[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/16403#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/16403","headline":"Epstein-Syndrome-Wikipedia","name":"Epstein-Syndrome-Wikipedia","description":"\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4 \u975e\u5e38\u306b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u306f\u3001MyH9\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u30bb\u30d0\u30b9\u30c1\u30e3\u30f3\u75c7\u5019\u7fa4\u3001\u30d5\u30a7\u30d2\u30c8\u30ca\u30fc\u75c7\u5019\u7fa4\u3001\u30e1\u30a4\u30fb\u30d8\u30b0\u30ea\u30f3\u30fb\u30a2\u30ce\u30de\u30ea\u30fc\u3068\u3068\u3082\u306b\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306fMyH9\u95a2\u9023\u75be\u60a3\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3057\u307e\u3059\u3002 \u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d \u5de6\u304b\u3089\u53f3\u3078\uff1a\u8d64\u8840\u7403\uff08\u8d64\u8840\u7403\uff09\u3001\u8840\u5c0f\u677f\uff08\u6d3b\u6027\u5316\uff09\u3001\u767d\u8840\u7403 \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u67d3\u8272\u4f5322 Genlocus Q11.2\u306e\u30d2\u30c8\u306b\u4f4d\u7f6e\u3059\u308bMyH9\u907a\u4f1d\u5b50\u306e\u70b9\u7a81\u7136\u5909\u7570\u3067\u3059\u3002 [\u521d\u3081] [2] [3] \u907a\u4f1d\u5b50\u306f\u3001\u975e\u7b4b\u8089\u306e\u30df\u30aa\u30b7\u30f3\u578bIIA\uff08NMMHC-IIA\uff09\u306e\u91cd\u9396\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u5358\u7403\u3084\u8840\u5c0f\u677f\u3092\u542b\u3080\u4e00\u90e8\u306e\u8840\u7403\u306b\u3042\u308a\u3001\u30ab\u30bf\u30c4\u30e0\u30ea\u306b\u3042\u308a\u307e\u3059\uff08 \u30b3\u30af\u30ea\u30fc \uff09\u305d\u3057\u3066\u814e\u81d3\u3067\u8868\u73fe\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7a81\u7136\u5909\u7570R702H\u306f\u3001\u660e\u3089\u304b\u306bNMMHC-IIA\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u982d\u306e\u7acb\u4f53\u69cb\u9020\u306e\u5909\u5316\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u306e\u7d50\u679c\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u51dd\u96c6\u304cd\u00f6hle\u4f53\u3078\u306e\u4e71\u308c\u3067\u3042\u308a\u3001\u305d\u308c\u304c\u8840\u5c0f\u677f\u306e\u524d\u8eab\u7d30\u80de\u3067\u3042\u308b\u5de8\u6838\u7403\u306e\u7d30\u80de\u9aa8\u683c\u306e\u8aa4\u3063\u305f\u7d44\u7e54\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002 [4] \u3053\u308c\u306f\u3001\u8840\u5c0f\u677f\u306e\u4e0d\u8db3\uff08SO -Calclocytopenia\uff09\u3068\u767d\u8840\u7403\u5305\u542b\u3092\u4f34\u3046\u5927\u304d\u3055\u306e\u8840\u5c0f\u677f\u306e\u4e0d\u8db3\u306b\u3088\u3063\u3066\u9855\u5728\u5316\u3055\u308c\u3066\u3044\u308b\u30de\u30af\u30ed\u30c8\u30ed\u30f3\u30dc\u30b5\u30a4\u30c8\u30da\u30cb\u30a2\u306e\u539f\u56e0\u3067\u3059\u3002\u8840\u5c0f\u677f\u306e\u30b5\u30a4\u30ba\u306f\u3001\u8d64\u8840\u7403\u306e\u30b5\u30a4\u30ba\u3092\u8d85\u3048\u308b\u3053\u3068\u3055\u3048\u3042\u308a\u307e\u3059\u3002 [5] \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u5e0c\u5c11\u6027\u306b\u3088\u308a\u3001\u75ab\u5b66\u3068\u6709\u75c5\u7387\u306b\u95a2\u3059\u308b\u5b89\u5168\u306a\u30c7\u30fc\u30bf\u306f\u5229\u7528\u3067\u304d\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u6709\u75c5\u7387\u306f1\uff1a100,000\u3092\u5927\u304d\u304f\u4e0b\u56de\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u3068\u3053\u308d\u3001\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f100\u5bb6\u65cf\u672a\u6e80\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002 [5] NMMHC-IIA\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u4f4d\u7f6e\u306b\u3088\u308b\u3068\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3082\u73fe\u308c\u307e\u3057\u305f\u3002\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u306f\u3001\u8840\u5c0f\u677f\uff08\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\uff09\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u8840\u5c0f\u677f\u306e\u8ffd\u52a0\u6a5f\u80fd\u969c\u5bb3\uff08\u8840\u5c0f\u677f\u75c7\uff09\u304c\u8ffd\u52a0\u3055\u308c\u3066\u3044\u307e\u3059\u3002","datePublished":"2023-06-03","dateModified":"2023-06-03","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/author\/lordneo#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/author\/lordneo","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/d\/d6\/Autodominant_01.png\/220px-Autodominant_01.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/d\/d6\/Autodominant_01.png\/220px-Autodominant_01.png","height":"220","width":"220"},"url":"https:\/\/wiki.edu.vn\/all2jp\/wiki10\/archives\/16403","wordCount":1098,"articleBody":" \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4 \u975e\u5e38\u306b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u306f\u3001MyH9\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u30bb\u30d0\u30b9\u30c1\u30e3\u30f3\u75c7\u5019\u7fa4\u3001\u30d5\u30a7\u30d2\u30c8\u30ca\u30fc\u75c7\u5019\u7fa4\u3001\u30e1\u30a4\u30fb\u30d8\u30b0\u30ea\u30f3\u30fb\u30a2\u30ce\u30de\u30ea\u30fc\u3068\u3068\u3082\u306b\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306fMyH9\u95a2\u9023\u75be\u60a3\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3057\u307e\u3059\u3002  \u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d  \u5de6\u304b\u3089\u53f3\u3078\uff1a\u8d64\u8840\u7403\uff08\u8d64\u8840\u7403\uff09\u3001\u8840\u5c0f\u677f\uff08\u6d3b\u6027\u5316\uff09\u3001\u767d\u8840\u7403 \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u67d3\u8272\u4f5322 Genlocus Q11.2\u306e\u30d2\u30c8\u306b\u4f4d\u7f6e\u3059\u308bMyH9\u907a\u4f1d\u5b50\u306e\u70b9\u7a81\u7136\u5909\u7570\u3067\u3059\u3002 [\u521d\u3081] [2] [3] \u907a\u4f1d\u5b50\u306f\u3001\u975e\u7b4b\u8089\u306e\u30df\u30aa\u30b7\u30f3\u578bIIA\uff08NMMHC-IIA\uff09\u306e\u91cd\u9396\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u5358\u7403\u3084\u8840\u5c0f\u677f\u3092\u542b\u3080\u4e00\u90e8\u306e\u8840\u7403\u306b\u3042\u308a\u3001\u30ab\u30bf\u30c4\u30e0\u30ea\u306b\u3042\u308a\u307e\u3059\uff08 \u30b3\u30af\u30ea\u30fc 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-Calclocytopenia\uff09\u3068\u767d\u8840\u7403\u5305\u542b\u3092\u4f34\u3046\u5927\u304d\u3055\u306e\u8840\u5c0f\u677f\u306e\u4e0d\u8db3\u306b\u3088\u3063\u3066\u9855\u5728\u5316\u3055\u308c\u3066\u3044\u308b\u30de\u30af\u30ed\u30c8\u30ed\u30f3\u30dc\u30b5\u30a4\u30c8\u30da\u30cb\u30a2\u306e\u539f\u56e0\u3067\u3059\u3002\u8840\u5c0f\u677f\u306e\u30b5\u30a4\u30ba\u306f\u3001\u8d64\u8840\u7403\u306e\u30b5\u30a4\u30ba\u3092\u8d85\u3048\u308b\u3053\u3068\u3055\u3048\u3042\u308a\u307e\u3059\u3002 [5] \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u5e0c\u5c11\u6027\u306b\u3088\u308a\u3001\u75ab\u5b66\u3068\u6709\u75c5\u7387\u306b\u95a2\u3059\u308b\u5b89\u5168\u306a\u30c7\u30fc\u30bf\u306f\u5229\u7528\u3067\u304d\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u6709\u75c5\u7387\u306f1\uff1a100,000\u3092\u5927\u304d\u304f\u4e0b\u56de\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u3068\u3053\u308d\u3001\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f100\u5bb6\u65cf\u672a\u6e80\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002 [5] NMMHC-IIA\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u4f4d\u7f6e\u306b\u3088\u308b\u3068\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3082\u73fe\u308c\u307e\u3057\u305f\u3002\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u306f\u3001\u8840\u5c0f\u677f\uff08\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\uff09\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u8840\u5c0f\u677f\u306e\u8ffd\u52a0\u6a5f\u80fd\u969c\u5bb3\uff08\u8840\u5c0f\u677f\u75c7\uff09\u304c\u8ffd\u52a0\u3055\u308c\u3066\u3044\u307e\u3059\u3002 [6] \u65e2\u5b58\u306e\u8840\u5c0f\u677f\u306f\u3001\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u4eba\u3088\u308a\u3082\u8457\u3057\u304f\u5927\u304d\u3044\uff08\u30de\u30af\u30ed\u30c8\u6813\u6027\u7d30\u80de\u5ef6\uff09\u3002 \u60a3\u8005\u306e\u4e00\u90e8\u306f\u3001\u7279\u306b\u9ad8\u97f3\u57df\u3067\u9032\u884c\u6027\u306e\u96e3\u8074\u3092\u767a\u75c7\u3057\u307e\u3059\u3002 [6] 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A.\u30de\u30fc\u30c8\u30a4\u30f3\u30cd\u30c3\u30c6\u30a3u\u3002 a\u3002\uff1a \u30e1\u30a4\u30d8\u30b0\u30ea\u30f3\u306e\u7570\u5e38\u306e\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f5322q12.3-13.1\u306e1 MB\u9818\u57df\u306b\u5c40\u5728\u3057\u307e\u3059\u3002 \u306e\uff1a Am J Hum Genet\u3002 66\/2000\u3001S\u30021449\u20131454\u3002 PMID 10739770  \u2191  M. seriin\u3002a\u3002\uff1a \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\uff1a\u975e\u7b4b\u8089\u30df\u30aa\u30b7\u30f3\u91cd\u93969\u907a\u4f1d\u5b50\u306b\u5909\u7570\u3092\u4f34\u3046\u5225\u306e\u814e\u969c\u5bb3\u3002 \u306e\uff1a \u30cf\u30e0\u30b8\u30a7\u30cb\u30fc\u30c8\u3002 110\/2002\u3001S\u3002182\u2013186\u3002 PMID 11935325  \u2191 a b c  C.\u30c8\u30ea\u30c1\u30a7\u30c3\u30c8\uff1a \u30a8\u30d7\u30b9\u30bf\u30a4\u30f3\u75c7\u5019\u7fa4\u3002 2006\u5e7410\u6708\u3002  \u2191 a b  R. E.\u30b7\u30e3\u30fc\u30d5\uff1a \u5148\u5929\u6027\u304a\u3088\u3073\u5f8c\u5929\u6027\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\u3002 \u306e\uff1a \u6b62\u8840\u5b66\u3002 23\/2003\u3001S\u3002159\u2013169\u3002  \u2191  C. J.\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3u\u3002 a\u3002\uff1a \u907a\u4f1d\u6027\u5927\u6838\u7d30\u80de\u969c\u5bb3\u3001\u814e\u708e\u304a\u3088\u3073\u96e3\u8074\u3002 \u306e\uff1a \u5348\u524d\u3002 J. Med\u3002 52\/1972\u3001S\u3002299\u2013310\u3002 PMID 5011389 \u3002  K. E.\u30d2\u30fc\u30b9u\u3002 a\u3002\uff1a \u975e\u7b4b\u8089\u30df\u30aa\u30b7\u30f3\u91cd\u9396IIA\u5909\u7570\u306f\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u30de\u30af\u30ed\u30c8\u30f3\u30dc\u30b5\u30a4\u30c8\u30da\u30cb\u30a2\u306e\u30b9\u30da\u30af\u30c8\u30eb\u3092\u5b9a\u7fa9\u3057\u307e\u3059\u3002 \u306e\uff1a Am J Hum Genet\u3002 69\/2001\u3001S\u30021033\u20131045\u3002 PMID 11590545 \u5e0c\u5c11\u969c\u5bb3\u306e\u305f\u3081\u306e\u5168\u56fd\u6a5f\u95a2\uff1a \u307e\u308c\u306a\u969c\u5bb3\u306e\u30ce\u30fc\u30c9\u30ac\u30a4\u30c9\u3002 Lippincott Williams\uff06Wilkins\u30012003\u3001ISBN 0-7817-3063-5\u3002 J. G.\u30c9\u30e9\u30c3\u30af\u30de\u30f3\uff1a \u907a\u4f1d\u6027\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\uff1a\u4f4e\u8840\u5c0f\u677f\u6570\u304cITP\u3092\u610f\u5473\u3057\u306a\u3044\u5834\u5408\u3002 \uff08PDF; 306 kb\uff09\uff1a \u8840 \u3001103\/2004\u3001S\u3002390\u2013398\u3002 P. Mhawech\u3001S\u3002Abdus\uff1a \u7d99\u627f\u3055\u308c\u305f\u5de8\u5927\u8840\u5c0f\u677f\u969c\u5bb3\uff1a\u5206\u985e\u3068\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 \u306e\uff1a American Journal of Clinical Pathology 2000\u3001S\u3002176\u2013190\u3002 N. Pujol-Moix u\u3002\u306b \u3002\uff1a \u907a\u4f1d\u7684\u306bMyH9\u95a2\u9023\u969c\u5bb3\u306b\u304a\u3051\u308b\u9846\u7c92\u7403\u5305\u542b\u7269\u306e\u8d85\u5fae\u7d30\u69cb\u9020\u5206\u6790\u3002 \u306e\uff1a \u9020\u8840\u3002 89\/2004\u3001S\u3002330\u2013337\u3002 PMID 15020273 M. 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