{"id":46788,"date":"2021-10-15T13:34:19","date_gmt":"2021-10-15T04:34:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/"},"modified":"2025-10-16T11:26:46","modified_gmt":"2025-10-16T02:26:46","slug":"2p16-3p21","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans","title":{"rendered":"\u6797\u5947\u7efc\u5408\u75c7\u7684\u539f\u56e0\u662f\u67d3\u8272\u4f532p16.3\u2010p21\u4e0a\u7684\u76f8\u90bb\u57fa\u56e0\u7f3a\u5931"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>Erin E. Salo-Mullen, MS, MPH, CGC, Patricio B. Lynn, MD, Lu Wang, MD, PhD, Michael Walsh, MD,Anuradha Gopalan, MD, Jinru Shia, MD,Christina Tran, BS, Fung Ying Man, MD, MSc,Sean McBride, MD, MPH, Mark Schattner, MD,Liying Zhang, MD, PhD,Martin R. Weiser, MD,and Zsofia K. Stadler, MD<\/p>\n\n\n\n<p>\u533b\u5b66\u90e8\u3001\u65af\u9686-\u51ef\u7279\u7433\u764c\u75c7\u7eaa\u5ff5\u4e2d\u5fc3\u30011275York Average\u3001\u7ebd\u7ea6\u3001\u7ebd\u7ea6\u300110065<br>\u624b\u672f\u3001\u65af\u9686-\u51ef\u7279\u7433\u764c\u75c7\u7eaa\u5ff5\u4e2d\u5fc3\u30011275York Average\u3001\u7ebd\u7ea6\u3001\u7ebd\u7ea6\u300110065<br>\u75c5\u7406\u5b66\u3001\u65af\u9686-\u51ef\u7279\u7433\u764c\u75c7\u7eaa\u5ff5\u4e2d\u5fc3\u30011275York Average\u3001\u7ebd\u7ea6\u3001\u7ebd\u7ea6\u300110065<br>Radiation Oncology, Memorial Sloan Kettering Cancer Center, 1275 York Ave., New York, NY 10065<br>Weill Cornell Medical College, 1300 York Ave, New York, NY 10065 \u533b\u5b66\u90e8 \u624b\u672f\u3001Weill Cornell Medical College, 1300 York Ave, New York, NY 10065<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans\/#%E8%A6%81%E7%BA%A6\" >\u8981\u7ea6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E8%AF%8D\" >\u5173\u952e\u8bcd<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"\u8981\u7d04\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%BA%A6\"><\/span>\u8981\u7ea6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6797\u5947\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\uff0c\u7531DNA\u9519\u914d\u4fee\u590d(MMR)\u57fa\u56e0\u7684\u75c5\u539f\u6027\u7a81\u7136\u53d8\u5f02\u5f15\u8d77\u7684\u3002\u5b83\u901a\u5e38\u4e0e\u667a\u529b\u969c\u788d\u548c\u5148\u5929\u6027\u7578\u5f62\u7b49\u4e34\u5e8a\u7279\u75c7\u6709\u5173\uff0c\u4f46\u76f8\u90bb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u4e5f\u53ef\u5f15\u8d77\u6613\u611f\u6027\u764c\u75c7\u7efc\u5408\u75c7\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d52\u5c81\u7684\u7537\u6027\uff0c\u60a3\u6709\u7531\u67d3\u8272\u4f532p16.3\u2010p21\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5f15\u8d77\u7684\u6797\u5947\u7efc\u5408\u75c7\u3002\u8be5\u60a3\u8005\u667a\u529b\u969c\u788d\uff0c\u53d1\u73b0MSH2\u548cMSH6\u86cb\u767d\u7f3a\u4e4f\u8868\u8fbe\uff0c\u5e76\u4f34\u6709MMR\u7f3a\u5931\uff0c\u5e76\u5076\u7136\u53d1\u73b0\u4e86\u5e76\u53d1\u7684S\u72b6\u7ed3\u80a0\u817a\u764c\u548c\u524d\u5217\u817a\u817a\u764c\u3002\u5bb6\u65cf\u53f2\u5e76\u4e0d\u6e05\u695a\u3002\u8eab\u4f53\u68c0\u67e5\u663e\u793a\u8eab\u6750\u77ee\u5c0f\uff0c\u989d\u5934\u77ed\uff0c\u62c7\u6307\u77ed\u5e76\u4f34\u6709\u5c0f\u8111\u75c7\uff0c\u624b\u6709\u77ed\u6307\u75c7\uff0c\u624b\u638c\u6709\u6a2a\u7eb9\uff0c\u811a\u5e95\u6709\u8272\u7d20\u6c89\u7740\uff0c\u811a\u5bbd\u800c\u5c0f\u3002\u8be5\u60a3\u8005\u56e0pT3N1S\u72b6\u817a\u764c\uff0c\u8fdb\u884c\u4e86\u56de\u80a0\u76f4\u80a0\u543b\u5408\u672f\u548c\u5168\u7ed3\u80a0\u5207\u9664\u672f\u3002 MSH2\u3001MSH6\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\u7684\u751f\u6b96\u7ec6\u80de\u7cfb\u9057\u4f20\u68c0\u6d4b\u663e\u793a\uff0c\u6709\u5b8c\u5168\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u3002 \u57fa\u4e8eSNP\u9635\u5217\u7684DNA\u62f7\u8d1d\u6570\u5206\u6790\uff0c\u786e\u5b9a\u57282p16.3-p21\u67094.8Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u9664\u4e863\u4e2a\u4e0e\u6797\u5947\u7efc\u5408\u75c7\u6709\u5173\u7684\u57fa\u56e0\u5916\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u67d3\u8272\u4f53\u5207\u7247\u5305\u62ec\uff0cNRXN1\u3001CRIPT\u3001CALM2\u3001FBXO11\u3001LHCGR\u3001MCFD2\u3001TTC7A\u3001EPAS1\u3001PRKCE\u3001\u4ee5\u53ca15\u79cd\u57fa\u56e0\u3002\u5982\u5bb6\u65cf\u6027\u5927\u80a0\u817a\u7624\u75c5\u7b49\u5176\u4ed6\u9057\u4f20\u6027\u764c\u75c7\u6613\u611f\u6027\u7efc\u5408\u75c7\u4e2d\uff0c\u4e5f\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5148\u5929\u6027\u57fa\u56e0\u7f3a\u5931<\/a>\u7684\u62a5\u544a\u3002\u4f5c\u8005\u7684\u62a5\u544a\u548c\u5bf9\u6587\u732e\u7684\u56de\u987e\u8868\u660e\uff0c2p16\u2010p21\u67d3\u8272\u4f53\u533a\u57df\u5185\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u662f\u6797\u5947\u7efc\u5408\u75c7\u7684\u7f55\u89c1\u7684\u75c5\u56e0\uff0c\u4f46\u5448\u73b0\u51fa\u4e0d\u540c\u7684\u8868\u578b\u7279\u75c7\uff0c\u8fd9\u4e00\u7efc\u5408\u75c7\u5b9e\u4f53\u7684\u8ba4\u8bc6\u548c\u91cd\u89c6\u9700\u8981\u7279\u522b\u5f3a\u8c03\u3002<\/p>\n\n\n\n<p>\u5171\u540c\u4f5c\u8005: Zsofia K. Stadler, MD, 1275 York Ave. Box 295, New York, NY 10065, stadlerz@mskcc.org, Telephone:<br>646-888-4039\u3001FAX:646-888-4051<br>*\u5171\u540c\u4f5c\u8005<br>\u5229\u76ca\u51b2\u7a81:\u65e0<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u30ad\u30fc\u30ef\u30fc\u30c9\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E8%AF%8D\"><\/span>\u5173\u952e\u8bcd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6797\u5947\u7efc\u5408\u75c7;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f53\u7f3a\u5931<\/a>;\u524d\u5217\u817a\u764c\u3001\u5927\u80a0\u764c\u3001 2p<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u306f\u3058\u3081\u306b\"><span class=\"ez-toc-section\" id=\"%E5%BA%8F%E8%A8%80\"><\/span>\u5e8f\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6797\u5947\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u7531DNA\u9519\u914d\u4fee\u590d(MMR)\u57fa\u56e0(MLH1\u3001MSH2\u3001MSH6\u3001PMS2)\u7684\u75c5\u539f\u6027\u7a81\u7136\u53d8\u5f02\u4ee5\u53caEPCAM(TACSTD1)\u57fa\u56e0\u76843&#8217;\u5916\u663e\u5b50\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5f15\u8d77\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\u3002\u56e0\u4e3a\u662f\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\uff0c\u5728\u98ce\u9669\u4e0a\u4e0e\u5927\u80a0\u764c\u3001\u5b50\u5bab\u5185\u819c\u764c\u3001\u5375\u5de2\u764c\u3001\u80c3\u764c\u3001\u4e0a\u90e8\u5c3f\u8def\u764c\u6709\u5173\u3002[<a href=\"#reference01\">1<\/a>]\u3002 MSH2\u3001MSH6\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\uff0c\u5728\u67d3\u8272\u4f532p\u7684\u4f4d\u7f6e\u4e0a\u3002 \u6797\u5947\u7efc\u5408\u75c7\u7684\u8bca\u65ad\u8fc7\u7a0b\u5305\u62ec\uff0c\u5bf9MMR\u86cb\u767d\u7684\u53d1\u73b0\u80bf\u7624\u514d\u75ab\u7ec4\u5316(IHC)\u67d3\u8272\u3001Microsatellites\u4e0d\u5b89\u5b9a\u6027(MSI)\u5206\u6790\u3001\u4ee5\u53ca\u751f\u6b96\u7ec6\u80de\u7cfb\u57fa\u56e0\u68c0\u67e5[<a href=\"#reference01\">1<\/a>]\u3002<\/p>\n\n\n\n<p>\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\uff0c\u662f\u4e00\u4e2a\u7279\u5b9a\u67d3\u8272\u4f53\u7247\u6bb5\u4e2d\u591a\u4e2a\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u7684\u7ed3\u679c\u3002\u6709\u5982\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u548c\u5148\u5929\u6027\u7578\u5f62\u7b49\u591a\u79cd\u4e34\u5e8a\u7279\u5f81\u7684\u60a3\u8005\uff0c\u5747\u88ab\u53d1\u73b0\u60a3\u6709\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>[<a href=\"#reference02\">2<\/a>]\u3002\u5f88\u591a\u76f8\u90bb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\uff0c\u56e0\u4e3a\u76f8\u5173\u7684\u8868\u578b\u5f80\u5f80\u5f88\u590d\u6742\uff0c\u5e76\u5bfc\u81f4\u751f\u6b96\u80fd\u529b\u4e0b\u964d\uff0c\u5f88\u591a\u662fde novo\u4e8b\u4ef6\u7684\u7ed3\u679c[<a href=\"#reference02\">2<\/a>]\u3002<\/p>\n\n\n\n<p>\u867d\u7136\u4ee5\u524d\u6709\u62a5\u9053\uff0c\u4f46\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u662f\u764c\u75c7\u6613\u611f\u6027\u7efc\u5408\u75c7\u7684\u4e00\u4e2a\u7f55\u89c1\u539f\u56e0[<a href=\"#reference03\">3<\/a>]\u3002 \u5728\u672c\u6587\u4e2d\uff0c\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a\u5305\u62ecMSH2\u3001MSH6\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\u5728\u5185\u7684\u67d3\u8272\u4f532p16.3\u2010p21\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u5f15\u8d77\u7684\u6797\u5947\u7efc\u5408\u75c7\u60a3\u8005\u3002 \u7ed3\u5408\u5bf9\u4ee5\u5f80\u62a5\u544a\u7684\u56de\u987e\uff0c\u6211\u4eec\u5f3a\u8c03\u9700\u8981\u8ba4\u8bc6\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\uff0c\u5e76\u9700\u8981\u6839\u636e\u60a3\u8005\u5e74\u9f84\u8003\u8651\u764c\u75c7\u98ce\u9669\u548c\u5bf9\u4e2a\u4f53\u5f71\u54cd\u7ba1\u7406\u7684\u5fc5\u8981\u6027\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u65b9\u6cd5\"><span class=\"ez-toc-section\" id=\"%E6%96%B9%E6%B3%95\"><\/span>\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u81e8\u5e8a\u50cf\"><span class=\"ez-toc-section\" id=\"%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\"><\/span>\u4e34\u5e8a\u8868\u73b0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u540d52\u5c81\u7684\u7537\u5b50\u6709\u4e0d\u660e\u75c5\u56e0\u7684\u667a\u529b\u969c\u788d\u53f2\uff0c22ng\/mL\u7684PSA\u7b5b\u67e5\u540e\u7684\u6d3b\u68c0\u4e2d\uff0c\u88ab\u786e\u8bca\u4e3a\u683c\u91cc\u68ee7\u524d\u5217\u817a\u764c\u3002 \u9aa8\u626b\u63cf\u7ed3\u679c\u4e3a\u9634\u6027\u3002 \u8ba1\u5212\u8fdb\u884c\u5916\u90e8\u653e\u5c04\u6cbb\u7597\uff0c\u4f46\u7531\u4e8e\u5728\u653e\u7597\u671f\u95f4\u672a\u80fd\u9075\u5b88\u5176\u4f59\u7684\u89c4\u5b9a\u800c\u6ca1\u6709\u8fdb\u884c\u3002\u5728\u6765\u533b\u9662\u8fdb\u884c\u624b\u672f\u6cbb\u7597\u65f6\uff0c\u60a3\u8005\u7684\u62a4\u7406\u4eba\u5458\u62a5\u544a\u8bf4\u76f4\u80a0\u533a\u57df\u67091\u4e2a\u6708\u95f4\u7684\u9c9c\u7ea2\u8840\u6db2\u7684\u75c5\u53f2\u3002\u672f\u524d\u8bc4\u4f30\u5168\u8eab\u548c\u524d\u5217\u817a\u78c1\u5171\u632f\u6210\u50cf(MRI)\u663e\u793a\uff0c\u6000\u7591\u6709\u539f\u53d1\u80bf\u7624\u548c\u5c40\u90e8\u524d\u5217\u817a\u75be\u75c5\uff0c\u4ee5\u53ca\u8fdc\u4f4dS\u72b6\u7ed3\u80a0\u7684\u540c\u5fc3\u6027\u80a5\u539a\u3002\u8f6f\u5f0fS\u72b6\u7ed3\u80a0\u955c\u68c0\u67e5\u53d1\u73b0\uff0cS\u72b6\u7ed3\u80a0\u91cc\u7684\u4e00\u90e8\u5206\uff0c\u5468\u56f4\u5305\u56f4\u7740\u4e00\u4e2a\u5de8\u5927\u7684\u975e\u95ed\u585e\u6027\u80bf\u7624\uff0c\u6d3b\u68c0\u8bc1\u5b9e\u4e3a\u6d78\u6da6\u6027\u4f4e\u5206\u5316\u7684\u764c\u75c7\u3002MMR\u86cb\u767d\u8d28\u7684IHC\u67d3\u8272\u663e\u793aMSH6\u7684\u7f3a\u5931\u3002\u80f8\u90e8\u3001\u8179\u90e8\u4ee5\u53ca\u9aa8\u76c6\u7684\u75c5\u671f\u5206\u7c7bCT\u663e\u793a\uff0c\u6ca1\u6709\u8fdc\u5904\u8f6c\u79fb\u7684\u8bc1\u636e\u3002<\/p>\n\n\n\n<p>\u57fa\u4e8eMMR IHC\u7684\u5f02\u5e38\u7ed3\u679c\uff0c\u60a3\u8005\u88ab\u4ecb\u7ecd\u8f6c\u79fb\u5230Clinical Genetics Service\u3002 4\u5bb6\u7cfb\u8c31\u4e2d\u6ca1\u6709\u53d1\u73b0\u4efb\u4f55\u764c\u75c7\u3001\u7ed3\u76f4\u80a0\u606f\u8089\u6216\u53d1\u80b2\u969c\u788d\u3002\u60a3\u8005\u6ca1\u6709\u5b69\u5b50\u3002 \u6709\u5144\u5f1f3\u4eba\u3001\u59d0\u59b92\u4eba\u90fd\u572840~50\u5c81\u5de6\u53f3\u3002 \u7236\u4eb2\u6bcd\u4eb270\u5c81\u5de6\u53f3\u5f88\u5065\u5eb7\u3002\u540c\u60c5\u88ab\u62d2\u7edd\u4e86\u3002 \u8be5\u5bb6\u65cf\u662f\u975e\u6d32\u88d4\u7f8e\u56fd\u4eba\u3002\u51fa\u751f\u65f6\u667a\u529b\u7f3a\u9677\u3002\u8a00\u8bed\u7406\u89e3\u4e0a\u53ea\u9650\u4e8e\u7b80\u5355\u7684\u6307\u4ee4\uff0c\u8bed\u8a00\u8868\u73b0\u53ea\u9650\u4e8e\u5c11\u6570\u7684\u5355\u8bcd\u3002 \u4ed6\u4e0e\u7236\u6bcd\u4f4f\u5728\u4e00\u8d77\uff0c\u6240\u6709\u7684\u81ea\u7406\u6d3b\u52a8\u90fd\u9700\u8981\u5e2e\u52a9\u3002\u4ed6\u6bcf\u5929\u53c2\u52a0\u9762\u5411\u6210\u4eba\u7684\u8bfe\u7a0b\uff0c\u9700\u8981\u6bcf\u5929\u7684\u76d1\u7763\u548c\u652f\u6301\u3002\u4f53\u683c\u68c0\u67e5\u663e\u793a\u8eab\u6750\u77ee\u5c0f(4&#8217;8&#8242;)\u3001\u77ed\u7684\u989d\u5934\u548c\u77ed\u7684\u62c7\u6307\u5e76\u4f34\u6709\u5c0f\u8111\u75c7\uff0c\u77ed\u6307\u75c7\uff0c\u624b\u638c\u6a2a\u76b1\uff0c\u6307\u5c16\u6709\u8089\u57ab\uff0c\u8db3\u5e95\u8272\u7d20\u6c89\u7740\u5e76\u4f34\u6709\u5bbd\u800c\u5c0f\u7684\u811a(<strong>\u56fe1a<\/strong>)\u3002\u6587\u4ef6\u83b7\u5f97\u4e86\u60a3\u8005\u7236\u6bcd\/\u76d1\u62a4\u4eba\u7684\u4e66\u9762\u77e5\u60c5\u540c\u610f\uff0c\u7167\u7247\u88ab\u7528\u4e8e\u53d1\u8868\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%AD%A6%E7%9A%84%E8%AF%84%E4%BB%B7\"><\/span>\u9057\u4f20\u5b66\u7684\u8bc4\u4ef7<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u4e8e\u5b58\u5728\u7ed3\u80a0\u80bf\u7624\u4e0a\u7684MMR\u7f3a\u5931\uff0c\u60a3\u6709\u6797\u5947\u7efc\u5408\u75c7\u7684\u53ef\u80fd\u6027\u5f88\u9ad8\u3002\u8fd8\u6ce8\u610f\u5230\u6797\u5947\u7efc\u5408\u75c7\u548c\u524d\u5217\u817a\u764c\u4e4b\u95f4\u53ef\u80fd\u5b58\u5728\u5173\u8054\u3002 \u60a3\u8005\u7684\u6bcd\u4eb2\uff0c\u63d0\u4f9b\u4e86MSH6\u3001MSH2\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\u7684\u751f\u6b96\u7ec6\u80de\u7cfb\u57fa\u56e0\u68c0\u67e5\u7684\u77e5\u60c5\u540c\u610f\u4e66\uff0c\u83b7\u5f97\u4e86\u751f\u6b96\u7ec6\u80de\u7cfbDNA\u7684\u6807\u672c\u3002MSH6\u3001MSH2\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\u7684\u751f\u6b96\u7ec6\u80de\u7cfb\u57fa\u56e0\u68c0\u67e5\u5728MSK Diagnostic Molecular Genetics Laboratory(\u51b3\u5b9a\u6d4b\u5e8f\u548c\u591a\u91cd\u7ed3\u624e\u4f9d\u8d56\u63a2\u9488\u6269\u589e)\u5b9e\u65bd\u3002 \u5728\u521d\u6b65\u68c0\u6d4b\u7ed3\u679c\u51fa\u6765\u540e\uff0c\u60a3\u8005\u7684\u6bcd\u4eb2\uff0c\u5bf9\u4e0e\u5728MSK Clinical Cytogenetics Laboratory\u5b9e\u65bd\u7684\u57fa\u4e8eSNP\u9635\u5217\u7684DNA\u590d\u5236\u6570\u5206\u6790(Affymetrix CytoScan HD Assay)\u63d0\u4f9b\u4e86\u989d\u5916\u7684\u77e5\u60c5\u540c\u610f\u4e66\u3002<\/p>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E6%A3%80%E6%9F%A5%E7%9A%84%E7%BB%93%E6%9E%9C\"><\/span>\u57fa\u56e0\u68c0\u67e5\u7684\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u57fa\u56e0\u68c0\u6d4b\u663e\u793aMSH6\u3001MSH2\u3001\u4ee5\u53caEPCAM\u57fa\u56e0\u7684\u57fa\u56e0\u6709\u6742\u5408\u6027\u5b8c\u5168<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u3002 \u57fa\u4e8e\u8fd9\u4e00\u53d1\u73b0\uff0c\u57fa\u4e8eSNP\u9635\u5217\u7684DNA\u62f7\u8d1d\u6570\u5206\u6790\uff0c\u786e\u5b9a\u4e86\u57282p16.3\u2010p21\u76844.8Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u9664\u4e863\u4e2a\u6797\u5947\u7efc\u5408\u75c7\u76f8\u5173\u7684\u57fa\u56e0\u5916\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u67d3\u8272\u4f53\u90e8\u5206\u8fd8\u5305\u62ec\u4ee5\u4e0b24\u4e2a\u57fa\u56e0: PRKCE\u3001EPAS1\u3001TMEMAS247\u3001ATPV1E2\u3001HORQ\u3001PIGF\u3001CRIPT\u3001SOCS5\u3001LOC38948\u3001LOC100134259\u3001MCFD2\u3001TTC7A\u3001C2orf61\u3001CLM2\u3001MIR559\u3001KCNK12\u3001FBXO11\u3001FOXN2\u3001PPP1R21\u3001STON1\u3001GTF2A1L\u3001LHCGR\u3001FSHR\u3001\u53caNRXN1(<strong>\u56fe1b<\/strong>)\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u81e8\u5e8a\u30b7\u30fc\u30af\u30a8\u30e9\"><span class=\"ez-toc-section\" id=\"%E4%B8%B4%E5%BA%8A%E5%90%8E%E9%81%97%E7%97%87\"><\/span>\u4e34\u5e8a\u540e\u9057\u75c7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6839\u636e\u6700\u521d\u53d1\u73b0\u7684MSH6\u3001MSH2\u3001\u53caEPCAM\u7684\u5b8c\u5168<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\uff0c\u8bca\u65ad\u4e3a\u6797\u5947\u7efc\u5408\u75c7\u3002\u9274\u4e8e\u5f02\u65f6\u6027\u5927\u80a0\u764c\u7684\u9ad8\u98ce\u9669\uff0c\u548c\u9075\u5b88\u7ed3\u80a0\u955c\u68c0\u67e5\u7684\u80a0\u9053\u51c6\u5907\u7684\u56f0\u96be\uff0c\u5728\u8003\u8651\u4e86\u4e0d\u540c\u624b\u672f\u65b9\u5f0f\u7684\u98ce\u9669\u548c\u5229\u76ca\u540e\uff0c\u5bb6\u5c5e\u8ba8\u8bba\u5e76\u63a5\u53d7\u4e86\u56de\u80a0\u76f4\u80a0\u543b\u5408\u672f\u548c\u5168\u7ed3\u76f4\u80a0\u5207\u9664\u7684\u65b9\u6848\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u63a5\u53d7\u4e86\u90e8\u5206\u76f4\u80a0\u5207\u9664\u672f\u548c\u56de\u80a0\u4e2d\u90e8\u76f4\u80a0\u543b\u5408\u672f\u4ee5\u53ca\u673a\u5668\u5f0f\u5168\u5927\u80a0\u5207\u9664\u672f\u3002\u624b\u672f\u75c5\u7406\u8bc1\u5b9e\uff0c\u786e\u8ba4\u4e86\u4f34\u968f\u6dcb\u5df4\u7ba1\u6d78\u6da6pT3N1M0\u4f4e\u5206\u5316\u578b\u76f4\u80a0S\u72b6\u7ed3\u80a0\u817a\u764c\uff0c\u4f34\u6709\u80bf\u7624\u6d78\u6da6\u6dcb\u5df4\u7403\u589e\u591a;42\u4e2a\u6dcb\u5df4\u7ed3\u4e2d2\u4e2a\u6210\u75be\u60a3\u9633\u6027\u3002\u8fd8\u89c2\u5bdf\u5230\u4e00\u4e2a\u5355\u72ec\u7684\u7ba1\u72b6\u7ed2\u6bdb\u817a\u7624\uff0c\u5e76\u4f34\u6709\u7c98\u819c\u5185\u764c\u53d8\u3002 IHC\u67d3\u8272\u663e\u793a\uff0c\u6ca1\u6709MSH2\u548cMSH6\u86cb\u767d\u8d28\u7684\u53d1\u73b0\u3001MLH1\u53caPMS2\u86cb\u767d\u8d28\u7684\u53d1\u73b0\u6b63\u5e38(<strong>\u56fe2a-d<\/strong>)\u3002 \u60a3\u8005\u624b\u672f\u6062\u590d\u826f\u597d\uff0c\u5e76\u63a5\u53d7\u4e86\u8f85\u52a9\u5316\u7597\uff0c\u5305\u62ec\u5361\u57f9\u4ed6\u6ee8\u548c\u5965\u6c99\u5229\u94c2(CAPEOX)\u3002 \u7531\u4e8e\u7d2f\u79ef\u7684\u526f\u4f5c\u7528\uff0c\u5305\u62ec\u8840\u5c0f\u677f\u51cf\u5c11\u548c\u8d2b\u8840\uff0c\u5316\u7597\u88ab\u63d0\u524d\u505c\u6b62\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u6700\u7ec8\u63a5\u53d7\u4e86\u803b\u9aa8\u540e\u6839\u6cbb\u6027\u524d\u5217\u817a\u5207\u9664\u672f\uff0c\u5e76\u8fdb\u884c\u4e86\u4fdd\u7559\u795e\u7ecf\u7684\u53cc\u4fa7\u6dcb\u5df4\u7ed3\u5ed3\u6e05\u3002\u75c5\u7406\u663e\u793a\u67095\u4e2a\u826f\u6027\u6dcb\u5df4\u7ed3pT3a\u591a\u4e2d\u5fc3\u6027Gleason7(3+4)\u6d78\u6da6\u6027\u817a\u764c\u3002 IHC\u67d3\u8272\u663e\u793a\uff0c\u6ca1\u6709MSH2\u53caMSH6\u86cb\u767d\u8d28\u53d1\u73b0\uff0cMLH1\u53caPMS2\u7684\u86cb\u767d\u8d28\u53d1\u73b0\u6b63\u5e38(<strong>\u56fe2e-h<\/strong>)\u3002<\/p>\n\n\n\n<p>\u5728\u540e\u7eed\u7684\u4e34\u5e8a\u9057\u4f20\u54a8\u8be2\u4e2d\uff0c\u4eba\u4eec\u8ba8\u8bba\u5230\u76f8\u90bb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u60a3\u8005\u667a\u529b\u969c\u788d\u548c\u6797\u5947\u7efc\u5408\u75c7\u7684\u539f\u56e0\u3002\u6b64\u5916\uff0c\u5927\u80a0\u764c\u548c\u524d\u5217\u817a\u764c\u4e2d\uff0c\u90fd\u6ca1\u6709MSH2\u53caMSH6\u7684\u86cb\u767d\u8d28\u53d1\u73b0\uff0c2\u79cd\u764c\u75c7\u90fd\u662f\u7531\u6797\u5947\u7efc\u5408\u75c7\u5f15\u8d77\u7684\u3002\u867d\u7136\u6240\u53d1\u73b0\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u53ef\u80fd\u662f\u65b0\u7684\u8d77\u6e90\uff0c\u4f46\u5efa\u8bae\u5bf9\u60a3\u8005\u7684\u4e00\u7ea7\u4eb2\u5c5e\u8fdb\u884c\u4e2a\u4f53\u5316\u7684\u9057\u4f20\u98ce\u9669\u8bc4\u4f30\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u8003\u5bdf\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5982\u5bb6\u65cf\u6027\u5927\u80a0\u817a\u764c\u75c7[<a href=\"#reference04\">4<\/a>, <a href=\"#reference05\">5<\/a>]\u7b49\u9057\u4f20\u6027\u764c\u75c7\u6613\u611f\u6027\u7efc\u5408\u75c7\u7684\u80cc\u666f\u4e0b\uff0c\u4ee5\u524d\u76f8\u90bb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u5df2\u88ab\u62a5\u9053\u3002\u4f5c\u8005\u62a5\u544a\u4e86\u4e00\u4f4d\u65b0\u8fd1\u88ab\u8bca\u65ad\u4e3a\u540c\u65f6\u6027\u764c\u75c7\u7684\u6210\u5e74\u7537\u6027\uff0c\u4ed6\u6709\u667a\u529b\u969c\u788d\u7684\u75c5\u53f2\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u5e76\u88ab\u53d1\u73b0\u6709\u6797\u5947\u7efc\u5408\u75c7\u3002\u901a\u8fc7\u5bf9\u6587\u732e\u7684\u56de\u987e\uff0c\u8bb0\u8f7d\u4e86\u5c11\u6570\u5305\u62ec2p16p21\u5177\u6709\u7c7b\u4f3c\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u5c11\u6570\u4e2a\u4f53\u3002[<a href=\"#reference06\">6<\/a>\u3001<a href=\"#reference07\">7<\/a>\u3001<a href=\"#reference08\">8<\/a>\u3001<a href=\"#reference09\">9<\/a>\u3001<a href=\"#reference10\">10<\/a>](<strong>\u56fe1c<\/strong>\u3001<strong>\u88681<\/strong>) \u4f5c\u8005\u7684\u75c5\u4eba\u7684\u8eab\u4f53\u7279\u75c7\u548c\u667a\u529b\u969c\u788d\u7a0b\u5ea6\uff0c\u4e0e\u4ee5\u524d\u62a5\u9053\u30012p16.2p21<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4e2a\u4f53\u76f8\u4f3c\uff0c\u4f46\u8be5\u75c5\u4eba\u662f\u76ee\u524d\u53d7\u5f71\u54cd\u4e2a\u4f53\u7684\u6700\u5e74\u957f\u7684\u3002<\/p>\n\n\n\n<p>\u5305\u62ec\u57284.8 Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4e2d\u7684\u57fa\u56e0\u7684\u5ba1\u67e5\u663e\u793a\u4e86\u4e00\u4e9b\u57fa\u56e0\u7684\u6f5c\u5728\u533b\u5b66\u610f\u4e49(<strong>\u88682<\/strong>)\u3002 EPAS1\u3001MCFD2\u3001\u53caCALM2\u57fa\u56e0\u7684\u7a81\u7136\u53d8\u5f02\uff0c\u5206\u522b\u4e0e\u7ea2\u7ec6\u80de\u589e\u591a\u75c7\u5bb6\u65cf4\u578b\u3001\u7b2cV\u56e0\u5b50\u53ca\u7b2cVIII\u56e0\u5b50\u590d\u5408\u7f3a\u5931\u75c7\u3001\u4ee5\u53caLong-QT\u7efc\u5408\u75c7\u6709\u5173\u3002 \u4f5c\u8005\u7684\u60a3\u8005\uff0c\u7ea2\u7ec6\u80de\u751f\u6210\u7d20\u6c34\u5e73\u6b63\u5e38\uff0c\u51fa\u73b0\u4e86\u8272\u5dee\u808c\u9499\u86cb\u767d\u8d2b\u8840\uff0c\u5f88\u53ef\u80fd\u662f\u7531\u4e8e\u6162\u6027\u80be\u810f\u75be\u75c5\uff0c\u4f46\u6ca1\u6709\u7ea2\u7ec6\u80de\u589e\u751f\u5bb6\u65cf\u60274\u578b\u7684\u4f50\u8bc1\u3002 \u5fc3\u7535\u56fe\u6ca1\u6709\u663e\u793aQT\u5ef6\u957f\u7efc\u5408\u75c7\u3002 \u6211\u4eec\u5047\u8bbe\uff0c\u4e00\u79cd\u57fa\u56e0\u578b-\u8868\u578b\u673a\u5236\u53ef\u80fd\u5c31\u89e3\u91ca\u4e86\u4e3a\u4ec0\u4e48\u60a3\u8005\u4e0d\u4f1a\u53d1\u5c55\u6210\u8fd9\u4e9b\u60c5\u51b5\u3002 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684CRIPT\u53caNRXN1\u81f3\u5c11\u67092\u5904\u4e0e\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u7f3a\u9677\u6709\u5173\uff0c\u56e0\u6b64\u8be5\u60a3\u8005\u7684\u667a\u529b\u969c\u788d\u53f2\u5f88\u53ef\u80fd\u4e0e\u6240\u53d1\u73b0\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u6709\u5f88\u9ad8\u7684\u5173\u8054\u6027\u3002 \u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u5728\u4f5c\u8005\u7684\u75c5\u4eba\u8eab\u4e0a\u53d1\u73b0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u662f27<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7684\u7f3a\u5931<\/a>\uff0c\u4e0d\u5305\u542bSIX3\u57fa\u56e0\u3002 \u5728\u4ee5\u524d\u7684\u4e00\u4e9b\u62a5\u544a\u4e2d\uff0c\u5df2\u7ecf\u6ce8\u610f\u5230SIX3\u4e0e\u5168\u524d\u8111\u75c5\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e\u6797\u5947\u7efc\u5408\u75c7\uff0c\u8fd9\u4e2a\u75c5\u4f8b\u9274\u4e8e\u5148\u5929\u6027\u5927\u80a0\u764c\u7684\u98ce\u9669\uff0c\u4e5f\u5f3a\u8c03\u4e86\u5bf9\u624b\u672f\u7ba1\u7406\u4f5c\u51fa\u77e5\u60c5\u51b3\u7b56\u7684\u91cd\u8981\u6027\u3002Parry\u7b49\u4eba\u5728\u4e00\u4e2a50\u540dMMR\u57fa\u56e0\u53d8\u5f02\u53d7\u8bd5\u8005\u7684\u961f\u5217\u4e2d\uff0c\u5728\u300c\u5e7f\u6cdb\u7ed3\u80a0\u5207\u9664\u300d(\u5b9a\u4e49\u4e3a\u300c\u4f34\u968f\u56de\u80a0\u76f4\u80a0\u543b\u5408\u672f\u7684\u5168\u7ed3\u80a0\u5207\u9664\u53ca\u56de\u80a0S\u72b6\u7ed3\u80a0\u543b\u5408\u672f\u7684\u4e9a\u7ed3\u80a0\u5168\u6458\u672f\u300d)\u540e\u6ca1\u6709\u53d1\u73b0\u5f02\u65f6\u6027\u764c\uff0c\u800c\u5728332\u540d\u7a81\u53d8\u643a\u5e26\u8005\u4e2d\u63a5\u53d7\u533a\u57df\u5207\u9664\u672f\u768474\u4eba\u60a3\u6709\u5f02\u65f6\u6027\u5927\u80a0\u764c<a href=\"#reference11\">[11]<\/a>\u3002\u5728\u8fd9\u4e2a\u6848\u4f8b\u4e2d\uff0c\u8be5\u5bb6\u5ead\u51b3\u5b9a\u8fdb\u884c\u5168\u7ed3\u80a0\u5207\u9664\u672f\uff0c\u5305\u62ec\u5bf9\u672a\u6765\u764c\u75c7\u98ce\u9669\u30011\u5e741\u6b21\u6301\u7eed\u8fdb\u884c\u7ed3\u80a0\u955c\u68c0\u67e5\u7684\u9700\u8981\u548c\u751f\u6d3b\u8d28\u91cf\u7684\u8003\u8651\u3002\u8fd9\u4e2a\u6848\u4f8b\u6240\u4f53\u73b0\u7684\u53e6\u4e00\u70b9\u662f\uff0c\u524d\u5217\u817a\u764c\u548c\u6797\u5947\u7efc\u5408\u75c7\u4e4b\u95f4\u7684\u5173\u8054\u3002\u5c3d\u7ba1\u5b58\u5728\u76f8\u4e92\u77db\u76fe\u7684\u6570\u636e\uff0c\u4f46Raymond\u7b49\u4eba\u6709\u7814\u7a76\u3002\u4e0e\u666e\u901a\u4eba\u7fa4\u76f8\u6bd4\uff0c\u6797\u5947\u7efc\u5408\u75c7\u7a81\u53d8\u643a\u5e26\u8005\u60a3\u524d\u5217\u817a\u764c\u7684\u603b\u5371\u9669\u6bd4\u4e3a1.99(95% CI\u30011.31~3.03; P = 0.0013)<a href=\"#reference12\">[12]<\/a>\u3002\u4e8b\u5b9e\u4e0a\uff0c\u5728\u60a3\u8005\u7684\u524d\u5217\u817a\u764c\u7ec4\u7ec7\u4e2d\uff0cDNA\u9519\u914d\u4fee\u590d\u86cb\u767d\u7684\u514d\u75ab\u7ec4\u5316\u67d3\u8272\uff0c\u8868\u660e\u6797\u5947\u7efc\u5408\u75c7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u5728\u60a3\u8005\u7684\u524d\u5217\u817a\u764c\u53d1\u5c55\u4e2d\u8d77\u4e86\u4f5c\u7528\uff0c\u660e\u786e\u4e86MSH2\u548cMSH6\u86cb\u767d\u7684\u7f3a\u5931\u3002\u6700\u540e\uff0c\u5728\u60a3\u8005\u7684\u7b2c\u4e00\u6b21\u76f4\u80a0S\u72b6\u7ed3\u80a0\u817a\u764c\u6d3b\u68c0\u4e2d\u53ea\u6709MSH6\u86cb\u767d\u4e0d\u5b58\u5728\uff0c\u4f46\u6d3b\u68c0\u6807\u672c\u4e2d\u62a5\u544a\u7684MSH2\u7684\u4fdd\u7559\uff0c\u5982\u8fb9\u7f18\u4f2a\u5f71\u7b49\u5f88\u53ef\u80fd\u662f\u7531\u4e8e\u6280\u672f\u95ee\u9898\u3002\u60a3\u8005\u5207\u9664\u7684\u76f4\u80a0S\u72b6\u7ed3\u80a0\u817a\u764c\u6807\u672c\u7684MMR IHC\u5206\u6790\u663e\u793a\uff0cMSH2\u548cMSH6\u86cb\u767d\u90fd\u4e0d\u5b58\u5728\uff0c\u53cd\u6620\u4e86\u60a3\u8005\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\u3002<\/p>\n\n\n\n<p>\u4f5c\u8005\u62a5\u544a\u7684\u67d3\u8272\u4f532p16.3\u2010p21\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931<\/a>\uff0c\u4e0e\u4ee5\u524d\u62a5\u9053\u7684\u4e00\u4e2a\u75c5\u4f8b\u6709\u5f88\u5f3a\u7684\u76f8\u4f3c\u6027\u3002\u8be5\u60a3\u8005\u7684\u667a\u529b\u969c\u788d\u7684\u75c5\u56e0\u4ee5\u524d\u6ca1\u6709\u88ab\u8c03\u67e5\u8fc7\u3002\u6700\u8fd1\u5f00\u53d1\u7684\u6280\u672f\uff0c\u5728\u75c5\u4eba\u8fd8\u662f\u4e2a\u513f\u7ae5\u7684\u65f6\u5019\u662f\u6ca1\u6709\u7684\uff0c\u56e0\u6b64\u83b7\u5f97\u4e86\u68c0\u6d4b\u95f4\u8d28\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f53\u7f3a\u5931<\/a>\u7684\u80fd\u529b\u3002\u5df2\u786e\u5b9a\u7684\u76f8\u90bb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\uff0c\u4e3a\u60a3\u8005\u7684\u667a\u529b\u969c\u788d\u3001\u5f62\u6001\u5f02\u5e38\u7684\u7279\u75c7\u548c\u53ef\u80fd\u7684\u764c\u75c7\u8bca\u65ad\u63d0\u4f9b\u4e86\u53ef\u80fd\u7684\u89e3\u91ca\u3002\u968f\u7740\u4f7f\u7528\u5148\u8fdb\u7684\u9057\u4f20\u6280\u672f\u5bf9\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u548c\u5148\u5929\u6027\u7578\u5f62\u7684\u513f\u7ae5\u8fdb\u884c\u8bc4\u4f30\uff0c\u53ef\u80fd\u4f1a\u53d1\u73b0\u66f4\u591a\u542b\u6709\u764c\u75c7\u6613\u611f\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u91cd\u7ec4\u6848\u4f8b\u3002\u91cd\u8981\u7684\u662f\uff0c\u533b\u7597\u670d\u52a1\u63d0\u4f9b\u8005\u3001\u60a3\u8005\u548c\u7167\u987e\u8005\uff0c\u8981\u4e86\u89e3\u5728\u8fd9\u79cd\u8bca\u65ad\u73af\u5883\u4e0b\u7684\u76f8\u5173\u764c\u75c7\u98ce\u9669\uff0c\u4ee5\u4fbf\u5728\u9002\u5f53\u7684\u5e74\u9f84\u8003\u8651\u9002\u5f53\u7684\u533b\u7597\u7ba1\u7406\uff0c\u5982\u5f3a\u5316\u764c\u75c7\u76d1\u6d4b\u3001\u9884\u9632\u5904\u7406\u548c\u5316\u5b66\u9884\u9632\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u8b1d\u8f9e\"><span class=\"ez-toc-section\" id=\"%E8%B0%A2%E8%BE%9E\"><\/span>\u8c22\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u7814\u7a76\u7684\u90e8\u5206\u8d44\u91d1\u6765\u81eaRomeo Milio Lynch Syndrome Foundation\u3001Kate and Robert Niehaus Clinical Genetics Initiative\u3001\u4ee5\u53caNIH\/NCI Cancer Center Support Grant P30 CA008748\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u53c2\u8003\u6587\u732e\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a name=\"reference01\"><\/a>1.Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. \u6797\u5947\u7efc\u5408\u75c7\u7684\u56de\u987e:\u75c5\u4f8b\u3001\u5206\u5b50\u9057\u4f20\u5b66\u3001\u7b5b\u67e5\u3001\u9274\u522b\u8bca\u65ad\u3001\u548c\u533b\u7597\u7ed3\u679c\u3002 Clin\u30fbGenet 2009; 76(1):1\u201318.<br> <a name=\"reference02\"><\/a>2.Nussbaum, RL., McInnes, RR., Williard, HF. Thompson\u4e0eThompson Genetics in Medicine\u3002 6.Saunders\/Elsevier; Philadelphia: 2004. p. 164-165.<br> <a name=\"reference03\"><\/a>3.Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG,Bejjani BA. \u521d\u6b21\u57fa\u56e0\u578b\u8bca\u65ad\u7684\u5f71\u54cd:\u901a\u8fc7aCGH\u68c0\u6d4b\u51fa\u5177\u6709\u764c\u75c7\u503e\u5411\u7684\u5fae\u7f3a\u5931\u548c\u5fae\u91cd\u590d\u7efc\u5408\u75c7\u3002 Genet Med. 2009; 11(5):314\u2013322. [PubMed:19365269]<br> <a name=\"reference04\"><\/a>4.Herrera L, Kakati S, Gibas L, Pietrzak K, Sandberg AA. 5q\u7684\u95f4\u8d28\u7f3a\u5931\u7684\u7537\u6027\u7684\u52a0\u5fb7\u7eb3\u7efc\u5408\u75c7 Am J Med Genet. 1986; 25(3):473\u2013476. [PubMed: 3789010]<br> <a name=\"#reference05\"><\/a>5.Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S. A de novo de novo chromosome delletementation of chromosome q5\u5f15\u8d77\u5bb6\u65cf\u6027\u5927\u80a0\u817a\u7624\u75c7\u3001\u5f62\u6001\u5f02\u5e38\u3001\u8f7b\u5ea6\u7684\u7cbe\u795e\u8fdf\u949d\u3002 Am JGastroenterol. 2001; 96(10):3016\u20133020. [PubMed: 11693343]<br> <a name=\"reference06\"><\/a>6.Petit P, Fryns JP. \u5177\u6709\u6807\u8bb0\u67d3\u8272\u4f53\u5f62\u6210\u7684\u95f4\u8d28\u7f3a\u59312p\u4f34\u968f\u7740\u7f3a\u5931\u7247\u6bb5\u7684\u5f62\u6210\uff0c\u4ea7\u751f\u4e86\u4e00\u4e2a\u7a33\u5b9a\u7684\u56fa\u5b9a\u5316\u6807\u8bb0\u67d3\u8272\u4f53\u3002Jennette Coons\u3002 1997; 8(4):341-343.[PubMed: 9457505]<br> <a name=\"reference07\"><\/a>7.Sanders SR, Dawson AJ, Vust A, Hryshko M, Tomiuk M, Riordan D, Prasad C. \u67d3\u8272\u4f532p16.2p21\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002klingismorphol\u3002 2003; 12(3):183\u2013185. [PubMed: 14564157]<br> <a name=\"reference08\"><\/a>8.Lucci-Cordisco E, Zollino M, Baglioni S, Mancuso I, Lecce R, Gurrieri F, Crucitti A, Papi L, NeriG, Genuardi M. \u4f34\u6709MSH2\u57fa\u56e0\u5ea7\u7f3a\u5931\u4e00\u79cd\u65b0\u578b\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u4ee5\u53ca\u9057\u4f20\u6027\u975e\u606f\u8089\u75c5\u5927\u80a0\u764c\u3002Kling Jennette 2004; 67(2):178\u2013182.<br> <a name=\"reference09\"><\/a>9.Collins DL, Schimke RN. \u901a\u8fc7CHG\u9635\u5217\u68c0\u6d4b\u7684\u764c\u75c7\u6613\u611f\u6027\u3002 Genet Med.2011; 13(11):982. [PubMed: 22051689]<br> <a name=\"reference10\"><\/a>10.Morton, SA (Adams), Coppinger, J., Ballif, BC., Shaffer, LG., Ellison, JW., Saitta, SC., Stroud, T.,Manickam, K., Fan, Z. Response to the letter by Collins and Schimke. Genet Med. 2011; 13(11):982\u2013983. [PubMed: 22051689]<br> <a name=\"reference11\"><\/a>11.Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, Baron JA, Giles GG, Leggett BA,Winship I, Lipton L, Young GP, Young JP, Lodge CJ, Southey MC, Newcomb PA, Le Marchand L,Haile RW, Lindor NM, Gallinger S, Hopper JL, Jenkins MA. \u5bf9\u9519\u914d\u4fee\u590d\u57fa\u56e0\u7a81\u53d8\u643a\u5e26\u8005\u5f02\u65f6\u6027\u5927\u80a0\u764c\u7684\u98ce\u9669:\u66f4\u5e7f\u6cdb\u7684\u7ed3\u80a0\u624b\u672f\u7684\u597d\u5904\u3002 \u6d88\u5316\u90532011; 60(7):950-957\u3002 [PubMed: 21193451]<br> <a name=\"reference12\"><\/a>12.Raymond VM, Mukherjee B, Wang F, Huang SC, Stoffel EM, Kastrinos F, Syngal S, Cooney KA,Gruber SB. \u60a3\u6709\u6797\u5947\u7efc\u5408\u75c7\u7684\u7537\u6027\u60a3\u524d\u5217\u817a\u764c\u7684\u98ce\u9669\u589e\u52a0\u3002 J Clin Oncol. 2013;31(14):1713\u20131718. [PubMed: 23530095]<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"579\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/2p16-a.jpg\" alt=\"\" class=\"wp-image-18213\"\/><\/figure>\n\n\n\n<p><strong>\u56fe1<\/strong> <strong>1a<\/strong>)\u624b\u6307\u4ee5\u53ca\u811a\u8dbe\u7684\u77ed\u6307\u75c7(<strong>1a-1<\/strong>\u53ca<strong>1a-2<\/strong>)\u3001\u624b\u638c\u6a2a\u76b1(<strong>1a-1<\/strong>)\u3001\u6709\u8db3\u5e95\u8272\u7d20\u6c89\u7740\u8fc7\u5269\u5e76\u4f34\u6709\u5927\u800c\u5c0f\u7684\u811a(<strong>1a-3<\/strong>)<br><strong>1b<\/strong>)\u539f\u53d1\u8005\u7684\u7167\u7247\u663e\u793a\u4e86\u67d3\u8272\u4f532p\u7684\u81c2\u4e0a\u7684DNA\u62f7\u8d1d\u6570(log2\u6bd4)\u4ee5\u53ca\u548c\u7b49\u4f4d\u57fa\u56e0\u5cf0\u5256\u9762\uff0c\u7ea2\u6761\u8868\u793a2p16.3-p21\u7684\u95f4\u8d28\u7f3a\u5931(~4.8Mb)\u3002<br><strong>1c<\/strong>)\u663e\u793a\u4ee5\u524d\u62a5\u9053\u7684\u75c5\u4f8b\u4e2d\u53d1\u73b0\u7684\u8fde\u7eed\u57fa\u56e0\u7f3a\u5931\u76842\u53f7\u67d3\u8272\u4f53\u7684\u52a8\u753b<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"630\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/2p16-b.jpg\" alt=\"\" class=\"wp-image-18215\"\/><\/figure><\/div>\n\n\n<p><strong>\u56fe2<\/strong> \u60a3\u8005\u7684\u7ed3\u76f4\u80a0\u817a\u764c(a\u3001H&amp;E)\uff0c\u817a\u5f62\u6210\u6210\u5206(\u5de6\u4e0a)\u548c\u5b9e\u8d28\u6027\u6210\u5206\u663e\u793a\u51fa\u6df7\u5408\u7684\u7ec4\u7ec7\u5b66\u6a21\u5f0f\u3002\u5728\u514d\u75ab\u7ec4\u5316\u4e2d\uff0c\u80bf\u7624\u663e\u793a\u5b58\u5728PMS2(b)\u4ee5\u53caMLH1(\u56fe\u672a\u663e\u793a)\u7684\u6838\u67d3\u8272\uff0c\u4f46\u6ca1\u6709MSH2(c)\u4ee5\u53caMSH6(d)\u7684\u67d3\u8272\u3002\u8be5\u60a3\u8005\u7684\u524d\u5217\u817a\u817a\u764c\u663e\u793a\u51fa\u7ec4\u7ec7\u5b66\u4e0a\u5178\u578b\u7684\u817a\u4f53\u5355\u4f4d(e,H&amp;E)\u3002\u5728\u514d\u75ab\u7ec4\u5316\u68c0\u67e5\u4e2d\uff0c\u8fd9\u79cd\u524d\u5217\u817a\u764c\u8fd8\u663e\u793a\u5b58\u5728PMS2(f)\u4ee5\u53caMLH1(\u56fe\u672a\u663e\u793a)\u7684\u6838\u67d3\u8272\uff0c\u4f46\u6ca1\u6709MSH2(g)\u53caMSH6(h)\u7684\u67d3\u8272\u3002<\/p>\n<\/div><\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> \u542b\u67092p16p21\u9886\u57df\u7684\u7f3a\u5931\u62a5\u544a<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:10%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u53c2\u8003<\/th><th>\u5220\u9664<\/th><th>\u8868\u73b0\u578b\u7684\u8bf4\u660e<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>Petit and Fryns 1997<\/td>\n<td>2p11p21+Aseful<\/td>\n<td>\u8f7b\u5ea6\u7578\u5f62\u548c\u4e2d\u5ea6\u667a\u529b\u8fdf\u949d<\/td>\n<\/tr>\n<tr>\n<td>Saunders\u7b49 2003<\/td>\n<td>2p16.2p21<\/td>\n<td>\u5fc3\u623f\u95f4\u9694\u7f3a\u635f\u3001\u8f7b\u5ea6\u672b\u68a2\u529f\u80fd\u4f4e\u4e0b\u3001\u7a81\u51fa\u7684\u9f3b\u6881\u3001\u957f\u5f62\u5149\u6ed1\u7684\u4e2d\u6027\u7c92\u7ec6\u80de\u3001\u8f7b\u5ea6\u53d1\u80b2\u8fdf\u7f13<\/td>\n<\/tr>\n<tr>\n<td>Lucci-Cordisco\u7b49 2004<\/td>\n<td>2p16p21<\/td>\n<td>\u53d1\u80b2\u8fdf\u7f13\u3001\u6027\u65e9\u719f\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u8fd1\u7aef\u5934\u9aa8\u7a84\u3001\u7c97\u7709\u4f34\u6709\u5927\u773c\u775b\u3001\u9f3b\u5b54\u5f62\u6210\u4e0d\u5168\u4f34\u6709\u663e\u8457\u7684\u9f3b\u5c0f\u67f1\u3001\u77ed\u6bcd\u6307\u3001\u5355\u8033\u3001\u591a\u6bdb\u75c7\u3001\u5168\u8eab\u80a5\u80d6\u3001\u77ed\u6307\u75c7\u3001\u53cc\u4fa7\u7b2c2~\u7b2c3\u8dbe\u95f4\u76ae\u80a4\u5408\u6307\u75c7\u3001\u4e2d\u5ea6\u667a\u529b\u4f4e\u4e0b\u3001\u7ed3\u80a0\u817a\u764c(37\u5c81)<\/td>\n<\/tr>\n<tr>\n<td>Collins\u30fbSink2011<\/td>\n<td>2p16.3p21<\/td>\n<td>\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u5c0f\u5934\u7578\u5f62\u3001\u4e0b\u5934\u75c7\u300121\u5c81\u65f6\u7ed3\u80a0\u955c\u68c0\u67e5\u57fa\u672c\u6b63\u5e38(\u4ec5\u53d1\u73b0\u708e\u75c7\u6027\u5047\u6027\u606f\u8089)<\/td>\n<\/tr>\n<tr>\n<td>Morton\u7b49 2011<\/td>\n<td>17.6 Mb (SIX3, MSH2, and MSH6)<\/td>\n<td>\u80ce\u513f\u6709\u5168\u8111\u75be\u75c5<\/td>\n<\/tr>\n<tr>\n<td>Morton\u7b49 2011<\/td>\n<td>192 kb(MSH6\u53caFBX011)<\/td>\n<td>\u53d1\u80b2\u5ef6\u8fdf\u548c\u5f62\u6001\u5f02\u5e38\u7684\u7279\u75c7<\/td>\n<\/tr>\n<tr>\n<td>Morton\u7b49 2011<\/td>\n<td>537 kb(MSH6\u53caFBX011)<\/td>\n<td>\u53d1\u80b2\u8fdf\u7f13\u548c\u5f62\u6001\u5f02\u5e38\u7684\u7279\u75c7<\/td>\n<\/tr>\n<tr>\n<td>\u76ee\u524d\u62a5\u544a<\/td>\n<td>2p16.3p21(4.8Mb)<\/td>\n<td>\u667a\u529b\u969c\u788d\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u5934\u77ee\u62c7\u6307\u77ed\u5e76\u4f34\u6709\u77ed\u5934\u75c7\u3001\u77ed\u6307\u75c7\u3001\u811a\u638c\u8272\u7d20\u6c89\u7740\u8fc7\u5ea6\u4f34\u6709\u5bbd\u800c\u5c0f\u7684\u811a<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88682<\/strong> \u5bf9\u5f53\u524d\u60a3\u8005\u5177\u6709\u6f5c\u5728\u533b\u5b66\u610f\u4e49\u7684\u7279\u5b9a\u57fa\u56e0<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:10%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u7f3a\u5931\u57fa\u56e0<\/th>\n<th>HGNC(HUGO\u57fa\u56e0\u547d\u540d\u59d4\u5458\u4f1a)ID\u53f7<\/th>\n<th>\u76f8\u5173\u8868\u578b<\/th>\n<th>\u5728\u5f53\u524d\u75c5\u4eba\u4e2d\u8868\u73b0\u7684\u8868\u578b<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>EPAS1<\/td>\n<td>3374<\/td>\n<td>\u7ea2\u7ec6\u80de\u589e\u591a\u75c7\u5bb6\u65cf\u60274\u578b(\u901a\u5e38\u4e0e\u6fc0\u6d3b\u6027\u7a81\u53d8\u6709\u5173)<\/td>\n<td>\u65e0<\/td>\n<\/tr>\n<tr>\n<td>CRIPT<\/td>\n<td>14312<\/td>\n<td>\u4ea7\u540e\u751f\u957f\u8fdf\u7f13\u3001\u5c0f\u5934\u7578\u5f62\u3001\u9762\u90e8\u7578\u5f62\u3001\u773c\u775b\u5f02\u5e38\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u53cd\u590d\u611f\u67d3\u75c7\u3001\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u7f3a\u9677<\/td>\n<td>\u4ea7\u540e\u751f\u957f\u8fdf\u7f13\u3001\u9762\u90e8\u7578\u5f62\u3001\u773c\u775b\u5f02\u5e38\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u7f3a\u9677<\/td>\n<\/tr>\n<tr>\n<td>MCFD2<\/td>\n<td>18451<\/td>\n<td>\u7b2cV\u56e0\u5b50\u53ca\u7b2cVIII\u56e0\u5b50\u590d\u5408\u4f53\u7f3a\u4e4f\u75c7<\/td>\n<td>\u65e0<\/td>\n<\/tr>\n<tr>\n<td>TTC7A<\/td>\n<td>19750<\/td>\n<td>\u65e9\u671f\u53d1\u75c5\u7684\u708e\u75c7\u6027\u80a0\u75c5\u548c\u80a0\u6897\u963b<\/td>\n<td>\u65e0<\/td>\n<\/tr>\n<tr>\n<td>CALM2<\/td>\n<td>1445<\/td>\n<td>QT\u5ef6\u957f\u7efc\u5408\u75c7<\/td>\n<td>\u65e0<\/td>\n<\/tr>\n<tr>\n<td>EPCAM\u3001MSH2\u3001MSH6<\/td>\n<td>1152973257329<\/td>\n<td>\u6797\u5947\u7efc\u5408\u75c7<\/td>\n<td>\u6797\u5947\u7efc\u5408\u75c7\u75c7\u7ed3\u80a0\u764c\u548c\u524d\u5217\u817a\u764c<\/td>\n<\/tr>\n<tr>\n<td>LHCGR<\/td>\n<td>6585<\/td>\n<td>\u7537\u6027\u7b2c\u4e8c\u6027\u75c7\u53d1\u80b2\u969c\u788d<\/td>\n<td>\u6ca1\u6709\u7ecf\u8fc7\u6211\u4eec\u7684\u670d\u52a1\u8bc4\u4f30\u3002<\/td>\n<\/tr>\n<tr>\n<td>NRXN1<\/td>\n<td>8008<\/td>\n<td>\u76ae\u7279\u30fb\u970d\u666e\u91d1\u65af\u6837\u7efc\u5408\u75c72<\/td>\n<td>\u667a\u529b\u6b8b\u75be\u3001\u7cbe\u795e\u8fd0\u52a8\u8fdf\u7f13\u3001\u8a00\u8bed\u6709\u9650\u3001\u6c9f\u901a\u548c\u793e\u4ea4\u56f0\u96be\u3001\u7709\u6bdb\u7a00\u758f\u3001\u9f3b\u5b50\u7a81\u51fa\u3001\u5634\u5df4\u5bbd\u5927\u3001\u8033\u6735\u539a\u5b9e\u3001\u5fae\u7b11\u6216\u5927\u7b11\u3001\u624b\u90e8\u6325\u821e\u52a8\u4f5c\u591a\u3001\u5feb\u4e50\u548c\u5174\u594b\u6001\u5ea6\u3001\u659c\u89c6\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u624b\u548c\u811a\u5c0f\u3001\u6241\u5e73\u8db3\u3001\u624b\u8db3\u5f02\u5e38\u7684\u8089\u8d28\u6307\u5c16<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"Erin E. Salo-Mullen,&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[251],"tags":[326,323,332],"class_list":["post-46788","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-326","tag-323","tag-332"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46788","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=46788"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46788\/revisions"}],"predecessor-version":[{"id":118308,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46788\/revisions\/118308"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=46788"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=46788"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=46788"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}