ABCMdb

PMID: 16912456

Okazaki K
[Genetic abnormality and pancreatitis].
Nihon Shokakibyo Gakkai Zasshi. 2006 Aug;103(8):911-7., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCC7 p.Arg117His 3 ௻db;e2;᜕ᶒఔa8d;ఉĴb;İc;,d8;c6;ed;᜕ᶒKc7;f8b;௼Qe8; e8a;ᡠ΂b;௻dee;ᶒĲf;Ĳa;௤&#ff0e; N34S ᜕ᶒĲb;ఐĴa;, ea;b8;f3;fc; a4;bd;ed;a4;b7;f3;Ze8;f4d; (K42-142) Ĳe;5cd;fdc;ឋİc;᜕ᓄ௱, Vcb;˿d;ᑖYe3;σb;bb3;4b9;ʧc;İc;e1b;f31;௳Ĵb;5ef;Pfd;ឋİc;ὃ௨఑Ĵc;௺ ௤Ĵb;&#ff0e; ᱯ˿a;ឋ᠒ឋQb5;˄e;௻Ĳf; 25~40% Ĳe; ad8;᳛Ĳb;a8d;ఉ ఑Ĵc;Ĵb; N34S d8;c6;ed;᜕ᶒĲf;,eba;5e3;Ĳe;d04; 1% Ĳb;e00;̶c; Ĳb;a8d;ఉ఑Ĵc;Ĵb;&#ff13; &#ff10;) &#ff0e; ௱İb;௱Ĳa;İc;఑, b9f;ωb;Ĳb;Ĳf;d8;c6;ed;᜕ ᶒఔᨵ௳Ĵb;eba;İc;fc5;ıa;௱ఊ᠒ឋQb5;˄e;Ĳb;Ĳa;Ĵb;Ĵf;௫௻Ĳf; Ĳa;௤ıf;ఉ,İa;ıd;఑İf;,ed6;Ĳe;΋a;f1d;b50;ᶒe38;ఌJb0;᛻8e0;b50; Ĳa;௽İc;4a0;Ĵf;௷௺Qb5;˄e;ఔ˿a;Kc7;௳Ĵb;ఊĲe;௼ὃ௨఑Ĵc; Ĵb;&#ff0e;ĳe;ıf;,b27;c73;eba;Ĳe;ᛊᔠ,db;e2;᜕ᶒĲf;ᱯ˿a;ឋ᠒ឋ Qb5;˄e;Ĳe;d04; 10% a0b;ea6;Ĳb;a8d;ఉ఑Ĵc;, d8;c6;ed;᜕ᶒĲe;fdd;ᨵ 914 ᳛İb;఑?a8;bdf;௳Ĵb;௼db;e2;᜕ᶒĲf;eba;5e3; 4 e07;eba;Ĳb; 1 eba;Ĳe; ϗb;ea6;İc;<f3;b9a;௯Ĵc;Ĵb;&#ff0e;ᱯ˿a;ឋQb5;˄e;İc; 16000 eba;Ĳb; 1 eba; ௻௢Ĵb;௭௼ఐĴa;&#ff13; &#ff10;) ,N34S db;e2;᜕ᶒĲe; penetration Ĳf; 25% ee5;e0a;௼ὃ௨఑Ĵc;Ĵb;&#ff0e;ıd;Ĳe;ed6;Ĳe; SPINK1 ᜕ ᶒĲb;Ĳf;, ATG Ze8;ᑖĲe;ξb;;cb;b3;c9;f3;Ĳb;d8;c6;ed;᜕ᶒఔİd; ıf;௳ M1T ᜕ᶒఔᨵ௳Ĵb; 1 bb6;cfb;Ĳe;ᛇȠa;İc;௢Ĵb;&#ff12; &#ff19;) &#ff0e; ௭ Ĳe;΋a;f1d;f62;f0f;Ĳf;Ȁa;ឋ΋a;f1d;௼əd;Ĵf;Ĵc;Ĵb;İc;,N34S ௻Ĳf; SPINK1 [cf;ఔe1b;c11;௯ıb;, 4a3;ឋ΋a;f1d;f62;f0f;ఔ௼Ĵb;&#ff0e; ௭Ĳe; ఐ௦Ĳb; SPINK1 ΋a;f1d;b50;Ĳe;ᛊᔠ,ᑩĲe;᜕ᶒఔᩭıf;௱ ௺ఊ,ᶒĲa;Ĵb;΋a;f1d;f62;f0f;Ĳb;ఐĴa;d50;ʧc;ḄĲb;Ȝc;௲Qe8;e8a;2cf; ఔ௼Ĵb;௼ὃ௨఑Ĵc;Ĵb;&#ff13; &#ff11;) &#ff0e; 3&#ff0e;Cystic fibrosis transmembrane conductance regulator(CFTR)΋a;f1d;b50;Ĳe;᜕ᶒ௼Qb5;˄e; Ĳe;௦Pde;ឋdda;dad;Kc7;(CF)௻Ĳf;b8c;ᐰĲa;Qb5;a5f;Pfd;e0d;ᐰİb; ఑ĳb;ĳc;b63;e38;a5f;Pfd;ĳe;௻e45;e83;௤Qb5;Kc5;᜕ఔᕈ௳Ĵb;௭௼İc; Me5;఑Ĵc;௺௤Ĵb;&#ff0e;Kc7;faf;ឋQb5;˄e;Ĳf; CF ఌQb5;a5f;Pfd;e0d;ᐰ<a3; ὅĲe; 1~2% Ĳb;ĳf;఑Ĵc;Ĵb;&#ff13; &#ff12;) &#ff0e;CFTR ΋a;f1d;b50;Ĳf;b2c; 7 Cd3;⁐f53;(7q31)e0a;Ĳb;b58;ᙠ௱,d04; 250kb,27 a8;af;bd; f3;İb;఑Ĳa;Ĵb;ᜧİd;Ĳa;΋a;f1d;b50;௻௢Ĵa;,af;ed;e9;a4;c9;c1;e3; f3;cd;eb;ఔb3;fc;c9;௳Ĵb;İc;,Qb5;௻Ĳf;Qb5;ba1;e0a;Lae;d30;Pde;Ĳb;˿a; Ife;௱௺[cd;Fad;⏚a4;aa;f3;ᑖccc;Ĳb;[cd;⌕Ĳa;2cd;İd;ఔ௱,CF Ĳb;İa;௤௺Ĳf; CFTR ΋a;f1d;b50;᜕ᶒİc;[cd;⌕௻௢Ĵb;௭௼ İc;Ae2;Ĳb;ᛇȠa;௯Ĵc;௺௤Ĵb;&#ff0e; Sharer ఑Ĳf; 134 f8b;Ĳe;Qb5;˄e; <a3;ὅĲe;௦௵ 18 f8b; (13.4%) Ĳb; CFTR ΋a;f1d;b50;Ĳe;d8;c6; ed;᜕ᶒఔa8d;ఉ௺İa;Ĵa;,bb6;Acf;b74;Ĳe;Ĳa;௤᠒ឋQb5;˄e;<a3;ὅ 60 f8b;e2d; 12 f8b;௻ఊ௭Ĳe;᜕ᶒఔa8d;ఉ௺௤Ĵb;&#ff13; &#ff13;) &#ff0e;ĳe;ıf;, Cohn ఑Ĳf; 27 f8b;e2d; 17 f8b;௻ CFTR ΋a;f1d;b50;᜕ᶒఔa8d; ఉ ௺ ௤ Ĵb;&#ff13; &#ff14;) &#ff0e;CFTR ᶒ e38; Ĳb; 9fa; ௹ İf; ᠒ ឋ Qb5; ˄e; Ĳf; CFTR d8;c6;ed;᜕ᶒ௢Ĵb;௤Ĳf;ed6;Ĳe;΋a;f1d;b50;ᶒe38;ఊ௼ ఊĲa;௦⋋ᔠɂb;ᶒe38;Ĳb;ఐĴb;e38;Cd3;⁐f53;4a3;ឋ΋a;f1d;f62;f0f;௼ ὃ௨఑Ĵc;௺௤Ĵb;&#ff12; &#ff19;) &#ff0e; CF ௻Ĳf;ĳb;௼క௽İc;db;e2;᜕ᶒ௻ ௢Ĵb;İc;,Qb5;˄e;௻Ĳf;d8;c6;ed;᜕ᶒ௻௢Ĵb;௭௼İc;ɏa;İf;, Ĵf;İc;8fd;௻Ĳf;d77;᜜Ĳe;᜕ᶒ௼Ĳf;ĳe;௷ıf;İf;ᶒĲa;Ĵb;௭௼İc; ʔe;఑İb;Ĳb;௯Ĵc;௺௤Ĵb;&#ff0e;Kimura ఑Ĳf;,᠒ឋQb5;˄e; 47 f8b;(a2;eb;b3;fc;eb;ឋ 31 f8b;,ᱯ˿a;ឋ 14 f8b;,bb6;Acf;ឋ 2 f8b;)Ĳe; CFTR ΋a;f1d;b50;ఔʳc;d22;௱,࢞F508 ௼ R117H ᜕ᶒĲf;a8d;ఉĲa;௤ఊĲe;Ĳe;,a4;f3;c8;ed;f3; 8 Ĳe;΋a;f1d;b50;ɏa; ɂb;Ĳe;ϗb;ea6;İc;ʔe;఑İb;Ĳb; ad8;௤௭௼ఐĴa;,Ae5;ʠc;eba;Ĳe;᠒ឋ Qb5;˄e;Ĳb;_a2;Ĵf;Ĵb;5ef;Pfd;ឋఔ̙a;ᖂ௱ıf;&#ff13; &#ff15;) &#ff0e; 4&#ff0e;b1;1-antitrypsin ΋a;f1d;b50;᜕ᶒ௼Qb5;˄e; b1;1-antitrypsin Ĳf;⊈e2d;Ĳb;b58;ᙠ௳Ĵb;˯f;ᳮḄĲa;c8;ea; d7;b7;f3;σb;bb3;ᱥcea;௻௢Ĵa;,ıd;Ĳe;b20;ʀd;Ĳf;ᳮad6;ḄĲb;Ĳf;᠒ ឋQb5;˄e;Ĳe;țf;8e0;Ĳb;Ĳa;Ĵb;5ef;Pfd;ឋİc;௢Ĵa;,b9f;ωb;ıd;Ĳe;5ef;Pfd; ឋఔ̙a;ᖂ௳Ĵb;Kc7;f8b;ఊᛇȠa;௯Ĵc;௺Ĳf;௤Ĵb;İc;&#ff13; &#ff16;) ,ᔲb9a; ḄĲa;ᛇȠa;ఊ௢Ĵb;&#ff0e;b2c; 14 Cd3;⁐f53;e0a;Ĳb;b58;ᙠ௱ 12.2kb ╩௻ 7 ௸Ĳe;a8;af;bd;f3;ఐĴa;Ĳa;Ĵb;΋a;f1d;b50;௻௢Ĵb;&#ff0e;Witt ఑Ĳf; 96 f8b;Ĳe;᠒ឋQb5;˄e;ఔYe3;᪆௱,PiS ௼ PiZ ௼௤௦ 2 ௸Ĳe; b1;1-antitrypsin ΋a;f1d;b50;b20;ʀd;ఔa8d;ఉıf;İc;, ᠒ឋ Qb5;˄e;௼Ĳe;_a2;⌿ឋĲf;ĳf;௤௴ıb;Ĳa;İb;௷ıf;&#ff13; &#ff11;) &#ff0e;Ife;᧲Fb9;௻ Ĳf; b1;1-antitrypsin İc;᠒ឋQb5;˄e;Ĳe;țf;8e0;Ĳb;_a2;e0e;௳Ĵb;5ef; Pfd;ឋĲf;e0d;ʔe;௻௢Ĵa;,eca;f8c;Ĳe;ʳc;a0e;İc;fc5;⌕௼ὃ௨఑Ĵc; Ĵb;&#ff0e; İa;Ĵf;Ĵa;Ĳb; f93;ᩭ,᠒ឋQb5;˄e;Ĳe;a73;d30;Ĳa;˿a;Kc7;a5f;e8f;Ĳf;ʔe;఑İb;௻Ĳa; İb;௷ıf;İc;,΋a;f1d;ឋQb5;˄e;Ĳe;Kc5;8e0;΋a;f1d;b50;᜕ᶒĲe;Ȝc;b9a;Ĳb; ఐĴa;,Qb5;˄e;˿a;Kc7;Ĳe;a5f;e8f;İc;ᑖb50;ec;d9;eb;௻Ye3;᪆௯Ĵc;Ĵb; ఐ௦Ĳb;Ĳa;௷ıf;&#ff0e;ᛇȠa;௯Ĵc;௺௤Ĵb;΋a;f1d;b50;ᶒe38;Ĳe;௳ఇ ௺İc;Qb5;˄e;˿a;Kc7;Ĳe;țf;8e0;Ĳb;Ĳa;௷௺௤Ĵb;İb;Ĳf;eca;Ĳe;௼௭Ĵd; e0d;ʔe;௻eca;f8c;Ĳe;ʳc;a0e;ఔ⌕௳Ĵb;İc;, Qb5;˄e;௼c8;ea;d7;b7;f3;, c8;ea;d7;b7;f3;a4;f3;d2;d3;bf;fc;௼Ĳe;_a2;⌿ឋĲb;௸௤௺d7;ed; bb;c3;b7;f3;b0;ωc;bb3;,d3b;ឋᓄea2;⍈,e0d;d3b;ᓄea2;⍈Ĳa;௽Ĳe; a5f;e8f;İc;ὃ௨఑Ĵc;௺İa;Ĵa;,ıd;Ĵc;఑ఔe2d;fc3;Ĳb;ff0;ఇıf;&#ff0e; ᦻ ˜e; 1)ca1;d0e;Ȥc;e00;:᠒ឋQb5;˄e;Ĳe;Kc5;ɦb;௼cbb;ᷚ&#ff0e;Ae5;ʠc;ᑁOd1;b66;f1a; b66;f1a;`d1;a8c; 94 ; 71ߟ76 : 2005 2)Comfort MW, Steinberg AG : Pedigree of a family with hereditary chronic relapsing pancreatitis . Login to comment