{"id":17481,"date":"2026-01-22T05:52:34","date_gmt":"2026-01-22T05:52:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17481"},"modified":"2026-01-22T05:53:56","modified_gmt":"2026-01-22T05:53:56","slug":"triphalangeal-thumb-polysyndactylytpt-ps-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/triphalangeal-thumb-polysyndactylytpt-ps-syndrome\/","title":{"rendered":"Triphalangeal thumb-polysyndactyly(TPT-PS) syndrome"},"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>TPTPS<\/strong><\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\u3092\u4f34\u3046\u591a\u5408\u6307\u75c7\uff08Polysyndactyly with triphalangeal thumb\uff09<\/strong><\/li>\n\n\n\n<li><strong>Preaxial polydactyly type 2 (PPD2)<\/strong>\uff08\u8ef8\u524d\u6027\u591a\u6307\u75c7 2\u578b\uff09<\/li>\n\n\n\n<li><strong>Werner mesomelic syndrome<\/strong>\uff08\u30ef\u30fc\u30ca\u30fc\u30fb\u30e1\u30bd\u30e1\u30ea\u30c3\u30af\u75c7\u5019\u7fa4\uff1a\u3088\u308a\u91cd\u75c7\u306a\u95a2\u9023\u75be\u60a3\uff09<\/li>\n\n\n\n<li><strong>7q36.3\u5fae\u5c0f\u91cd\u8907\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>7\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0936.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>TPT-PS\u75c7\u5019\u7fa4\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u4ed8\u8fd1\uff087q36.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u3001\u56db\u80a2\u5f62\u6210\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u5236\u5fa1\u9818\u57df\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u9375\u3068\u306a\u308b\u306e\u306f\u3001SHH\uff08\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff09\u907a\u4f1d\u5b50\u3068\u305d\u306e\u9060\u9694\u5236\u5fa1\u9818\u57df\u3067\u3042\u308b ZRS\uff08Zone of Polarizing Activity Regulatory Sequence\uff09 \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHH\u907a\u4f1d\u5b50:<\/strong> \u80da\u767a\u751f\u671f\u306b\u304a\u3044\u3066\u3001\u624b\u8db3\u306e\u300c\u524d\u5f8c\u8ef8\uff08\u89aa\u6307\u5074\u304b\u5c0f\u6307\u5074\u304b\uff09\u300d\u3092\u6c7a\u5b9a\u3059\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u901a\u5e38\u3001SHH\u306f\u5c06\u6765\u306e\u5c0f\u6307\u5074\uff08\u5f8c\u8ef8\u5074\uff09\u3067\u306e\u307f\u50cd\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ZRS\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc:<\/strong> SHH\u907a\u4f1d\u5b50\u304b\u3089\u7d041Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u96e2\u308c\u305f <em>LMBR1<\/em> \u907a\u4f1d\u5b50\u306e\u5185\u90e8\u306b\u5b58\u5728\u3057\u3001SHH\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u30fb\u5909\u7570\u306e\u5f71\u97ff:<\/strong> 7q36.3\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u3001\u3042\u308b\u3044\u306fZRS\u9818\u57df\u5185\u306e\u70b9\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u672c\u6765SHH\u304c\u50cd\u3044\u3066\u306f\u3044\u3051\u306a\u3044\u300c\u5c06\u6765\u306e\u89aa\u6307\u5074\uff08\u524d\u8ef8\u5074\uff09\u300d\u3067\u3082SHH\u304c\u904e\u5270\u306b\u767a\u73fe\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7570\u6240\u6027\u767a\u73fe\u306e\u7d50\u679c:<\/strong> \u672c\u6765\u306f\u89aa\u6307\u306b\u306a\u308b\u306f\u305a\u306e\u5834\u6240\u304c\u300c\u4eba\u5dee\u3057\u6307\u300d\u3084\u300c\u5c0f\u6307\u300d\u306e\u3088\u3046\u306a\u6027\u8cea\u3092\u6301\u3063\u3066\u6210\u9577\u3057\u3066\u3057\u307e\u3044\u3001\u7bc0\u304c\u5897\u3048\u305f\u308a\uff08\u4e09\u7bc0\u6bcd\u6307\uff09\u3001\u6307\u304c\u4f59\u5206\u306b\u4f5c\u3089\u308c\u305f\u308a\uff08\u591a\u6307\uff09\u3059\u308b\u8868\u73fe\u578b\u304c\u73fe\u308c\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>\u51fa\u751f\u5150 25,000\u4eba \u301c 50,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u5b64\u767a\u4f8b\uff08\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u30b1\u30fc\u30b9\uff09\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u5bb6\u7cfb\u5185\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u7a2e\u5dee:<\/strong> \u7279\u5b9a\u306e\u4eba\u7a2e\u306b\u504f\u308b\u3053\u3068\u306a\u304f\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u5358\u7d14\u306a\u591a\u6307\u75c7\u3068\u3057\u3066\u898b\u904e\u3054\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u89aa\u6307\u306e\u5f62\u614b\u3092\u8a73\u7d30\u306b\u89b3\u5bdf\u3059\u308b\u3053\u3068\u3067\u3001\u672c\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u8a3a\u65ad\u304c\u3064\u304f\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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>TPT-PS\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u305d\u306e\u540d\u306e\u901a\u308a\u300c\u4e09\u7bc0\u6bcd\u6307\u300d\u300c\u591a\u6307\u75c7\u300d\u300c\u5408\u6307\u75c7\u300d\u306e3\u3064\u304c\u8907\u96d1\u306b\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e09\u7bc0\u6bcd\u6307\uff08Triphalangeal Thumb: TPT\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u4eba\u9593\u306e\u89aa\u6307\u306f\u300c\u57fa\u7bc0\u9aa8\u300d\u3068\u300c\u672b\u7bc0\u9aa8\u300d\u306e2\u3064\u306e\u9aa8\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u306f\u305d\u306e\u9593\u306b\u300c\u4e2d\u7bc0\u9aa8\u300d\u304c\u5b58\u5728\u3057\u3001\u4ed6\u306e\u6307\uff08\u4eba\u5dee\u3057\u6307\u306a\u3069\uff09\u3068\u540c\u69d8\u306b3\u3064\u306e\u9aa8\u3067\u69cb\u6210\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f62\u614b:<\/strong> \u89aa\u6307\u304c\u4ed6\u306e\u6307\u306e\u3088\u3046\u306b\u9577\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6a5f\u80fd:<\/strong> \u89aa\u6307\u3068\u3057\u3066\u306e\u5bfe\u5411\u52d5\u4f5c\uff08\u4ed6\u306e\u6307\u3068\u5411\u304b\u3044\u5408\u308f\u305b\u308b\u52d5\u304d\uff09\u304c\u3057\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u5f62:<\/strong> \u4f59\u5206\u306a\u9aa8\u304c\u300c\u6954\u72b6\uff08\u304f\u3055\u3073\u578b\uff09\u300d\u3067\u3042\u308b\u5834\u5408\u3001\u89aa\u6307\u304c\u6a2a\u306b\u66f2\u304c\u3063\u3066\u3057\u307e\u3046\u300c\u6307\u66f2\u304c\u308a\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u591a\u6307\u75c7\uff08Polydactyly\uff09<\/strong><\/p>\n\n\n\n<p>\u6307\u306e\u6570\u304c\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ef8\u524d\u6027\u591a\u6307\u75c7:<\/strong> \u89aa\u6307\u5074\u306b\u4f59\u5206\u306a\u6307\u304c\u4f5c\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u4e09\u7bc0\u6bcd\u6307\u3068\u5408\u4f53\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u93e1\u50cf\u624b\uff08Mirror Hand\uff09\u69d8:<\/strong> \u975e\u5e38\u306b\u91cd\u75c7\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001\u89aa\u6307\u304c\u6d88\u5931\u3057\u3001\u5c0f\u6307\u5074\u306e\u3088\u3046\u306a\u6307\u304c\u5de6\u53f3\u5bfe\u79f0\u306b\u4e26\u3076\u3001\u93e1\u50cf\u306b\u8fd1\u3044\u5f62\u614b\u3092\u5448\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u6307\u75c7\uff08Syndactyly\uff09<\/strong><\/p>\n\n\n\n<p>\u96a3\u308a\u5408\u3046\u6307\u540c\u58eb\u304c\u76ae\u819a\u3084\u9aa8\u3067\u7652\u5408\uff08\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff09\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u624b\u3060\u3051\u3067\u306a\u304f\u3001\u8db3\u306e\u6307\uff08\u7279\u306b\u7b2c1\u8dbe\u301c\u7b2c3\u8dbe\u4ed8\u8fd1\uff09\u306b\u3082\u5408\u6307\u3084\u591a\u8dbe\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u56db\u80a2\u672b\u7aef\u4ee5\u5916\u306e\u75c7\u72b6\uff08\u975e\u75c7\u5019\u7fa4\u6027\u3068\u3057\u3066\u306e\u7279\u5fb4\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u77e5\u80fd\u3084\u5185\u81d3\u3078\u306e\u5f71\u97ff\u306f\u306a\u3044\u300c\u975e\u75c7\u5019\u7fa4\u6027\u300d\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ef\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023:<\/strong> \u91cd\u8907\u7bc4\u56f2\u304c\u3088\u308a\u5e83\u3044\u5834\u5408\u3001\u524d\u8155\u306e\u9aa8\uff08\u6a48\u9aa8\uff09\u306e\u6b20\u640d\u3084\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u300c\u30ef\u30fc\u30ca\u30fc\u30fb\u30e1\u30bd\u30e1\u30ea\u30c3\u30af\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6ce8\u610f\u6df1\u3044\u5168\u8eab\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\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>7q36.3\u9818\u57df\u306eZRS\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u306e\u5fae\u5c0f\u91cd\u8907\u307e\u305f\u306f\u70b9\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u540c\u3058\u5bb6\u65cf\u5185\uff08\u540c\u3058\u907a\u4f1d\u5b50\u7570\u5e38\uff09\u3067\u3042\u3063\u3066\u3082\u3001\u89aa\u306f\u300c\u89aa\u6307\u304c\u5c11\u3057\u9577\u3044\u3060\u3051\u300d\u3001\u5b50\u306f\u300c\u6307\u304c7\u672c\u3042\u308b\u91cd\u5ea6\u306e\u591a\u5408\u6307\u300d\u3068\u3044\u3063\u305f\u5177\u5408\u306b\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u5927\u304d\u306a\u5e45\uff08\u8868\u73fe\u5ea6\u306e\u5dee\uff09\u304c\u3042\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u7cfb\u5185\u306b\u8ab0\u3082\u540c\u3058\u75c7\u72b6\u304c\u3044\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067ZRS\u9818\u57df\u306b\u5076\u7136<strong>\u5fae\u5c0f<\/strong>\u306a\u91cd\u8907\u3084\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u306e\u8eab\u4f53\u8a3a\u5bdf\u304a\u3088\u3073\u653e\u5c04\u7dda\u691c\u67fb\u306b\u3088\u3063\u3066\u81e8\u5e8a\u7684\u306b\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X\u7dda\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u6307\u306e\u9aa8\u306e\u6570\u3092\u6570\u3048\u3001\u4e2d\u7bc0\u9aa8\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u591a\u6307\u306e\u9aa8\u69cb\u9020\u3084\u5408\u6307\u306e\u7a0b\u5ea6\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>7q36.3\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u8fd1\u5e74\u3067\u306f\u3053\u308c\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e3b\u6d41\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306b\u3088\u308b\u30d1\u30cd\u30eb\u89e3\u6790:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001ZRS\u9818\u57df\u5185\u306e\u308f\u305a\u304b1\u5869\u57fa\u306e\u66f8\u304d\u63db\u3048\uff08\u70b9\u5909\u7570\uff09\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6307\u306e\u6570\u3084\u5f62\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u6a5f\u80fd\u7684\u306a\u624b\u306e\u7372\u5f97\u300d\u3068\u300c\u5916\u898b\u306e\u6574\u5bb9\u300d\u3067\u3059\u3002\u6574\u5f62\u5916\u79d1\uff08\u624b\u306e\u624b\u8853\u5c02\u9580\u533b\uff09\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u8a08\u753b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u624b\u8853<\/strong><\/p>\n\n\n\n<p>\u624b\u8853\u306e\u5185\u5bb9\u306f\u500b\u3005\u306e\u5909\u5f62\u306e\u5ea6\u5408\u3044\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u901a\u5e38\u30011\u6b73\u9803\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306b\u6bb5\u968e\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f59\u5270\u6307\u306e\u5207\u9664\u8853:<\/strong> \u6a5f\u80fd\u7684\u306b\u52a3\u308b\u65b9\u306e\u6307\u3092\u5207\u9664\u3057\u3001\u6b8b\u3057\u305f\u6307\u306e\u8ef8\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u5206\u96e2\u8853:<\/strong> \u304f\u3063\u3064\u3044\u3066\u3044\u308b\u6307\u3092\u5207\u308a\u96e2\u3057\u3001\u6307\u306e\u9593\u306e\u6c34\u304b\u304d\u90e8\u5206\u3092\u5f62\u6210\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\u306e\u77ed\u7e2e\u30fb\u5f62\u6210\u8853:<\/strong> \u4f59\u5206\u306a\u4e2d\u7bc0\u9aa8\u3092\u53d6\u308a\u9664\u3044\u305f\u308a\u3001\u9577\u3059\u304e\u308b\u89aa\u6307\u3092\u77ed\u304f\u3057\u3066\u3001\u4ed6\u306e\u6307\u3068\u5411\u304b\u3044\u5408\u308f\u305b\u3084\u3059\u304f\uff08\u5bfe\u5411\u52d5\u4f5c\u3092\u3057\u3084\u3059\u304f\uff09\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bcd\u6307\u5316\u624b\u8853:<\/strong> \u89aa\u6307\u306e\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u3044\u5834\u5408\u3001\u4eba\u5dee\u3057\u6307\u3092\u89aa\u6307\u306e\u4f4d\u7f6e\u3078\u79fb\u52d5\u3055\u305b\u3066\u3001\u65b0\u3057\u3044\u89aa\u6307\u3092\u4f5c\u308b\u624b\u8853\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u4f5c\u696d\u7642\u6cd5\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u624b\u8853\u5f8c\u3001\u65b0\u3057\u3044\u6307\u306e\u5f62\u306b\u5408\u308f\u305b\u3066\u3001\u7269\u3092\u63b4\u3080\u3001\u3064\u307e\u3080\u3001\u66f8\u304f\u3068\u3044\u3063\u305f\u52d5\u4f5c\u3092\u7fd2\u5f97\u3059\u308b\u305f\u3081\u306e\u8a13\u7df4\uff08\u4f5c\u696d\u7642\u6cd5\uff1aOT\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u5f62\u306f\u5b50\u4f9b\u306e\u81ea\u5c0a\u5fc3\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u4eba\u3084\u5bb6\u65cf\u304c\u75be\u60a3\u3092\u80af\u5b9a\u7684\u306b\u6349\u3048\u3089\u308c\u308b\u3088\u3046\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3084\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u306e\u9023\u643a\u304c\u63a8\u5968\u3055\u308c\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>\u6a5f\u80fd\u7684\u4e88\u5f8c:<\/strong> \u73fe\u4ee3\u306e\u512a\u308c\u305f\u5916\u79d1\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u306b\u3088\u308a\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u304c\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u306e\u306a\u3044\u624b\u306e\u6a5f\u80fd\u3092\u7372\u5f97\u3067\u304d\u307e\u3059\u3002\u7d30\u304b\u3044\u4f5c\u696d\u3092\u5fc5\u8981\u3068\u3059\u308b\u8077\u696d\u306b\u5c31\u304f\u3053\u3068\u3082\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u30fb\u5168\u8eab\u4e88\u5f8c:<\/strong> \u77e5\u80fd\u3084\u5bff\u547d\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6b21\u4e16\u4ee3\u3078\u306e\u5f71\u97ff:<\/strong> \u9855\u6027\u907a\u4f1d\u3067\u3042\u308b\u305f\u3081\u3001\u672c\u4eba\u304c\u5c06\u6765\u5b50\u4f9b\u3092\u6301\u3064\u969b\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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>Triphalangeal thumb-polysyndactyly (TPTPS) syndrome\u306f\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300c\u6307\u306e\u6570\u3068\u5f62\u3092\u6c7a\u3081\u308b\u30b9\u30a4\u30c3\u30c1\u300d\u304c\u3001\u80ce\u5150\u671f\u306b\u5c11\u3057\u3060\u3051\u904e\u5270\u306b\u50cd\u3044\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u91cd\u8907\u3084\u5909\u7570\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u89aa\u6307\u306e\u9aa8\u304c1\u3064\u591a\u3044\u300d\u300c\u6307\u306e\u6570\u304c\u591a\u3044\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u304a\u5b50\u69d8\u304c\u6301\u3064\u300c\u65b0\u3057\u3044\u500b\u6027\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u6574\u5f62\u5916\u79d1\u306e\u624b\u8853\u6280\u8853\u304c\u975e\u5e38\u306b\u9032\u6b69\u3057\u3066\u304a\u308a\u30011\u6b73\u3092\u904e\u304e\u305f\u9803\u304b\u3089\u9069\u5207\u306a\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u4f55\u4e0d\u81ea\u7531\u306a\u304f\u4f7f\u3048\u308b\u3001\u6574\u3063\u305f\u5f62\u306e\u624b\u3092\u7372\u5f97\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u80fd\u3084\u5185\u81d3\u3078\u306e\u5f71\u97ff\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u3092\u4e57\u308a\u8d8a\u3048\u308c\u3070\u3001\u304a\u5b50\u69d8\u306f\u7121\u9650\u306e\u53ef\u80fd\u6027\u3092\u6301\u3063\u3066\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u304c\u305d\u306e\u624b\u3067\u7d20\u6674\u3089\u3057\u3044\u672a\u6765\u3092\u63b4\u307f\u53d6\u308c\u308b\u3088\u3046\u3001\u6e29\u304b\u304f\u652f\u3048\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>Lettice, L. A., et al.<\/strong> (2003). <em>A long-range Shh enhancer regulates expression in the developing limb and sites of muscular dystrophy.<\/em> Proceedings of the National Academy of Sciences (PNAS).\n<ul class=\"wp-block-list\">\n<li>\uff08ZRS\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u304cSHH\u907a\u4f1d\u5b50\u3092\u5236\u5fa1\u3057\u3001\u80a2\u82bd\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>VanderMeer, J. E., et al.<\/strong> (2012). <em>Triphalangeal thumb-polysyndactyly syndrome and Werner mesomelic syndrome are caused by distinct genomic mechanisms affecting the same ZRS enhancer.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08TPT-PS\u3068\u30ef\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u304c\u540c\u3058ZRS\u9818\u57df\u306e\u7570\u306a\u308b\u7570\u5e38\u3067\u8d77\u3053\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sun, M., et al.<\/strong> (2002). <em>A genome-wide scan in a large family with triphalangeal thumb-polysyndactyly syndrome maps the locus to chromosome 7q36.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08TPT-PS\u306e\u5bb6\u7cfb\u89e3\u6790\u304b\u3089\u539f\u56e0\u9818\u57df\u30927q36\u306b\u7279\u5b9a\u3057\u305f\u521d\u671f\u306e\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SHH-Related Polydactyly<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08SHH\u304a\u3088\u3073ZRS\u95a2\u9023\u306e\u591a\u6307\u75c7\u306b\u95a2\u3059\u308b\u8a3a\u65ad\u30fb\u7ba1\u7406\u306e\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>7q36 microduplications including TPTPS<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Al-Qattan, M. M., et al.<\/strong> (2014). <em>The triphalangeal thumb-polysyndactyly syndrome (TPTPS): Genetics and clinical phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08TPT-PS\u306e\u907a\u4f1d\u5b66\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\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-17481","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\/17481","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17481\/revisions"}],"predecessor-version":[{"id":17484,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17481\/revisions\/17484"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17481"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}