｨｴ08090304036ｦ00ｷ30909 (006ｦ0apple0404000009fl 06036ｦ00304066ｦ0 030003090209apple076 56ｦ00009fl 050401 ｨC 016ｦ001 07 0900 0909 0903 6 56ｦ0apple096ｦ00003076 5) 03076 70403 08apple096 500060309 01 6 50401apple6ｦ00300070304 046 50002090ｹ00000090ｸ9 07090ｸ8 090308apple09000309apple076 56ｦ00000076 707 6 700006ｦ0 6 5 0602040ｹ06ｦ000 6 7090807030003090209apple076 56ｦ00009fl 00006ｦ00103096 500076 707 6 5 0007apple0300 6ｦ002020002fl, 03076 7 6ｦ0 016ｦ001 6 7090800apple030003090209apple076 56ｦ0000900 00 0900-06036 5000000076 707 6ｦ00103096 500076 707 6ｦ002020002fl, 006ｦ008apple0703096 5, 6 50ｸ809076 50003 080702-000700 070306040306036 50900 08apple07 0401036ｦ0 6 700006ｦ0 6 5 010200030100. ｨｦ0ｹ0006 509 0007, 0ｹ00307 0608000103apple 0ｹ108090304036ｦ00ｷ30906 6 5 090308apple09000309apple076 56ｦ000000ｸ803 02070104-066ｦ003 6 7000007036ｦ0 (6 7090807-090209 6 7090800apple030003090209apple076 56ｦ0000900 6ｦ0020200020006 006ｦ0 036ｦ00300apple090006010703 090209 07030ｷ3076 506010703 6 707030702076 76ｦ003) 07016ｦ0090ｸ86 56ｦ0-000306fl 07020000 0409apple07010903, 0ｹ00003 02fl 096ｦ002020002000007 0ｹ1010608apple00060609apple040ｸ90ｸ7090306fl 6 70000076 5. 00060209 6ｦ00103096 50007060300 0807060200 000903 apple006 704-0209apple04000306fl 030003090209apple076 56ｦ000090003 08apple0703070307apple00076 707 apple006 70907006ｦ0, 0307 0ｹ108090304036ｦ00ｷ30909 04 0403 076 7apple6ｦ000090ｹ000000ｸ8 6 7090800apple030003090209apple076 56ｦ0-00090003 050401. 09000200 006ｦ0060307fl0ｸ7006 707 0906060200 076 56ｦ00009fl ｨC apple6ｦ006-06030703apple00000900 0608000103apple6ｦ0 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 04 0ｹ00002076 500016ｦ0 (006ｦ0 04apple076 50000 090903000000000906 06036ｦ00304066ｦ0 1356
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 1357 030003090209apple076 56ｦ00009fl 050401), 6 56ｦ0apple096ｦ00003076 5 0903 6 50709030708000706 01026ｦ00606090209016ｦ00ｷ30909, 08070300000ｷ3096ｦ00200000ｸ803 0300036ｦ000090903076 5 09 08apple090ｹ00900 6 5070900090100076 5000009fl, 6ｦ0 036ｦ0010800 apple070209 6 5 0ｹ103090702076 70909 applefl 6ｦ0 006ｦ0060200 06036 50000000ｸ803 096ｦ0 0702006 56ｦ0000906. 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 0200070204ｨ ｨ 02ｨｦ05 ｨ 07 05ｨｦｨ 04ｨ 0104ｨｦ050004ｨ ｨｹ ｨｨapple0008 00 0ｹ00003 08apple0906030408090300 01 apple6ｦ00606030703apple0000090ｸ9 apple6ｦ0090007-07 apple6ｦ00909fl 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5, 0000-07 0307 090307 0703030003090300, 0ｹ00307 6 5 06076 5apple00030000000706 02090300apple6ｦ00304apple00 08apple00 020708000007 apple6ｦ00902090ｹ06ｦ00300 0800apple6 5090ｹ0000ｸ800 09 6 50307apple090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 [5]. ｨｨ00apple6 5090ｹ0000ｸ800, 090209 ｰ0906030900000ｸ800 ｱ, 0ｹ10809-0304036ｦ00ｷ30909 08apple00 06036ｦ06 502fl0ｸ903 0607 0706 0000080706apple00 06036 50000000ｸ800 0307 090209016ｦ00ｷ30909 06036ｦ00304066ｦ0 030003090209apple076 56ｦ00009fl 050401 6 5 apple006 704-02fl0307apple000ｸ803 07 026ｦ00603fl03 6 700006ｦ0, 08apple096 507 fl0ｸ70900 01 0909030000000009fl03 006 707 0ｹ1010608apple0006060909 0009 006ｦ0apple0404000009fl 0107 09apple040ｸ90ｸ70006 0807060200-076 56ｦ0030002000007060309. 050307apple090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 036ｦ0010800 036ｦ0- apple6ｦ0010300apple0909040ｸ90306fl 6ｦ0 00appleapple6ｦ00003000ｸ80309 0307 090209016ｦ00ｷ309fl0309 03apple07036ｦ00309006ｦ0, 07 006ｦ00107 0ｹ10309 0909030000000009fl 07 040602076 50200000ｸ8 cis- 090209 trans-0304036ｦ00ｷ309fl0309 6 5 apple046 70903 02070104066ｦ003, 01070003apple070209apple04-0ｸ90ｸ70903 006 707 0ｹ108096 700000003090ｹ0000601040ｸ9 07apple6 76ｦ00009096ｦ00ｷ3090ｸ9. ｨｨapple090300apple6ｦ00309 6 50307apple090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906, 066 5fl096ｦ000000ｸ803 06 cis-0ｹ102-020001036ｦ00309, fl6 502fl0ｸ90306fl 6 7090800apple030003090209apple076 56ｦ0000900 CGG-08076 5-0307apple076 5 6 5 6 7000000 FMR1 08apple09 046 50002090ｹ000000909 0903 0107080906 08apple09 060900 apple070300 026ｦ0apple0309006ｦ0ｨC03000202 [7] 090209 6 7090807030003090209apple076 56ｦ0-000900 3.3 030800 036ｦ000 000300076 707 08076 50307apple6ｦ0 D4Z4 6 5 0604 030002070300apple- 000703 apple6ｦ006070000 03apple0703070607030ｸ8 4 06 0403000000040000090003 0ｹ00906026ｦ0 006 707 0107080906 (030000000400 11) 08apple09 6ｦ00403070607030007-070309006ｦ00003000703 060900 apple070300 ｨC 02090ｷ3006 50706 09 0802000ｹ0000207086ｦ003070ｹ0000706 090603apple07020909 [8]. 046ｦ009 07020000 flapple010903 08apple090300apple0703 trans-0ｹ10202000103076 5 fl6 5-02fl000306fl 6 7apple0408086ｦ0 03apple07036ｦ0030900076 50ｸ803 07020009000006 (060900 apple07030ｸ8 ICF, ｨｺ0003036ｦ0, 0107020209006ｦ0ｨC006ｦ004apple09, ｨｺ04 090004030006006ｦ0ｨCｨｪ0006 09 09 applefl apple046 70903), 07 040602076 5020000000ｸ803 0304036ｦ00ｷ309fl0309 6 5 6 700006ｦ003, 0107 09apple040ｸ90ｸ70903 00020109 09 0200apple030000030ｸ8, 040ｹ06ｦ006036 5040ｸ90ｸ70900 6 5 0ｹ108096 700000003090ｹ00006010706 apple0007apple6 76ｦ00009096ｦ00ｷ30909 03apple07036ｦ00309006ｦ0 [9]. ｨｦ0ｹ0006 509 0007, 0ｹ00307 6 5 070600076 500 6 50307apple090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906 0200086ｦ003 0304036ｦ00ｷ30909 6 5 6 700006ｦ003, 08apple07 0401030ｸ8 01070307apple0ｸ803 01070003apple07-0209apple040ｸ903 03apple6ｦ0000601apple09080ｷ309070000040ｸ9 6ｦ00103096 50007060300 03apple07036ｦ00309006ｦ0. ｨｨ070ｹ103070304 0ｹ06ｦ0060307036ｦ0 6 50307apple090ｹ0000ｸ803 0ｹ108090304036ｦ00ｷ30906 0607080706036ｦ06 509-036ｦ0 06 0ｹ06ｦ0060307030706 6 70000000ｸ803 0304036ｦ00ｷ30906 09 0ｹ10309 0909030000000009fl 08apple09-06040306036 5040ｸ903, 016ｦ001 08apple6ｦ06 5090207, 6 507 6 5060003 01020003016ｦ003 07apple6 76ｦ0000909036ｦ0. 050ｸ806016ｦ0090ｸ86 56ｦ0000306fl 08apple00 080702070800000900, 0ｹ00307 6 5 070302090ｹ00900 0703 6 50307apple090ｹ0000ｸ803 0800apple6 5090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 03076 70403 6 507090009016ｦ00300 06 6 707apple6ｦ009 07 07020000 6 50ｸ80607010706 0ｹ06ｦ0060307030706 [5]. 01apple070300 03076 707, 0800apple6 5090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 03076 70403 0ｸ80300 076 7apple6ｦ000090ｹ000000ｸ8 0703-000200000ｸ80309 01020003016ｦ00309 090209 03016ｦ000fl0309 07apple6 76ｦ0000909036ｦ0, 0ｹ00307 096ｦ0-03apple04 00fl0003 0903 09 000003090209016ｦ00ｷ3090ｸ9 (09 060707036 5000306036 500000007 070ｷ300000104 0ｹ06ｦ0060307030ｸ8) 09 07 040602076 502096 56ｦ00003, 6 5 applefl 00 0602040ｹ06ｦ0006 5, 07020000 03fl6 7010700 02000007030908090ｹ00006010700 08apple07fl6 50200000900. ｨｨ00apple6 5090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909, 0000 006ｦ0apple04046ｦ0fl 0807060200 076 56ｦ0-030002000007060309 050401, 0909030000fl0ｸ903 01070002096 704apple6ｦ00ｷ3090ｸ9 03apple07036ｦ00309-006ｦ0, 01070307apple0ｸ806 0307080003 006ｦ00307 09030006fl 6 5 03apple6ｦ0000601apple09080ｷ30907000007 6ｦ00103096 5000703 090209 00006ｦ00103096 5000703 0607060307fl000909. ｨｬ 03020001070809036ｦ0-0ｸ90ｸ70903 0ｹ108096 700000003090ｹ00006010700 0807 6ｦ06 50200000900 0ｹ1010608apple0006060909 6 700-00076 5 060708apple076 50708 6ｦ0000306fl 030003090209apple076 56ｦ000090003 0ｷ3090307090900076 50ｸ803 0706036ｦ00301076 5 6 5 07 026ｦ0060309 CpG- 090004010200070309 076 5 6 5 08apple0703070307apple- 000ｸ803 apple006 70907006ｦ003. 05 030003090209apple076 56ｦ000000ｸ80309 apple006 70907006ｦ00309 (CpG-070603apple076 5016ｦ00309) 6 5096ｦ0090307 000606036 5040ｸ903 03000309020ｷ3090307090900-066 5fl090ｸ86 56ｦ00ｸ90ｸ70900 00020109, 01070307apple0ｸ800 0307 09020909040ｸ903 6 5 0ｹ10309 040ｹ06ｦ006030109 036ｦ001apple0703070200010402flapple000ｸ800 0200apple030000036ｦ003096 5000ｸ800 01070308020001060ｸ8, 0ｹ00307 09 0207apple0309apple040003, 6 5 010700000ｹ0000703 0903076 700, 03apple6ｦ0000601apple09080ｷ30907000007 00006ｦ00103096 500040ｸ9 0603apple04010304apple04 03apple07036ｦ00309-006ｦ0. 020003090209apple076 56ｦ0000900 050401 0706040ｸ70006036 502fl0ｸ903 050401-0300030902- 03apple6ｦ000060200apple6ｦ0090ｸ8, 016ｦ0036ｦ002090909apple040ｸ90ｸ70900 0800apple00000706 030003090200000706 6 7apple0408080ｸ8 06 S-6ｦ0 00000709090203000309070009006ｦ0 006ｦ0 0706036ｦ0030109 0ｷ30903070909006ｦ0 6 5 CpG-0807060200 076 56ｦ00300020000070603fl03. ｨｨ07 apple07 00070304 apple6ｦ00606030703apple0000090ｸ9 6 50708apple0706076 5 0406036ｦ000076 502000009fl 030003090209apple076 56ｦ00009fl 09 0207apple0309apple076 56ｦ00009fl 03apple6ｦ0000601apple09080ｷ30907000007 00006ｦ00103096 5000ｸ803 03apple07-036ｦ0030900076 50ｸ803 0107030802000106076 5 0807066 5fl0ｸ70000 applefl 07 0907apple076 5 6 5 0703000ｹ00006036 50000000706 09 096ｦ0apple04 0008000706 02090300apple6ｦ00304apple00 [9ｨC13]. ｨｨapple09 6ｦ0006ｦ002090900 0ｹ108090304036ｦ00ｷ30906 000007 0307 090307 040ｹ009030ｸ86 56ｦ00300 09 070003076 700000003090ｹ0000601040ｸ9 0608000ｷ30902090ｹ00007060300 0ｹ108096 700000003090ｹ000-06010903 08apple070ｷ3000606076 5 006ｦ0 apple6ｦ009000ｸ803 0ｹ1036ｦ0086ｦ003 0900 096 509 046ｦ0020000076 707 apple6ｦ0096 5090309fl 07apple6 76ｦ0000909036ｦ0. 046ｦ009 07020000 09006ｦ00ｹ009030ｸ800 090903000000-0009fl 0ｹ108096 700000003090ｹ00006010706 07apple6 76ｦ00009096ｦ00ｷ30909 6 7000007036ｦ0 08apple0709060307- fl03 08apple09 060709apple006 56ｦ0000909 080702076 50ｸ803 010200030701 09 006ｦ0 apple6ｦ000000903 0ｹ1036ｦ0-086ｦ003 08apple00-09 08070603090308026ｦ000036ｦ00ｷ309070000076 707 apple6ｦ0096 5090309fl 0302000107-0809036ｦ00ｸ90ｸ70903 [14]. 05076 5070104080007060300 096ｦ0010700070300apple000ｸ803 09 0807060200 076 56ｦ003000200000ｸ803 090903000000000906 036ｦ0apple6ｦ0010300apple6ｦ0 030003090209apple07-6 56ｦ00009fl 6 7000007036ｦ0 6 5 0ｹ10309 0800apple0907 0ｸ8 070003076 7000000096ｦ0 080702040ｹ009026ｦ0 006ｦ0096 56ｦ0000900 0ｹ108096 700000003090ｹ0000601076 707 apple0008apple076 7apple6ｦ0030309apple076 56ｦ00009fl (apple0906. 1). ｨｦ0007 006ｦ00ｹ009006ｦ0000306fl 6 5 08apple090307apple 096ｦ00200000ｸ803 08070207-6 50ｸ803 01020003016ｦ003 08apple09 0903 0807060304080200000909 6 5 6 707006ｦ0 0ｸ8. 050003000300-0209apple076 56ｦ000090ｸ9 0807 6 500apple6 76ｦ00ｸ90306fl 016ｦ001 090308apple09000309apple076 56ｦ000000ｸ800, 036ｦ001 09 0000090308apple09000309apple076 56ｦ000000ｸ800 02070104060ｸ8 6 7000007036ｦ0. ｨｪ6ｦ0010700 060309apple6ｦ0000900 0ｹ108096 700000003090ｹ00006010706 09000207apple036ｦ00ｷ30909 000007 0307 09-0307 02fl 07 000608000ｹ0000009fl 030703090807030000030007060309 080702076 50ｸ803 010200-030701, 6ｦ0 036ｦ0010800, 6 507090307080007, 09 02fl 04 6ｦ002000009fl 6ｦ0 00appleapple6ｦ00003-000ｸ803 0ｹ108096 7000007030908076 5. 0500030003090209apple076 56ｦ000000700 0607060307fl000900 03apple07036ｦ00309006ｦ0 060703apple6ｦ000fl000306fl 006ｦ0 0800apple0907 0706036ｦ000076 50109 03090307096ｦ0 6 5 03040806010903 080702076 50ｸ803 01020003016ｦ003 09 03000607096ｦ0 6 5 08000006010903 6 76ｦ0-0300036ｦ003. ｨｨapple09 6 5070907 00076 50200000909 0309030703090ｹ0000601076 707 0002000009fl 060800apple036ｦ003076 707000906 6 5 000903 096ｦ0080406016ｦ0000306fl 08apple070ｷ3000606 0406036ｦ000076 5-02000009fl 030003090209apple076 56ｦ00009fl de novo, 01070307apple0ｸ806 08070200070603000ｸ9 096ｦ06 500apple046ｦ0000306fl 01 06036ｦ0 0909 086ｦ003090300000ｸ8 03000607096ｦ0 I. 05 07070ｷ309036ｦ003 0800 0406036ｦ000076 50200000900 030003090209apple076 56ｦ00009fl 006ｦ00ｹ009006ｦ0000306fl 030702000107 02090400 6 5 0800apple0907 0903 060709apple006 56ｦ00009fl 09 096ｦ06 500apple046ｦ0000306fl 01 06036ｦ0-0909 0300036ｦ0026ｦ0090ｸ8 II. 01apple070300 03076 707, 08apple09 060709apple006 56ｦ0000909 08070207-6 50ｸ803 010200030701 6 5 000903 08apple0709060307 0903 08070207-096ｦ06 5090609030700 03000309-0209apple076 56ｦ0000900 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5. ｨｨ07060200 07080207 07036 507apple000009fl 006ｦ00ｹ009006ｦ0000306fl 6 50307apple6ｦ0fl 6 50702006ｦ0 apple0008apple076 7apple6ｦ0030309apple076 56ｦ00009fl, 01070307apple6ｦ0fl 096ｦ003apple6ｦ06 7096 56ｦ00003 6 700000703 0607-036ｦ003090ｹ00006010903 010200030701. ｨｦ030ｷ3076 506010900 03apple0703070607030ｸ8 00010700-00000609apple040ｸ90306fl, 08apple07036ｦ00309000ｸ8 6 5 060706036ｦ06 500 03apple07036ｦ00309006ｦ0 096ｦ00300-0ｸ76ｦ00ｸ90306fl 006ｦ0 6 709060307000ｸ8 09 096ｦ0080406016ｦ0000306fl 0ｸ80603apple0700 6ｦ00103096 5000700 00030003090209apple076 56ｦ0000900 07030ｷ3076 50601076 707 6 7000007036ｦ0. 026ｦ00300apple090006010906 6 700000703 08apple000300apple08006 56ｦ00003 08apple09 0ｹ1030703 07020000 0300 020000000700 086ｦ006-06096 5000700 00030003090209apple076 56ｦ0000900. ｨｨ0709 000000, 6 5 0800apple0907 090308026ｦ000-036ｦ00ｷ30909, 096ｦ0080406016ｦ0000306fl 08apple070ｷ3000606 030003090209apple076 56ｦ00009fl de novo, 01070307apple0ｸ806 09 08apple096 507 0903 01 0207apple0309apple076 56ｦ000090ｸ9 0608000ｷ30902090ｹ0000ｸ803 apple0906040001076 5 030003090209apple076 56ｦ00009fl 6 5 030003 090209 09000ｸ803 07 026ｦ00603fl03 6 700-0007036ｦ0 6 5 apple6ｦ00902090ｹ0000ｸ803 01020003016ｦ003. ｨｴ030703 08apple070ｷ3000606 07 000608000ｹ009-6 56ｦ00003 03016ｦ000000608000ｷ30902090ｹ00007060300 6 70000000706 0ｹ1010608apple0006060909 09 fl6 502fl- 000306fl 07 000903 0909 01020ｸ90ｹ0006 50ｸ803 0300036ｦ000090903076 5 01020003070ｹ0000706 0902-0200apple00000ｷ309apple076 50109 6 5 0307 00 070003076 7000000096ｦ0. 040007 0307 090307 0703030003090300, 0ｹ00307 090308apple09000309apple076 56ｦ000000ｸ800 6 700000ｸ8 0909 006 76ｦ00ｸ903
131358 0000 00 006 5, 056ｦ0080000076 56ｦ0 1 2 [2] 3 4 ｨｬapple076 5000000 CpG-030003090209apple076 56ｦ00009fl ｨｨapple090307apple 096ｦ00200000ｸ800 080702076 50ｸ800 010200030109 0209030709 G0 0200060709 ｨ 0308apple09000309apple076 56ｦ000000ｸ800 6 700000ｸ8 ｨｴ03 apple090700 ｨｪapple07020ｹ1010307 00apple036ｦ0 02096 7apple6ｦ00ｷ309fl ｨｺ0708 00000900 ｨｦ080207 07036 507apple00000900 05apple07 0200000900 ｨ 0308026ｦ000036ｦ00ｷ309fl 0509020200apple00000ｷ309apple076 5016ｦ0 05apple0003fl ｨｺ0906. 1. ｨｴ08096 700000003090ｹ00006010700 apple0008apple076 7apple6ｦ0030309apple076 56ｦ0000900 6 7000007036ｦ0. 036ｦ00300apple090006010906 09 07030ｷ3076 506010906 6 7000007030ｸ8; 036ｦ00300apple090006010906 6 700000703 (0000090308apple09000309apple076 56ｦ000000ｸ800 02070104060ｸ8); 07030ｷ3076 506010906 6 700000703 (0000090308apple09000309apple076 56ｦ000000ｸ800 02070104060ｸ8); 036ｦ00300apple090006010900 6ｦ00202000209 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5; 07030ｷ3076 506010900 6ｦ00202000209 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5. 090902apple6ｦ00309 07 0709006ｦ00ｹ000000ｸ8 01apple09-03090ｹ00006010900 0800apple0907 0ｸ8 apple0008apple076 7apple6ｦ0030309apple076 56ｦ00009fl 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5: 1 ｨC 060309apple6ｦ0000900 6 70000070300076 707 090308apple09000309006 76ｦ0 6 5 08apple090307apple- 096ｦ00200000ｸ803 080702076 50ｸ803 01020003016ｦ003; 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:
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 1359 2.2.1. 046ｦ0apple0404000009fl 096ｦ00ｸ709030ｸ8 030003090209apple076 56ｦ000000ｸ803 0000-0ｹ1010608apple00060609apple0400030ｸ803 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 700-00076 5 0703 00030003000209apple076 56ｦ00009fl 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003 08apple09 0ｹ108096 700000003090ｹ00006010703 apple0008apple076 7apple6ｦ0030309apple076 56ｦ0000909 (01apple09-03090ｹ00006010906 0800apple0907 3 006ｦ0 apple0906. 1). 2.2.2. 02 00appleapple6ｦ00003000700 6 7090800apple030003090209apple076 56ｦ0000900 0ｹ10106-08apple00060609apple0400030ｸ803 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 0307 00 0406036ｦ000076 502000009fl de novo 030003090209apple076 56ｦ00009fl 6 7000007-036ｦ0 08apple09 006 707 0ｹ108096 700000003090ｹ00006010703 apple0008apple076 7apple6ｦ0030309apple076 56ｦ0-000909 6 5 0607036ｦ003090ｹ00006010903 01020003016ｦ003 (01apple0903090ｹ00006010906 0800apple0907 4 006ｦ0 apple0906. 1). 2.2.3. 07090800apple030003090209apple076 56ｦ0000900 0ｹ1010608apple00060609apple0400030ｸ803 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 0607036ｦ003090ｹ000-06010903 01020003016ｦ003 (01apple0903090ｹ00006010906 0800apple0907 4 006ｦ0 apple0906. 1). 2.2.4. 07090807030003090209apple076 56ｦ0000900 00000ｹ1010608apple00060609apple0400030ｸ803 6ｦ0020200020006 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 0607036ｦ003090ｹ000-06010903 01020003016ｦ003 (01apple0903090ｹ00006010906 0800apple0907 4 006ｦ0 apple0906. 1). 3. 01026ｦ00606090209016ｦ00ｷ309fl 0ｹ108090304036ｦ00ｷ30906 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 0807 020400010ｷ30907006ｦ00200000706 09006ｦ00ｹ0090307060309 3.1. 07090807030003090209apple076 56ｦ0000900 00006ｦ00103096 500076 707 036ｦ00300apple0900-0601076 707 6ｦ002020002fl 090308apple09000309apple076 56ｦ00000076 707 6 700006ｦ0. 3.2. 07090807030003090209apple076 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 006ｦ0apple040400000906 036ｦ0apple6ｦ0010300apple6ｦ0 030003090209apple076 56ｦ00009fl 0903-08apple09000309apple076 56ｦ000000ｸ803 6 70000076 5. 04090800 0ｹ10309 08apple090300apple0ｸ8 04 0403 07 060408 00000ｸ8 6 5 0807060200 076 56ｦ0030002000007060309, 060707036 5000306036 5040ｸ9-0ｸ70006 01026ｦ00606090209016ｦ00ｷ30909 0ｹ108090304036ｦ00ｷ30906 0807 096ｦ003apple6ｦ06 7096 56ｦ000030ｸ803 02070104066ｦ003 6 7000007036ｦ0. ｨｴ08090304036ｦ00ｷ30909 090308apple09000309006 76ｦ0 006ｦ0 04apple076 50000 6 7000007036ｦ0 ｨｨapple090300apple0703 0ｹ108090304036ｦ00ｷ30906, 006ｦ0apple04046ｦ00ｸ90ｸ70903 6ｦ00103096 5-0007060300 0300076 70903 090308apple09000309apple076 56ｦ000000ｸ803 0207010406076 5 6 5 6 7000007-0300, fl6 502fl000306fl 09apple07 090300020006010906 080702000ｸ806 0804090ｸ8apple000ｸ806 096ｦ0000706 (03ｨｨｨｨｨ, BiCHM ｨC Biparental Complete Hydatidiform Mole) [17]. 016ｦ001 09096 50006030007, 01026ｦ00606090ｹ00006010906 080702000ｸ806 0804090ｸ8apple000ｸ806 096ｦ0000706 apple6ｦ0096 5096 56ｦ0000306fl 08apple09 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 30% 070200000ｸ803 06 05ｨｴ 0903000ｸ903 0307096ｦ0090ｹ0000ｸ806 036ｦ0apple6ｦ0010300apple 030003090209apple076 56ｦ00009fl 09ｨ, 08apple09 0ｹ1030703 0702fl 010200030701 06 0007apple036ｦ00200000ｸ803 0ｹ108096 70000070309080703 6 56ｦ0apple0009apple04-0003 0703 1 07 40% [28]. 0207096ｦ0090ｷ3090903 0807 0ｹ108090304036ｦ00ｷ309fl03 0307-080003 0307 0902090ｷ309apple076 56ｦ00300 036ｦ0apple6ｦ0010300apple 02000007030908090ｹ0000601076 707 08apple07fl6 502000009fl 000001070307apple0ｸ803 06090308030703076 5 096ｦ0 0702006 56ｦ00009fl. ｨｪ6ｦ001, 06 08apple090300000000090003 apple006 7apple00060609070000076 707 6ｦ0006ｦ00209096ｦ0 0ｸ80207 0406036ｦ000076 502000007, 0ｹ00307 086ｦ00ｷ3090000030ｸ8 06 07020000 6 50ｸ80607010903 08apple07-0ｷ30000030703 0007apple036ｦ002000007 030003090209apple076 56ｦ000000ｸ803 010200030701 0903000ｸ903 07020000 040300apple0000000ｸ800 01020900090ｹ00006010900 08apple0909006ｦ00109. ｨｬ 00000107-0307apple0ｸ803 070200000ｸ803 0307096ｦ0090ｹ0000ｸ800 0ｹ108090304036ｦ00ｷ30909 03076 70403 0607-08apple076 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) [http://igc.otago.ac.nz/home.html]. 056 56ｦ0 0ｷ3000003apple6ｦ0 090308apple09000309006 76ｦ0 IGF2/H19 (09ｨ 1) 09 LIT1/KCNQ1OT1 (09ｨ 2) 07 000608000ｹ0096 56ｦ00ｸ903 030700076ｦ0020200020000040ｸ9 0ｹ1010608apple000606090ｸ9 0ｹ1030903 6 70000076 5. 09ｨ 1 6 5 0007apple0300 006ｦ00307 090306fl 6 5 0000030003090209apple07-6 56ｦ000000703 0607060307fl000909 006ｦ0 036ｦ00300apple090006010703 6 707030702076 700. 05 000903 6 5096ｦ0090307 000606036 5040003 0608000ｷ30902090ｹ00006010906 00020701-apple006 704-02fl0307apple 090308apple09000309apple076 56ｦ000000ｸ803 066ｦ00603076 5 ｨC CTCF. ｨｴ030703 00-020701 020400010ｷ309070009apple040003 016ｦ001 066 507006 707 apple07 6ｦ0 03070200010402flapple- 000ｸ806 09090702fl0307apple, 02070109apple04fl 000606036 50900 0ｹ100036ｦ0000600apple6ｦ0, apple6ｦ006-0807020708000000076 707 0906036ｦ00200000000 6 700006ｦ0 H19, 0ｹ00307 00026ｦ00003 00006 50709030708000ｸ803 0ｹ1010608apple000606090ｸ9 090308apple09000309apple076 56ｦ00000076 707 6 700-006ｦ0 IGF2 06 036ｦ00300apple090006010706 03apple0703070607030ｸ8. 046ｦ0 07030ｷ3076 506010703 6 707030702076 700 09ｨ 1, 006ｦ008apple0703096 5, 006ｦ00307 090306fl 6 5 030003090209apple07-6 56ｦ000000703 0607060307fl000909. CTCF 0000 6 5096ｦ0090307 000606036 5040003 06 0300-03090209apple076 56ｦ000000706 0807060200 076 56ｦ00300020000070603000ｸ9 H19 09 0ｹ100036ｦ000-0600apple 07 000608000ｹ0096 56ｦ00003 0900090ｷ3096ｦ00ｷ3090ｸ9 03apple6ｦ0000601apple09080ｷ30909 IGF2. 09ｨ 2 (6 5 02090300apple6ｦ00304apple00 04080703apple00 02fl0ｸ90306fl apple6ｦ00902090ｹ0000ｸ800 006 707 060900070009030ｸ8 ｨC KCNQ1OT1, LIT1, KvDMR1 090209 KvLQT1) 0207016ｦ0020909076 56ｦ000 6 5 10-03 090003apple070000 6 700006ｦ0 KCNQ1, 030003090209apple076 56ｦ000 006ｦ0 036ｦ00300apple090006010706 03apple07030706070300 09 0ｹ10106-08apple00060609apple04000306fl 090601020ｸ90ｹ009030002000007 06 07030ｷ3076 50601076 707 6 7070307-02076 76ｦ0. ｨｨapple07 040103 03apple6ｦ0000601apple09080ｷ30909 ｨC 000003apple6ｦ000060209apple0400036ｦ0fl ｨｺ0401 (KCNQ1OT1) ｨC 6 50ｸ801020ｸ90ｹ06ｦ00003 6ｦ00103096 50007060300 6 7apple0408-080ｸ8 applefl 0703 apple6ｦ00608070207080000000ｸ803 090308apple09000309apple076 56ｦ000000ｸ803 6 700-00076 5 006ｦ0 07030ｷ3076 506010706 03apple07030706070300. 046ｦ0apple040400000900 07090ｸ8 090308apple09000309apple076 56ｦ000000ｸ803 6 70000076 5 6 5 apple006 709070000 11p15.5 08apple096 507 0903 01 0207apple0309apple076 56ｦ000090ｸ9 060900 apple07-036ｦ0 0509 00036ｦ0006ｦ0ｨC0300016 509036ｦ0 (050503, MIM 130650), 0807080402fl- 0ｷ3090700006ｦ0fl 0ｹ06ｦ0060307036ｦ0 01070307apple076 707 6 56ｦ0apple0009apple040003 0703 1 : 12000 07 1 : 25000 00076 507apple0708 0000000ｸ803. ｨｦ0600076 5000ｸ80309 096ｦ06 700070603090ｹ0000601090309 08apple0909006ｦ0016ｦ00309 096ｦ0 0702006 56ｦ00009fl fl6 502fl0ｸ90306fl 08apple00-09 08070603006ｦ0036ｦ00200000700 046 50002090ｹ000000900 apple0706036ｦ0 09 6 500066ｦ0, 036ｦ001apple07-6 70207060609fl, 6ｦ00007036ｦ0020909 apple0ｸ904000706 060300000109, 080408070ｹ0006ｦ0fl 6 7apple0ｸ8086ｦ0, 090209 0703026ｦ002070ｷ3000200. 01apple070300 03076 707, 070303000ｹ06ｦ00ｸ90306fl 6 70003096 7090800apple03apple070209fl, 000007006ｦ0036ｦ00200006ｦ0fl 6 70908076 7020901000309fl, 6 500apple0309016ｦ00200000ｸ800 07apple0709 0109 006ｦ0 04046ｦ003, 6ｦ00007036ｦ0020909 08070ｹ00001. ｨｨapple090300apple0007 04 5% 086ｦ00ｷ309000003076 5 090300000306fl 08076 50ｸ8040000000ｸ806 apple090601 apple6ｦ0096 5090309fl 0ｹ103 apple0907006ｦ00200000ｸ803 0708040307020006, 6 5 0ｹ06ｦ006030007060309 07080403070209 0509020003066ｦ0. 05 070302090ｹ00900 0703 05ｨｨ05 09 05ｨｴ, 6 7 00 0ｹ10809-0304036ｦ00ｷ30909 ｨC 0706036ｦ003070ｹ00007 apple00 010700 0607 0ｸ8030900, 08apple09 050503 070009 07036 5000306036 50000000ｸ8 096ｦ0 apple6ｦ0096 509030900 07020004090006036 56ｦ0 (60ｨC70%) 0602040ｹ06ｦ0006 5 096ｦ0 0702006 56ｦ00009fl. 05 06apple00 000003 0701070207 5ｨC10% 0ｹ108090304-