{"id":17439,"date":"2026-01-22T05:08:49","date_gmt":"2026-01-22T05:08:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17439"},"modified":"2026-01-22T07:51:31","modified_gmt":"2026-01-22T07:51:31","slug":"prader-willi-angelman-syndrome-bp1-bp3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/prader-willi-angelman-syndrome-bp1-bp3\/","title":{"rendered":"Prader-Willi\/Angelman syndrome (BP1-BP3)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>15q11.2-q13\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>Type 1 \u6b20\u5931\uff08Class 1 Deletion\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203bBP1\u304b\u3089BP3\u307e\u3067\u306e\u5e83\u7bc4\u56f2\u6b20\u5931\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PWS (Prader-Willi Syndrome)<\/strong><\/li>\n\n\n\n<li><strong>AS (Angelman Syndrome)<\/strong><\/li>\n\n\n\n<li><strong>15q11-q13\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.2-q13\u9818\u57df\uff08BP1\u304b\u3089BP3\u307e\u3067\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u4e2d\u3067\u3082\u6975\u3081\u3066\u8907\u96d1\u306a\u69cb\u9020\u3092\u6301\u3064\u300c\u30b2\u30ce\u30e0\u5237\u308a\u8fbc\u307f\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u9818\u57df\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010BP1-BP3\u9818\u57df\u306e\u69cb\u9020\u7684\u8a73\u7d30\u3011<\/p>\n\n\n\n<p>15q11-q13\u9818\u57df\u306b\u306f\u3001\u7e70\u308a\u8fd4\u3057\u914d\u5217\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u300c\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\uff08BP\uff1a\u5207\u65ad\u70b9\uff09\u300d\u304c\u8907\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>BP1 (Breakpoint 1):<\/strong> \u6700\u3082\u8fd1\u4f4d\uff08\u4e2d\u5fc3\u4f53\u306b\u8fd1\u3044\u5074\uff09\u306b\u3042\u308b\u5207\u65ad\u70b9\u3002<\/li>\n\n\n\n<li><strong>BP2 (Breakpoint 2):<\/strong> BP1\u304b\u3089\u7d04500kb\uff08\u30ad\u30ed\u30d9\u30fc\u30b9\uff09\u9060\u4f4d\u306b\u3042\u308b\u5207\u65ad\u70b9\u3002<\/li>\n\n\n\n<li><strong>BP3 (Breakpoint 3):<\/strong> 15q13\u4ed8\u8fd1\u306b\u3042\u308b\u9060\u4f4d\u306e\u5207\u65ad\u70b9\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u3010Type 1 \u6b20\u5931\uff08BP1-BP3\uff09\u3068 Type 2 \u6b20\u5931\uff08BP2-BP3\uff09\u306e\u9055\u3044\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Type 2 \u6b20\u5931 (BP2-BP3):<\/strong> PWS\/AS\u306e\u6b20\u5931\u4f8b\u3067\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Type 1 \u6b20\u5931 (BP1-BP3):<\/strong> \u3054\u6307\u5b9a\u306eBP1\u304b\u3089BP3\u307e\u3067\u306e\u6b20\u5931\u3067\u3059\u3002Type 2\u3088\u308a\u3082\u7d04500kb\u9577\u304f\u3001BP1\u3068BP2\u306e\u9593\u306b\u3042\u308b**\u300cTUBGCP5\u300d\u300cCYFIP1\u300d\u300cNIPA1\u300d\u300cNIPA2\u300d**\u3068\u3044\u30464\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08Burnside-Butler\u9818\u57df\uff09\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001Type 1\uff08BP1-BP3\uff09\u306e\u60a3\u8005\u69d8\u306f\u3001\u901a\u5e38\u306ePWS\/AS\u3088\u308a\u3082\u9069\u5fdc\u884c\u52d5\u3084\u795e\u7d4c\u767a\u9054\u306b\u304a\u3044\u3066\u3088\u308a\u5f37\u3044\u56f0\u96e3\u3092\u793a\u3059\u3053\u3068\u304c\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u75be\u60a3\u5168\u4f53\u3068\u3057\u3066\uff1a15,000\u4eba \u301c 30,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PWS\/AS\u306e\u5185\u8a33:<\/strong> \u6b20\u5931\uff08BP1-BP3\u307e\u305f\u306fBP2-BP3\uff09\u304c\u539f\u56e0\u306e\u75c7\u4f8b\u306f\u3001PWS\u306e\u7d0470%\u3001AS\u306e\u7d0470\u301c75%\u3092\u5360\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>BP1-BP3\uff08Type 1\uff09\u306e\u5272\u5408:<\/strong> \u6b20\u5931\u578b\u306e\u75c7\u4f8b\u306e\u3046\u3061\u3001\u7d0430\u301c40%\u304c\u3053\u306e\u5e83\u7bc4\u56f2\u306aBP1-BP3\u6b20\u5931\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u8fd1\u5e74\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u308a\u3001BP1-BP2\u9593\u306e\u307f\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff0815q11.2 <strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3082\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u304c\u3001BP1-BP3\u3068\u3044\u3046\u5927\u304d\u306a\u6b20\u5931\u306f\u3001\u53e4\u5178\u7684\u306aPWS\/AS\u306e\u91cd\u75c7\u578b\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>15q11.2-q13\u9818\u57df\u306e\u300c\u5237\u308a\u8fbc\u307f\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u73fe\u8c61\u300d\u3068\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u9818\u57df\u306f\u540c\u3058\uff08BP1-BP3\uff09\u3067\u3042\u3063\u3066\u3082\u3001**\u300c\u3069\u3061\u3089\u306e\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u67d3\u8272\u4f53\u306b\u6b20\u5931\u304c\u3042\u308b\u304b\u300d**\u306b\u3088\u3063\u3066\u3001\u5168\u304f\u7570\u306a\u308b2\u3064\u306e\u75be\u60a3\uff08PWS\u307e\u305f\u306fAS\uff09\u306b\u306a\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4 (PWS) \u306e\u539f\u56e0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7236\u89aa\u7531\u6765<\/strong>\u306e15q11-q13\uff08BP1-BP3\uff09\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08SNRPN\u306a\u3069\uff09\u306f\u3001\u7236\u7531\u6765\u306e\u67d3\u8272\u4f53\u304b\u3089\u3057\u304b\u50cd\u304b\u306a\u3044\u3088\u3046\u306b\u8a2d\u8a08\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u7236\u7531\u6765\u304c\u6b20\u5931\u3059\u308b\u3068\u305d\u306e\u907a\u4f1d\u5b50\u304c\u30bc\u30ed\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4 (AS) \u306e\u539f\u56e0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6bcd\u89aa\u7531\u6765<\/strong>\u306e15q11-q13\uff08BP1-BP3\uff09\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u3042\u308b <em>UBE3A<\/em> \u907a\u4f1d\u5b50\u306f\u3001\u8133\u5185\u3067\u306f\u6bcd\u7531\u6765\u306e\u67d3\u8272\u4f53\u304b\u3089\u3057\u304b\u50cd\u304b\u306a\u3044\u305f\u3081\u3001\u6bcd\u7531\u6765\u304c\u6b20\u5931\u3059\u308b\u3068\u8133\u5185\u3067\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. BP1-BP3\u5e83\u7bc4\u56f2\u6b20\u5931\u306e\u5f71\u97ff<\/strong><\/p>\n\n\n\n<p>BP1-BP3\u6b20\u5931\u3067\u306f\u3001\u524d\u8ff0\u306e4\u3064\u306e\u907a\u4f1d\u5b50\uff08NIPA1, NIPA2, CYFIP1, TUBGCP5\uff09\u304c\u8ffd\u52a0\u3067\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u9aa8\u683c\u5f62\u6210\u3084\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u8f38\u9001\u306b\u95a2\u308f\u3063\u3066\u304a\u308a\u3001\u3053\u306e<strong>\u5fae\u5c0f<\/strong>\u306a\u9818\u57df\u306e\u8ffd\u52a0\u6b20\u5931\u304c\u3001\u77e5\u80fd\u3084\u884c\u52d5\u306e\u554f\u984c\u3092\u5897\u5e45\u3055\u305b\u308b\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u907a\u4f1d\u5b50\u304c1\u672c\u3057\u304b\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u5f0a\u5bb3\uff09\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>PWS\u3068AS\u3067\u75c7\u72b6\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u304c\u3001BP1-BP3\u6b20\u5931\u4f8b\u3067\u306f\u305d\u308c\u305e\u308c\u306e\u300c\u91cd\u75c7\u578b\u300d\u306e\u50be\u5411\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4 (PWS) \u306e\u75c7\u72b6\u3011<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3068\u54fa\u4e73\u56f0\u96e3:<\/strong> \u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u300d\u3068\u547c\u3070\u308c\u3001\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u5438\u3046\u529b\u304c\u5f31\u3044\u305f\u3081\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e7c\u5150\u671f\u304b\u3089\u306e\u904e\u98df\u3068\u80a5\u6e80:<\/strong> \u8133\u306e\u9593\u8133\uff08\u6e80\u8179\u4e2d\u67a2\uff09\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u7570\u5e38\u306a\u98df\u6b32\uff08\u904e\u98df\uff09\u304c\u73fe\u308c\u307e\u3059\u3002\u7ba1\u7406\u3092\u3057\u306a\u3044\u3068\u91cd\u5ea6\u306e\u80a5\u6e80\u3001\u7cd6\u5c3f\u75c5\u306b\u81f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u817a\u767a\u80b2\u4e0d\u5168:<\/strong> \u6027\u30db\u30eb\u30e2\u30f3\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u751f\u6b96\u5668\u306e\u767a\u80b2\u4e0d\u5168\u3084\u4e8c\u6b21\u6027\u5fb4\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong> \u30a2\u30fc\u30e2\u30f3\u30c9\u5f62\u306e\u76ee\u3001\u72ed\u3044\u524d\u982d\u90e8\u3001\u8584\u3044\u4e0a\u5507\u3001\u4e09\u89d2\u5f62\u306e\u53e3\u3002<\/li>\n\n\n\n<li><strong>\u6027\u683c\u30fb\u884c\u52d5\u306e\u7279\u6027:<\/strong> \u9811\u56fa\u3055\u3001\u30d1\u30cb\u30c3\u30af\u3001\u5f37\u8feb\u75c7\u72b6\u3002<strong>BP1-BP3\u6b20\u5931\u4f8b\u3067\u306f\u3001\u30d1\u30cb\u30c3\u30af\u3084\u5f37\u8feb\u75c7\u72b6\u3001\u8a00\u8a9e\u306e\u56f0\u96e3\u304c\u3088\u308a\u5f37\u3044\u50be\u5411<\/strong>\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u3010\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4 (AS) \u306e\u75c7\u72b6\u3011<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u975e\u5e38\u306b\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u7570\u306a\u884c\u52d5:<\/strong> \u983b\u7e41\u306a\u7b11\u3044\u3001\u5e78\u798f\u305d\u3046\u306a\u8868\u60c5\u3001\u591a\u52d5\u3001\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u52d5\u4f5c\uff08\u30cf\u30f3\u30c9\u30d5\u30e9\u30c3\u30d4\u30f3\u30b0\uff09\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\u3068\u632f\u6226:<\/strong> \u6b69\u884c\u304c\u304e\u3053\u3061\u306a\u304f\u3001\u624b\u8db3\u304c\u9707\u3048\u308b\u3088\u3046\u306a\u52d5\u304d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u5e7c\u5150\u671f\u304b\u3089\u91cd\u5ea6\u306e\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u3084\u3059\u304f\u3001\u8133\u6ce2\u306b\u7279\u6709\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u73fe\u308c\u307e\u3059\u3002<strong>BP1-BP3\u6b20\u5931\u4f8b\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u306e\u5236\u5fa1\u304c\u3088\u308a\u96e3\u3057\u3044<\/strong>\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong> \u7761\u7720\u6642\u9593\u304c\u6975\u7aef\u306b\u77ed\u3044\u3001\u4e2d\u9014\u899a\u9192\u304c\u591a\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u3010BP1-BP3\u7279\u6709\u306e\u8ffd\u52a0\u75c7\u72b6\uff08Burnside-Butler\u9818\u57df\u306e\u5f71\u97ff\uff09\u3011<\/strong><\/p>\n\n\n\n<p>BP1-BP2\u9593\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u3001\u4ee5\u4e0b\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ASD\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff09\u306e\u4f75\u767a\u7387\u4e0a\u6607:<\/strong> \u795e\u7d4c\u7d50\u5408\u306b\u95a2\u308f\u308b <em>CYFIP1<\/em> \u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u304c\u5f37\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u306e\u4f4e\u4e0b:<\/strong> Type 2\uff08BP2-BP3\uff09\u3068\u6bd4\u8f03\u3057\u3066\u3001IQ\u304c\u5e73\u5747\u3057\u3066\u6570\u30dd\u30a4\u30f3\u30c8\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\u30fb\u6ce8\u610f\u6b20\u9665:<\/strong> \u96c6\u4e2d\u529b\u306e\u7dad\u6301\u304c\u3088\u308a\u56f0\u96e3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>PWS\/AS\u306e\u8a3a\u65ad\u306f\u3001\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u306e\u78ba\u8a8d\u304c\u5fc5\u9808\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30e1\u30c1\u30eb\u5316\u89e3\u6790 (DNA Methylation Analysis):<br>\u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\u3067\u3059\u300215q11-q13\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u72b6\u614b\u3092\u8abf\u3079\u3001\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e\u3069\u3061\u3089\u304b\u304c\u6b20\u3051\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308aPWS\/AS\u306e\u7d0499%\u304c\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>15q11.2\u9818\u57df\u304c\u5b9f\u969b\u306b\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA):<br>BP1-BP3\u6b20\u5931\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002\u6b20\u5931\u304cBP1\u304b\u3089\u59cb\u307e\u3063\u3066\u3044\u308b\u306e\u304b\uff08Type 1\uff09\u3001BP2\u304b\u3089\u306a\u306e\u304b\uff08Type 2\uff09\u3092\u6b63\u78ba\u306b\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>UBE3A\u907a\u4f1d\u5b50\u5909\u7570\u89e3\u6790:<br>\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u304c\u6b63\u5e38\u3067\u3042\u3063\u3066\u3082\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u5c0f\u306a\u5909\u7570\u3092\u63a2\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u4ecb\u5165\u306b\u3088\u308a\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5287\u7684\u306b\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. PWS\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong> \u4f4e\u8eab\u9577\u306e\u6539\u5584\u3060\u3051\u3067\u306a\u304f\u3001\u7b4b\u529b\u306e\u5411\u4e0a\u3001\u4ee3\u8b1d\u306e\u6539\u5584\uff08\u80a5\u6e80\u9632\u6b62\uff09\u306b\u6975\u3081\u3066\u6709\u52b9\u3067\u3001\u73fe\u5728\u3067\u306f\u6a19\u6e96\u6cbb\u7642\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53b3\u683c\u306a\u98df\u4e8b\u7ba1\u7406:<\/strong> \u7269\u7406\u7684\u306b\u98df\u3079\u7269\u306b\u30a2\u30af\u30bb\u30b9\u3067\u304d\u306a\u3044\u74b0\u5883\u4f5c\u308a\uff08\u9375\u3092\u304b\u3051\u308b\u7b49\uff09\u3068\u3001\u6804\u990a\u58eb\u306b\u3088\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5:<\/strong> \u4e8c\u6b21\u6027\u5fb4\u306e\u8a98\u5c0e\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. AS\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002BP1-BP3\u4f8b\u3067\u306f\u96e3\u6cbb\u6027\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u8907\u6570\u306e\u85ac\u5264\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u8a13\u7df4:<\/strong> \u8a00\u8449\u306e\u4ee3\u308f\u308a\u306b\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08AAC\uff09\u3092\u7528\u3044\u305f\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u8a13\u7df4\u3092\u65e9\u671f\u304b\u3089\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u904b\u52d5\u5931\u8abf\u306b\u5bfe\u3059\u308b\u6b69\u884c\u8a13\u7df4\u3084\u3001\u4f53\u5e79\u3092\u935b\u3048\u308b\u30ea\u30cf\u30d3\u30ea\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. BP1-BP3\u6b20\u5931\u4f8b\u3078\u306e\u8ffd\u52a0\u7684\u914d\u616e<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4\u306e\u5f37\u5316:<\/strong> \u77e5\u7684\u306a\u56f0\u96e3\u304c\u3088\u308a\u5f37\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u3088\u308a\u8a73\u7d30\u306b\u7b56\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7:<\/strong> PWS\u306b\u304a\u3051\u308b\u5f37\u8feb\u75c7\u72b6\u3084\u884c\u52d5\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u5c02\u9580\u533b\u306b\u3088\u308b\u4ecb\u5165\uff08\u884c\u52d5\u7642\u6cd5\u3084\u6295\u85ac\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u9069\u5207\u306a\u4f53\u91cd\u7ba1\u7406\u3084\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u5bff\u547d\u3092\u5168\u3046\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> PWS\/AS\u3068\u3082\u306b\u751f\u6daf\u306b\u308f\u305f\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001PWS\u306e\u65b9\u306f\u30b0\u30eb\u30fc\u30d7\u30db\u30fc\u30e0\u306a\u3069\u3067\u306e\u5c31\u52b4\u652f\u63f4\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002AS\u306e\u65b9\u306f\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u3042\u308b\u305f\u3081\u3001\u3088\u308a\u624b\u539a\u3044\u4ecb\u8b77\u4f53\u5236\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6700\u65b0\u7814\u7a76:<\/strong> \u73fe\u5728\u3001\u6b20\u640d\u3057\u3066\u3044\u308b <em>UBE3A<\/em> \u907a\u4f1d\u5b50\u3092\u6d3b\u6027\u5316\u3055\u305b\u308b\u300c\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\u533b\u85ac\uff08ASO\uff09\u300d\u306a\u3069\u306e\u6cbb\u9a13\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u539f\u56e0\u306b\u5bfe\u3059\u308b\u76f4\u63a5\u7684\u306a\u6cbb\u7642\u304c\u53ef\u80fd\u306b\u306a\u308b\u671f\u5f85\u304c\u9ad8\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Prader-Willi\/Angelman syndrome (BP1-BP3)\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u9818\u57df\u304c\u5e83\u7bc4\u56f2\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u304a\u7236\u3055\u3093\u7531\u6765\u306e\u67d3\u8272\u4f53\u304c\u6b20\u3051\u3066\u3044\u308b\u3068\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08\u904e\u98df\u3084\u4f4e\u8eab\u9577\uff09\u300d\u306b\u3001\u300c\u304a\u6bcd\u3055\u3093\u7531\u6765\u304c\u6b20\u3051\u3066\u3044\u308b\u3068\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\uff09\u300d\u306b\u306a\u308b\u3068\u3044\u3046\u3001\u975e\u5e38\u306b\u4e0d\u601d\u8b70\u306a\u6027\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u4eca\u56de\u306eBP1-BP3\u3068\u3044\u3046\u30bf\u30a4\u30d7\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5c11\u3057\u5e83\u3044\u305f\u3081\u3001\u4e00\u822c\u7684\u306a\u30bf\u30a4\u30d7\u3088\u308a\u3082\u767a\u9054\u3084\u884c\u52d5\u306b\u304a\u3044\u3066\u5c11\u3057\u5f37\u3044\u7279\u6027\u304c\u51fa\u3084\u3059\u3044\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u539f\u56e0\u304c\u8a73\u3057\u304f\u308f\u304b\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u3067\u3001\u65e9\u3044\u6642\u671f\u304b\u3089\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3092\u4f7f\u3063\u305f\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u7df4\u7fd2\u3092\u59cb\u3081\u305f\u308a\u3068\u3001\u304a\u5b50\u69d8\u306b\u5408\u308f\u305b\u305f\u300c\u30aa\u30fc\u30c0\u30fc\u30e1\u30a4\u30c9\u306e\u652f\u63f4\u300d\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u4f55\u304c\u539f\u56e0\u304b\u300d\u304c\u308f\u304b\u308b\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u4eca\u5f8c\u306e\u9053\u306e\u308a\u3092\u7167\u3089\u3059\u5149\u306b\u306a\u308a\u307e\u3059\u3002\u5c02\u9580\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Butler, M. G., et al.<\/strong> (2004). <em>Comparison of phenotype and cell line gene expression in proximal 15q11-q13 deletion type 1 and type 2 Patau-Willi syndrome.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08Type 1\u3068Type 2\u306e\u81e8\u5e8a\u7684\u5dee\u7570\u3092\u5b9a\u7fa9\u3057\u305f\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bittel, D. C., et al.<\/strong> (2006). <em>Comparison of genotype-phenotype correlations in 15q11-q13 duplication, deletion, and uniparental disomy.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08BP1-BP2\u9593\u306e\u907a\u4f1d\u5b50\u7fa4\u304c\u795e\u7d4c\u767a\u9054\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u8a73\u8ff0\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Burnside, R. D., et al.<\/strong> (2011). <em>Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Burnside-Butler\u9818\u57df\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Prader-Willi Syndrome<\/em> \/ <em>Angelman Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cassidy, S. B., &amp; Driscoll, D. J.<\/strong> (2009). <em>Prader-Willi syndrome.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08PWS\u306e\u907a\u4f1d\u5b66\u3068\u81e8\u5e8a\u7ba1\u7406\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>15q11-q13 deletions (Prader-Willi &amp; Angelman syndromes)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sahoo, T., et al.<\/strong> (2006). <em>Prader-Willi phenotype caused by submicroscopic deletions and dislocations.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u306e\u540c\u5b9a\u3068\u81e8\u5e8a\u3078\u306e\u5fdc\u7528\u306b\u95a2\u3059\u308b\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17439","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17439\/revisions"}],"predecessor-version":[{"id":17590,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17439\/revisions\/17590"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}