{"id":84254,"date":"2024-11-15T15:57:49","date_gmt":"2024-11-15T06:57:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/"},"modified":"2025-10-10T18:01:13","modified_gmt":"2025-10-10T09:01:13","slug":"17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans","title":{"rendered":"17p12 \u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8153\u9aa8\u808c\u840e\u7f29\u75c7 1A \u578b\uff09"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#1%E3%80%81%E5%8F%91%E7%97%85%E5%8E%9F%E5%9B%A0\" >1\u3001\u53d1\u75c5\u539f\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#2_%E7%97%87%E7%8A%B6\" >2. \u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#3_%E6%B2%BB%E7%96%97\" >3. \u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#4_%E9%A2%84%E5%90%8E\" >4. \u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#5_%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85\" >5. \u7236\u6bcd\u7684\u8d1f\u62c5<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1%E3%80%81%E5%8F%91%E7%97%85%E5%8E%9F%E5%9B%A0\"><\/span>1\u3001\u53d1\u75c5\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>17p12 \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u7531\u4f4d\u4e8e 17 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2 (17p12) \u4e0a\u7684\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u3002\u8be5\u57fa\u56e0\u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4\u5468\u56f4\u795e\u7ecf\u5f02\u5e38\uff0c\u5e76\u5df2\u77e5\u4f1a\u5bfc\u81f4 1A \u578b\u8153\u9aa8\u808c\u840e\u7f29\u75c7 (CMT1A)\u3002\u795e\u7ecf\u4f20\u5bfc\u901f\u5ea6\u964d\u4f4e\uff0c\u5bfc\u81f4\u808c\u8089\u529b\u91cf\u548c\u611f\u89c9\u5f02\u5e38\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%97%87%E7%8A%B6\"><\/span>2. \u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u808c\u8089\u65e0\u529b<\/strong>\uff1a\u53ef\u80fd\u4f1a\u51fa\u73b0\u808c\u8089\u65e0\u529b\uff0c\u4e3b\u8981\u53d1\u751f\u5728\u4e0b\u80a2\uff0c\u5bfc\u81f4\u884c\u8d70\u56f0\u96be\u3002<\/li>\n\n\n\n<li><strong>\u611f\u89c9\u5f02\u5e38<\/strong>\uff1a\u60a8\u7684\u624b\u811a\u53ef\u80fd\u4f1a\u611f\u5230\u9ebb\u6728\u6216\u611f\u89c9\u5f02\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u90e8\u7578\u5f62<\/strong>\uff1a\u53ef\u80fd\u5b58\u5728\u8db3\u90e8\u7578\u5f62\uff0c\u5982\u9ad8\u8db3\u5f13\u548c\u9524\u72b6\u8dbe\u3002<\/li>\n\n\n\n<li><strong>\u8fd0\u52a8\u56f0\u96be<\/strong>\uff1a\u7cbe\u7ec6\u8fd0\u52a8\u548c\u624b\u90e8\u8fd0\u52a8\u53ef\u80fd\u4f1a\u53d7\u5230\u5f71\u54cd\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%B2%BB%E7%96%97\"><\/span>3. \u6cbb\u7597<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7269\u7406\u6cbb\u7597<\/strong>\uff1a\u7269\u7406\u6cbb\u7597\u7528\u4e8e\u7ef4\u6301\u808c\u8089\u529b\u91cf\u548c\u652f\u6301\u8fd0\u52a8\u529f\u80fd\u3002<\/li>\n\n\n\n<li><strong>\u77eb\u5f62\u5668\u7684\u4f7f\u7528<\/strong>\uff1a \u77eb\u5f62\u5668\u6216\u652f\u67b6\u53ef\u7528\u4e8e\u8f85\u52a9\u884c\u8d70\u3002<\/li>\n\n\n\n<li><strong>\u624b\u672f\u5e72\u9884<\/strong>\uff1a\u53ef\u4ee5\u8fdb\u884c\u624b\u672f\u6765\u77eb\u6b63\u7578\u5f62\u7684\u811a\u6216\u624b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%A2%84%E5%90%8E\"><\/span>4. \u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5c3d\u7ba1\u5b83\u662f\u4e00\u79cd\u8fdb\u884c\u6027\u75be\u75c5\uff0c\u4f46\u901a\u8fc7\u9002\u5f53\u7684\u7ba1\u7406\u548c\u652f\u6301\uff0c\u75c7\u72b6\u53ef\u4ee5\u51cf\u8f7b\uff0c\u60a8\u53ef\u4ee5\u8fc7\u4e0a\u66f4\u597d\u7684\u751f\u6d3b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85\"><\/span>5. \u7236\u6bcd\u7684\u8d1f\u62c5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6240\u9700\u7684\u957f\u671f\u7269\u7406\u6cbb\u7597\u548c\u77eb\u5f62\u5668\u7ba1\u7406\u4f1a\u7ed9\u5bb6\u5ead\u5e26\u6765\u6c89\u91cd\u7684\u8d1f\u62c5\u3002\u4e0e\u652f\u6301\u5c0f\u7ec4\u548c\u533b\u7597\u56e2\u961f\u5408\u4f5c\u4e3a\u60a3\u8005\u63d0\u4f9b\u652f\u6301\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n","protected":false},"excerpt":{"rendered":"1\u3001\u53d1\u75c5\u539f\u56e0 17p12 \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u7531&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":84934,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-84254","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84254","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=84254"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84254\/revisions"}],"predecessor-version":[{"id":117900,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84254\/revisions\/117900"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/84934"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84254"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84254"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84254"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}