{"id":3769,"date":"2014-09-20T12:19:48","date_gmt":"2014-09-20T04:19:48","guid":{"rendered":"http:\/\/wp.kmu.edu.tw\/schoolmag\/?p=3769"},"modified":"2014-12-12T10:44:54","modified_gmt":"2014-12-12T02:44:54","slug":"%e6%b8%ac%e5%ae%9asmn%e5%9f%ba%e5%9b%a0%e7%99%bc%e7%94%9f%e5%9f%ba%e5%9b%a0%e8%bd%89%e7%a7%bb%e6%88%96%e7%aa%81%e8%ae%8a%e7%9a%84%e6%96%b9%e6%b3%95","status":"publish","type":"post","link":"https:\/\/wp.kmu.edu.tw\/schoolmag\/2014\/09\/20\/%e6%b8%ac%e5%ae%9asmn%e5%9f%ba%e5%9b%a0%e7%99%bc%e7%94%9f%e5%9f%ba%e5%9b%a0%e8%bd%89%e7%a7%bb%e6%88%96%e7%aa%81%e8%ae%8a%e7%9a%84%e6%96%b9%e6%b3%95\/","title":{"rendered":"\u6e2c\u5b9aSMN\u57fa\u56e0\u767c\u751f\u57fa\u56e0\u8f49\u79fb\u6216\u7a81\u8b8a\u7684\u65b9\u6cd5"},"content":{"rendered":"<p style=\"text-align: right\"><strong>\u9999\u7ca7\u54c1\u5b78\u7cfb\u00a0 \u5433\u79c0\u6885\u4e3b\u4efb<\/strong><\/p>\n<p style=\"text-align: left\"><a href=\"http:\/\/wp.kmu.edu.tw\/schoolmag\/files\/2014\/10\/43-18.pdf\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-4451\" src=\"http:\/\/wp.kmu.edu.tw\/schoolmag\/files\/2014\/10\/btn_pdf.jpg\" alt=\"btn_pdf\" width=\"32\" height=\"32\" \/><\/a><\/p>\n<p>\u672c\u767c\u660e\u4e4b\u69cb\u60f3\u6e90\u81ea\u64ec\u89e3\u6c7a\u81e8\u5e8a\u8a3a\u65b7\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7(spinal muscular atrophy, SMA)\u4e4b\u56f0\u96e3\u3002\u6b64\u75be\u75c5\u70ba\u767c\u751f\u983b\u7387\u76f8\u7576\u9ad8\u7684\u96b1\u6027\u907a\u50b3\u75be\u75c5\uff0c\u76ee\u524d\u5c1a\u7121\u6709\u6548\u6cbb\u7642\u65b9\u6cd5\uff0c\u50c5\u4f9d\u8cf4\u6b63\u78ba\u7684\u65e9\u671f\u57fa\u56e0\u8a3a\u65b7\uff0c\u505a\u597d\u512a\u751f\u4fdd\u5065\u7684\u9810\u9632\u5de5\u4f5c\u3002\u6b64\u75be\u75c5\u4e4b\u63a7\u5236\u57fa\u56e0\u5206\u62102\u578b\uff1a<em>SMN1<\/em>\u548c<em>SMN2<\/em>\u3002\u5176\u4e2d\u50c5<em>SMN1<\/em>\u57fa\u56e0\u53ef\u88fd\u9020\u51fa\u5b8c\u6574\u529f\u80fd\u7684\u86cb\u767d\u8cea\uff0c<em>SMN2<\/em>\u57fa\u56e0\u5247\u5426\uff0c\u7136\u800c<em>SMN2<\/em>\u542b\u91cf\u591a\u5be1\u537b\u6703\u5f71\u97ff\u75be\u75c5\u7684\u56b4\u91cd\u7a0b\u5ea6\uff0c\u56e0\u6b64\u76ee\u524d\u81e8\u5e8a\u8a3a\u65b7\u6b64\u4e26\u7686\u4ee5\u5b9a\u91cf<em>SMN1\/SMN2<\/em> \u57fa\u56e0\u70ba\u4e3b\uff0c\u4f46\u4f9d\u64da\u81e8\u5e8a\u8b49\u64da\uff0c\u4e00\u90e8\u5206\u4e4bSMA\u75c5\u4eba\u70ba<em>SMN<\/em>\u57fa\u56e0\u4e0a\u4e4bexons\u5177\u6709\u7a81\u8b8a\u6216\u5e8f\u5217\u5dee\u7570\u6240\u81f4\uff0c\u56e0\u6b64\u50c5\u5b9a\u91cf\u5206\u6790<em>SMN1\/SMN2<\/em>\uff0c\u5e38\u6703\u51fa\u73fe\u8aa4\u8a3a\u7684\u6848\u4f8b\u3002\u57fa\u65bc\u4ee5\u4e0a\u4e4b\u539f\u56e0\uff0c\u6211\u5011\u4fbf\u5efa\u7acb\u4e00\u53ef\u540c\u6642\u5206\u6790<em>SMN<\/em>\u57fa\u56e0\u4e0a\u6240\u6709exon\u7247\u6bb5(exon 1, 2a, 2b, 3, 4, 5, 6, 7, 8)\u4e4b\u65b9\u6cd5\uff0c\u4e0d\u50c5\u53ef\u5b9a\u91cf\u5206\u6790<em>SMN1\/SMN2<\/em>\u57fa\u56e0\uff0c\u4e26\u4e14\u540c\u6642\u5075\u6e2c\u6240\u6709exons\u7247\u6bb5\u662f\u5426\u5177\u6709\u7a81\u8b8a\uff0c\u5c0d\u81e8\u5e8a\u8a3a\u65b7SMA\u63d0\u4f9b\u66f4\u6e96\u78ba\u4e14\u66f4\u5168\u9762\u7684\u57fa\u56e0\u8a0a\u606f\u3002<\/p>\n<p>\u7531\u65bc\u6b64\u75be\u75c5\u4e4b\u5e36\u56e0\u8005\u6bd4\u7387\u751a\u9ad8(1\/40-1\/50)\uff0c\u800c\u76ee\u524d\u5927\u773e\u5df2\u76f8\u7576\u91cd\u8996\u65e9\u671f\u7684\u57fa\u56e0\u8a3a\u65b7\uff0c\u4e0d\u50c5\u6709\u8a31\u591a\u5927\u91ab\u9662\u6709\u57fa\u56e0\u6aa2\u6e2c\u7684\u670d\u52d9\uff0c\u4ea6\u6709\u8a31\u591a\u5927\u578b\u7684\u57fa\u56e0\u6aa2\u6e2c\u516c\u53f8\u70ba\u5927\u773e\u63d0\u4f9b\u76f8\u95dc\u57fa\u56e0\u8a0a\u606f\uff0c\u56e0\u6b64\u57fa\u56e0\u6aa2\u6e2c\u7684\u5e02\u5834\u4e0d\u50c5\u65bc\u570b\u5167\uff0c\u751a\u81f3\u65bc\u570b\u5916\u7686\u6709\u65e5\u76ca\u6210\u9577\u7684\u7522\u503c\u3002\u800c\u672c\u6cd5\u5c0d\u65bc\u5a5a\u524d\u5065\u5eb7\u6aa2\u67e5\u53ca\u6b32\u5b55\u80b2\u65b0\u751f\u5152\u4e4b\u65cf\u7fa4\uff0c\u80fd\u63d0\u4f9bSMA\u75be\u75c5\u76f8\u95dc\u57fa\u56e0\u4e4b\u5168\u9762\u4e14\u6e96\u78ba\u7684\u7be9\u6aa2\uff0c\u76ee\u524d\u5927\u773e\u5c0d\u65bcSMA\u75be\u75c5\u4e4b\u57fa\u56e0\u7be9\u6aa2\u5df2\u76f8\u7576\u666e\u53ca\uff0c\u800c\u6b64\u6280\u8853\u4e0d\u50c5\u5b9a\u91cf<em>SMN1\/SMN2<\/em>\u57fa\u56e0\u4e14\u540c\u6642\u5075\u6e2c<em>SMN<\/em>\u57fa\u56e0\u4e0a\u4e4b\u6240\u6709exons\u662f\u5426\u5177\u6709\u7a81\u8b8a\uff0c\u76f8\u5c0d\u65bc\u76ee\u524d\u81e8\u5e8a\u50c5\u5206\u6790exon 7\u4e0a\u7684<em>SMN1\/SMN2<\/em>\u4e4b\u8a3a\u65b7\u65b9\u6cd5\uff0c\u672c\u6cd5\u53ef\u63d0\u4f9b\u66f4\u5168\u9762\u7684\u57fa\u56e0\u8a0a\u606f\u7d66\u6d88\u8cbb\u8005\uff0c\u5c0d\u512a\u751f\u4fdd\u5065\u505a\u66f4\u56b4\u683c\u7684\u628a\u95dc\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u9999\u7ca7\u54c1\u5b78\u7cfb\u00a0 \u5433\u79c0\u6885\u4e3b\u4efb \u672c\u767c\u660e\u4e4b\u69cb\u60f3\u6e90\u81ea\u64ec\u89e3\u6c7a\u81e8\u5e8a\u8a3a\u65b7\u810a\u9ad3\u808c\u8089\u840e\u7e2e\u75c7(spinal muscular atr &hellip; 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