{"id":6409,"date":"2020-05-11T12:08:47","date_gmt":"2020-05-11T03:08:47","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/?p=6409"},"modified":"2025-02-28T17:18:58","modified_gmt":"2025-02-28T08:18:58","slug":"pgs_ngs_gsd_ts_1","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/pgs_ngs_gsd_ts_1\/","title":{"rendered":"1\u7d30\u80de\u304b\u3089\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u89e3\u6790"},"content":{"rendered":"

\u8fd1\u5e74\u3001\u6669\u5a5a\u5316\u306a\u3069\u306b\u4f34\u3044\u3001\u81ea\u7136\u598a\u5a20\u304c\u96e3\u3057\u3044\u30ab\u30c3\u30d7\u30eb\u304c\u4e0d\u598a\u6cbb\u7642\u3092\u884c\u3046\u4f8b\u304c\u5e74\u3005\u5897\u52a0\u3057\u3066\u3044\u308b\u4e00\u65b9\u3067\u3001\u6bcd\u4f53\u306e\u5e74\u9f62\u3068\u6d41\u7523\u7387\u306f\u76f8\u95a2\u3057\u3001\u80da\u306e\u7740\u5e8a\u7387\u306f\u9006\u76f8\u95a2\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u3053\u3067\u3001\u4f53\u5916\u53d7\u7cbe\u306b\u3088\u3063\u3066\u5f97\u3089\u308c\u305f\u80da\u306e\u4e00\u90e8\u3092\u63a1\u53d6\u3057\u3066\u3001\u3042\u3089\u304b\u3058\u3081\u80da\u306e\u67d3\u8272\u4f53\u306e\u7570\u5e38\u306a\u3069\u3092\u89e3\u6790\u3057\u3001\u7740\u5e8a\u7387\u306e\u6539\u5584\u3092\u76ee\u6307\u3059\u7814\u7a76\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002
\n\u4eca\u56de\u306f\u3001Ion Torrent\u2122 \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\uff08NGS\uff09\u3092\u7528\u3044\u305f\u80da\u306e\u7570\u6570\u6027\u89e3\u6790\u3064\u3044\u3066\u3001\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n

\u80da\u306e\u67d3\u8272\u4f53\u89e3\u6790<\/h2>\n

\u4e00\u822c\u7684\u306b\u30d2\u30c8\u306f2\u500d\u4f53\u3067\u3042\u308a\u300122\u5bfe\u306e\u5e38\u67d3\u8272\u4f53\u3068\u3001\u5973\u6027\u306a\u3089\u3070X\u67d3\u8272\u4f53\u304c2\u672c\u3001\u7537\u6027\u306a\u3089\u3070X\u67d3\u8272\u4f53\u3068Y\u67d3\u8272\u4f53\u304c1\u672c\u305a\u3064\u306e\u8a0846\u672c\u306e\u67d3\u8272\u4f53\u3092\u6301\u3064\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u914d\u5076\u5b50\u5f62\u6210\u306e\u969b\u306b\u6e1b\u6570\u5206\u88c2\u306b\u3088\u3063\u30661\u500d\u4f53\u306e\u5375\u5b50\u307e\u305f\u306f\u7cbe\u5b50\u3092\u5f62\u6210\u3057\u3001\u3053\u308c\u3089\u306e\u914d\u5076\u5b50\u304c\u53d7\u7cbe\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u518d\u30732\u500d\u4f53\u3068\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u904e\u7a0b\u3067\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u307e\u305f\u306f\u5168\u4f53\u306b\u7570\u5e38\uff08\u7570\u6570\u6027\u3084\u69cb\u9020\u7570\u5e38\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3092\u6709\u3059\u308b\u80da\u306e\u591a\u304f\u306f\u3001\u767a\u751f\u521d\u671f\u306b\u304a\u3044\u3066\u6b63\u5e38\u306a\u767a\u751f\u304c\u6b62\u307e\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4e00\u90e8\u306e\u80da\u306f\u67d3\u8272\u4f53\u306e\u7570\u6570\u6027\u3092\u4f34\u3044\u306a\u304c\u3089\u767a\u751f\u3057\u3001\u30c0\u30a6\u30f3\u75c7\uff0821\u756a\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3001\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\uff08X\u67d3\u8272\u4f53\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u3001\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff0818\u756a\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3001\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4\uff08XXY\uff09\u3001Triple-X\u75c7\u5019\u7fa4\uff08XXX\uff09\u3068\u3044\u3063\u305f\u6838\u578b\u3092\u6709\u3059\u308b\u75be\u60a3\u3092\u767a\u75c7\u3057\u307e\u3059*1<\/sup>\u3002<\/p>\n

\u67d3\u8272\u4f53\u7570\u5e38\u304c\u767a\u751f\u3059\u308b\u8a73\u7d30\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u672a\u3060\u660e\u3089\u304b\u306b\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3044\u304f\u3064\u304b\u306e\u7814\u7a76\u306b\u304a\u3044\u3066\u3001\u305d\u306e\u539f\u56e0\u306b\u306f\u907a\u4f1d\u7684\u306a\u67d3\u8272\u4f53\u306e\u7279\u5fb4\u3084\u89aa\u3068\u306a\u308b\u500b\u4f53\u306e\u5e74\u9f62\u304c\u5927\u304d\u304f\u5f71\u97ff\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059*2<\/sup>\u3002<\/p>\n

\u3053\u308c\u307e\u3067\u306b\u3001\u80da\u306e\u7740\u5e8a\u4e0d\u5168\u3084\u6d41\u7523\u306e\u8981\u56e0\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u305f\u3081\u306b\u3001Fluorescent in situ hybridization\uff08FISH\uff09\u3084G-band\u89e3\u6790\u3001array comparative genome hybridization\uff08aCGH\uff09\u306a\u3069\u3068\u3044\u3063\u305f\u624b\u6cd5\u3092\u7528\u3044\u305f\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7570\u5e38\u3084\u7570\u6570\u6027\u3092\u89e3\u6790\u3059\u308b\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u89e3\u6790\u53ef\u80fd\u306a\u30b2\u30ce\u30e0\u9818\u57df\u3084\u30b5\u30f3\u30d7\u30eb\u306e\u521d\u671f\u91cf\u306a\u3069\u3068\u3044\u3063\u305f\u30cf\u30fc\u30c9\u30eb\u3082\u9ad8\u304f\u3001\u89e3\u6790\u306b\u304b\u304b\u308b\u8cbb\u7528\u3084\u6642\u9593\u3082\u554f\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n

\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3092\u7528\u3044\u305f1\u7d30\u80de\u304b\u3089\u306e\u7570\u6570\u6027\u89e3\u6790<\/h2>\n

\u8fd1\u5e74\u3001\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u7814\u7a76\u304c\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u306b\u3088\u308b\u80da\u306e\u7570\u6570\u6027\u89e3\u6790\u3067\u3059\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3092\u7528\u3044\u308c\u3070\u3001\u8fc5\u901f\u304b\u3064\u6b63\u78ba\u306b\u7570\u6570\u6027\u3092\u6709\u3059\u308b\u67d3\u8272\u4f53\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n

\u30aa\u30c3\u30af\u30b9\u30d5\u30a9\u30fc\u30c9\u5927\u5b66\u306eDagan Wells\u6c0f\u3089\u306f\u3001Ion Torrent\u2122 \u30b7\u30b9\u30c6\u30e0\u3092\u4f7f\u7528\u3057\u306661\u691c\u4f53\u306e\u5358\u4e00\u7d30\u80de\u30b5\u30f3\u30d7\u30eb\u306e\u7570\u6570\u6027\u3092\u89e3\u6790\u3057\u307e\u3057\u305f\u30026\u691c\u4f53\u306f\u7d30\u80de\u682a\u7531\u6765\u300138\u691c\u4f53\u306f32\u306e\u80da\u76e4\u80de\u7531\u6765\u306e\u7d30\u80de\u3092\u542b\u3080\u30b5\u30f3\u30d7\u30eb\u3067\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u80da\u76e4\u80de\u7531\u6765\u306e\u30b5\u30f3\u30d7\u30eb\u30921\u5ea6\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u89e3\u6790\u3057\u305f\u3068\u3053\u308d\u3001\u691c\u4f53\u306e\u67d3\u8272\u4f53\u7570\u5e38\u309215\u6642\u9593\u672a\u6e80\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002\u307e\u305f\u3001\u5f7c\u3089\u306e\u89e3\u6790\u306f\u975e\u5e38\u306b\u611f\u5ea6\u3084\u7279\u7570\u6027\u304c\u9ad8\u304f\u3001aCGH\u306e\u7d50\u679c\u3068\u306e\u6bd4\u8f03\u3067\u306f\u3001\u4e00\u81f4\u7387\u306f99.7%\u3067\u3057\u305f\u3002\u3055\u3089\u306b\u5f7c\u3089\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\uff08mtDNA\uff09\u306e\u91cf\u304c\u5897\u52a0\u3057\u305f\u80da\u306f\u67d3\u8272\u4f53\u7570\u5e38\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3001\u3068\u3044\u3046\u80da\u306e\u7570\u6570\u6027\u3068mtDNA\u3068\u306e\u95a2\u9023\u304c\u660e\u3089\u304b\u3068\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n

\u307e\u305f\u3001\u5f53\u793e\u306b\u304a\u3044\u3066\u6b63\u5e38\u306a\u6838\u578b\u3092\u6301\u306410\u30b5\u30f3\u30d7\u30eb\u3068\u65e2\u77e5\u306e\u7570\u6570\u6027\u3092\u6301\u306410\u30b5\u30f3\u30d7\u30eb\u3092Ion Torrent \u30b7\u30b9\u30c6\u30e0\u3067\u30b7\u30fc\u30b1\u30f3\u30b9\u3057\u3001Ion Reporter\u2122 \u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3067\u89e3\u6790\u3057\u305f\u3068\u3053\u308d\u3001x0.01\u306e\u30ab\u30d0\u30ec\u30c3\u30b8\u30c7\u30d7\u30b9\u306e\u30c7\u30fc\u30bf\u306b\u304a\u3044\u3066\u30013\u756a\u67d3\u8272\u4f53\u306e18Mb\u306e\u6b20\u5931\u3092\u542b\u3080\u300128\u3059\u3079\u3066\u306e\u7570\u6570\u6027\u3092\u691c\u51fa\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u7d50\u679c\u306faCGH\u306e\u7d50\u679c\u3068\u3082100%\u4e00\u81f4\u3057\u307e\u3057\u305f\u3002<\/p>\n

\u3053\u306e\u3088\u3046\u306b\u5c11\u6570\u306e\u7d30\u80de\u7531\u6765\u306e\u30b2\u30ce\u30e0DNA\u3092\u7528\u3044\u305fIon Torrent \u30b7\u30b9\u30c6\u30e0\u3068Ion Reporter\u2122\u306b\u3088\u308b\u89e3\u6790\u306f\u3001\u80da\u306e\u7570\u6570\u6027\u3084\u67d3\u8272\u4f53\u4ee5\u5916\u306e\u4e8b\u8c61\u306b\u304a\u3044\u3066\u3082\u8fc5\u901f\u304b\u3064\u6b63\u78ba\u306b\u691c\u51fa\u3059\u308b\u306b\u3042\u305f\u3063\u3066\u3001\u5341\u5206\u306a\u611f\u5ea6\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u5b9f\u8a3c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

Ion Torrent \u30b7\u30b9\u30c6\u30e0\u306e\u30b9\u30d4\u30fc\u30c9<\/h2>\n

\u901a\u5e38\u4e0d\u598a\u6cbb\u7642\u306b\u304a\u3044\u3066\u30011\u30b5\u30a4\u30af\u30eb\u30676\uff5e10\u500b\u306e\u80da\u304c\u5f97\u3089\u308c\u307e\u3059\u3002\u80da\u3092\u7528\u3044\u305f\u7740\u5e8a\u524d\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u80da\u304b\u3089\u53d6\u308a\u51fa\u3057\u305f\u7d30\u80de\u3092\u4f7f\u7528\u3057\u3066\u3001\u598a\u5a20\u306e\u6210\u529f\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u80da\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u80da\u3092\u6bcd\u4f53\u306b\u623b\u3059\u30bf\u30a4\u30df\u30f3\u30b0\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3042\u308a\u300124\u6642\u9593\u4ee5\u5185\u306b23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u5305\u62ec\u7684\u306a\u89e3\u6790\u7d50\u679c\u3092\u5f97\u308b\u3053\u3068\u304c\u671b\u307e\u308c\u307e\u3059\u3002Ion Torrent \u30b7\u30b9\u30c6\u30e0\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u89e3\u6790\u306f\u7d0410\uff5e13\u6642\u9593\u4ee5\u5185\u306b\u8907\u6570\u306e\u30b5\u30f3\u30d7\u30eb\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u5305\u62ec\u7684\u306a\u89e3\u6790\u7d50\u679c\u304c1\u56de\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u5f97\u3089\u308c\u307e\u3059\u3002
\n\"\"<\/p>\n

\u307e\u3068\u3081<\/h2>\n

\u30fb\u4e0d\u598a\u6cbb\u7642\u306e\u904e\u7a0b\u306b\u304a\u3044\u3066\u3001\u80da\u306e\u7570\u6570\u6027\u89e3\u6790\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002
\n\u30fbIon Torrent \u30b7\u30b9\u30c6\u30e0\u306a\u3089\u5c11\u6570\u306e\u7d30\u80de\u7531\u6765\u306e\u30b2\u30ce\u30e0DNA\u3092\u7528\u3044\u3066\u80da\u306e\u7570\u6570\u6027\u3092\u8fc5\u901f\u306b\u89e3\u6790\u53ef\u80fd\u3067\u3059\u3002
\n\u30fb\u80da\u306e\u7570\u6570\u6027\u89e3\u6790\u306b\u3054\u8208\u5473\u304c\u3042\u308b\u65b9\u306fIon Torrent\u2122 ReproSeq\u2122 PGS Kit<\/a>\u3092\u3054\u691c\u8a0e\u304f\u3060\u3055\u3044\u3002<\/p>\n

\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\uff08NGS\uff09\u5165\u9580<\/h2>\n

\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u539f\u7406\u3084\u4f55\u304c\u3067\u304d\u308b\u304b\u304c\u3088\u304f\u308f\u304b\u3089\u306a\u3044\u3001\u307e\u305f\u306f\u81ea\u5206\u306e\u7814\u7a76\u9818\u57df\u306b\u3069\u306e\u3088\u3046\u306b\u6d3b\u7528\u3067\u304d\u308b\u304b\u308f\u304b\u3089\u306a\u3044\u3068\u3044\u3046\u65b9\u5411\u3051\u306b\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u57fa\u672c\u3084\u5404\u7814\u7a76\u9818\u57df\u306b\u7279\u5316\u3057\u305f\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u30ea\u30f3\u30af\u5148\u304b\u3089\u3001\u305d\u308c\u305e\u308c\u306e\u9818\u57df\u306b\u5fdc\u3058\u305f\u30da\u30fc\u30b8\u3092\u3054\u89a7\u3044\u305f\u3060\u3051\u307e\u3059\u3002<\/p>\n

\u8a73\u7d30\u3092\u898b\u308b<\/a><\/p>\n

\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9 \u30c7\u30fc\u30bf\u89e3\u6790\u30aa\u30f3\u30e9\u30a4\u30f3\u500b\u5225\u76f8\u8ac7<\/h2>\n

IonTorrent\u30e6\u30fc\u30b6\u3067\u30c7\u30fc\u30bf\u89e3\u6790\u306b\u95a2\u3059\u308b\u5177\u4f53\u7684\u306a\u8ab2\u984c\u3092\u304a\u6301\u3061\u306e\u65b9\u306b\u306f\u3001\u7121\u6599\u306e\u500b\u5225\u76f8\u8ac7\u306e\u6642\u9593\u3092\u958b\u8a2d\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u8a73\u7d30\u3092\u898b\u308b<\/a><\/p>\n

\u53c2\u8003\u6587\u732e<\/strong>
\n*1, Ganmore I, Smooha G, Izraeli S. (2009) Constitutional aneuploidy and cancer predisposition. Hum Mol Genet. 18(R1):R84-93.<\/p>\n

*2, Rubio C, Rodrigo L, Garcia-Pascual C, Peinado V, Campos-Galindo I, Garcia-Herrero S, Sim\u00f3n C. (2019) Clinical application of embryo aneuploidy testing by next-generation sequencing. Biol Reprod.101(6):1083-1090.<\/p>\n

For Research Use Only. Not for use in diagnostic procedures.<\/strong>
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