{"id":3004,"date":"2026-09-02T09:22:33","date_gmt":"2026-09-02T06:22:33","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=3004"},"modified":"2026-07-28T11:23:39","modified_gmt":"2026-07-28T08:23:39","slug":"what-is-exon-deletion-in-duchenne-muscular-dystrophy-dmd","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/zh\/what-is-exon-deletion-in-duchenne-muscular-dystrophy-dmd\/","title":{"rendered":"\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u4e86\u89e3\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b50\u7f3a\u5931"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u5b83\u4e3a\u4f55\u4e0e\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u6709\u5173\uff1f <\/strong>\u5916\u663e\u5b50\u7f3a\u5931\u662f\u6307\u57fa\u56e0\u4e2d\u4e00\u4e2a\u6216\u591a\u4e2a\u7247\u6bb5\u7f3a\u5931\uff0c\u8fd9\u53ef\u80fd\u4f1a\u5f71\u54cd\u4eba\u4f53\u5408\u6210\u5fc5\u9700\u86cb\u767d\u8d28\u7684\u65b9\u5f0f\u3002\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u4e2d\uff0c\u8fd9\u4e9b\u7f3a\u5931\u53d1\u751f\u5728DMD\u57fa\u56e0\u4e2d\uff0c\u8be5\u57fa\u56e0\u5305\u542b\u5408\u6210\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u6307\u4ee4\u3002\u4e86\u89e3\u5177\u4f53\u7684\u7f3a\u5931\u5916\u663e\u5b50\u6709\u52a9\u4e8e\u60a3\u8005\u5bb6\u5ead\u66f4\u597d\u5730\u7406\u89e3\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u3001\u6f5c\u5728\u7684\u6cbb\u7597\u65b9\u6848\u4ee5\u53ca\u8fd9\u79cd\u7a81\u53d8\u53ef\u80fd\u5e26\u6765\u7684\u5f71\u54cd\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u4e00\u79cd\u57fa\u56e0\u6539\u53d8\uff0c\u5176\u4e2d\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\uff08\u57fa\u56e0\u4e2d\u8d1f\u8d23\u7f16\u7801\u86cb\u767d\u8d28\u7684\u7247\u6bb5\uff09\u4ece DNA \u4e2d\u7f3a\u5931\u3002. <strong>\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\uff0c\u5916\u663e\u5b50\u7f3a\u5931\u901a\u5e38\u4f1a\u5f71\u54cd DMD \u57fa\u56e0\uff0c\u8be5\u57fa\u56e0\u63d0\u4f9b\u4ea7\u751f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u6307\u4ee4\uff0c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u662f\u7ef4\u6301\u808c\u8089\u5065\u5eb7\u529f\u80fd\u6240\u5fc5\u9700\u7684\u86cb\u767d\u8d28\u3002.<\/strong> \u9605\u8bfb\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/dystrophin-gene\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD\u57fa\u56e0<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e86\u89e3\u5177\u4f53\u7f3a\u5931\u7684\u5916\u663e\u5b50\u81f3\u5173\u91cd\u8981\uff0c\u56e0\u4e3a\u7f3a\u5931\u7684\u4f4d\u7f6e\u548c\u5927\u5c0f\u4f1a\u5f71\u54cd\u57fa\u56e0\u6307\u4ee4\u7684\u8bfb\u53d6\u65b9\u5f0f\uff0c\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u8fd8\u4f1a\u5f71\u54cd\u4e2a\u4f53\u662f\u5426\u9002\u5408\u63a5\u53d7\u9488\u5bf9\u7279\u5b9a\u7a81\u53d8\u7684\u6cbb\u7597\u65b9\u6848\u3002\u9605\u8bfb\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-duchenne\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4ec0\u4e48\u662f\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff1f<\/a><\/p>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u76ee\u5f55<\/h2><nav><ul><li><a href=\"#what-is-an-exon\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\uff1f<\/a><ul><li><a href=\"#what-happens-when-an-exon-is-missing\">\u5f53\u4e00\u4e2a\u5916\u663e\u5b50\u7f3a\u5931\u65f6\u4f1a\u53d1\u751f\u4ec0\u4e48\uff1f<\/a><\/li><li><a href=\"#what-does-exon-deletion-mean-in-dmd\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b50\u7f3a\u5931\u662f\u4ec0\u4e48\uff1f<\/a><\/li><li><a href=\"#why-does-the-location-of-the-deletion-matter\">\u4e3a\u4ec0\u4e48\u5220\u9664\u4f4d\u7f6e\u5f88\u91cd\u8981\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#what-is-the-dmd-gene-and-why-is-it-important\">\u4ec0\u4e48\u662fDMD\u57fa\u56e0\uff1f\u5b83\u4e3a\u4ec0\u4e48\u5982\u6b64\u91cd\u8981\uff1f<\/a><ul><li><a href=\"#how-does-an-exon-deletion-affect-dystrophin\">\u5916\u663e\u5b50\u7f3a\u5931\u5982\u4f55\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#how-are-exon-deletions-detected\">\u5982\u4f55\u68c0\u6d4b\u5916\u663e\u5b50\u7f3a\u5931\uff1f<\/a><ul><li><a href=\"#what-does-a-genetic-test-result-look-like\">\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u957f\u4ec0\u4e48\u6837\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#exon-deletion-vs-exon-duplication\">\u5916\u663e\u5b50\u7f3a\u5931\u4e0e\u5916\u663e\u5b50\u91cd\u590d<\/a><\/li><li><a href=\"#what-is-the-connection-between-exon-deletion-and-exon-skipping\">\u5916\u663e\u5b50\u7f3a\u5931\u548c\u5916\u663e\u5b50\u8df3\u8dc3\u4e4b\u95f4\u6709\u4ec0\u4e48\u8054\u7cfb\uff1f<\/a><ul><li><a href=\"#can-exon-skipping-correct-every-exon-deletion\">\u5916\u663e\u5b50\u8df3\u8dc3\u80fd\u5426\u7ea0\u6b63\u6240\u6709\u5916\u663e\u5b50\u7f3a\u5931\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#does-an-exon-deletion-mean-a-child-has-duchenne\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u5426\u610f\u5473\u7740\u5b69\u5b50\u60a3\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff1f<\/a><\/li><li><a href=\"#why-knowing-the-exact-exon-deletion-matters\">\u4e3a\u4ec0\u4e48\u51c6\u786e\u4e86\u89e3\u5916\u663e\u5b50\u7f3a\u5931\u81f3\u5173\u91cd\u8981<\/a><\/li><li><a href=\"#frequently-asked-questions-about-exon-deletion\">\u5173\u4e8e\u5916\u663e\u5b50\u7f3a\u5931\u7684\u5e38\u89c1\u95ee\u9898<\/a><ul><li><a href=\"#faq-question-1788263163433\">\u5916\u663e\u5b50\u7f3a\u5931\u548c\u57fa\u56e0\u7f3a\u5931\u662f\u4e00\u6837\u7684\u5417\uff1f<\/a><\/li><li><a href=\"#faq-question-1788263188487\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u9057\u4f20\u7684\u5417\uff1f<\/a><\/li><li><a href=\"#faq-question-1788263198271\">\u5916\u663e\u5b50\u7f3a\u5931\u4f1a\u5bfc\u81f4\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u5417\uff1f<\/a><\/li><li><a href=\"#faq-question-1788263207327\">\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u4ee5\u6cbb\u7597\u5417\uff1f<\/a><\/li><li><a href=\"#faq-question-1788263216749\">\u5728\u54ea\u91cc\u53ef\u4ee5\u627e\u5230\u6211\u5b69\u5b50\u7684\u57fa\u56e0\u5916\u663e\u5b50\u7f3a\u5931\u4fe1\u606f\uff1f<\/a><\/li><\/ul><\/li><li><a href=\"#conclusion\">\u7ed3\u8bba<\/a><\/li><li><a href=\"#academic-sources-references\">\u5b66\u672f\u8d44\u6e90\u4e0e\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 id=\"what-is-an-exon\" class=\"wp-block-heading\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50\u662f\u57fa\u56e0\u7684\u4e00\u90e8\u5206\uff0c\u5b83\u5728 RNA \u52a0\u5de5\u540e\u4fdd\u7559\u5728\u6210\u719f\u7684\u4fe1\u4f7f RNA (mRNA) \u4e2d\uff0c\u5e76\u53c2\u4e0e\u6784\u6210\u7528\u4e8e\u4ea7\u751f\u86cb\u767d\u8d28\u7684\u6307\u4ee4\u3002.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"435\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg\" alt=\"dmd \u57fa\u56e0\u5916\u663e\u5b50\u6570\u76ee\" class=\"wp-image-1439\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1024x435.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-300x128.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-768x326.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-1536x653.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons-18x8.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/dmd-gen-exons.jpg 2000w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f60\u53ef\u4ee5\u628a\u57fa\u56e0\u60f3\u8c61\u6210\u4e00\u672c\u957f\u957f\u7684\u4f7f\u7528\u8bf4\u660e\u4e66\uff0c\u5b83\u88ab\u5206\u6210\u82e5\u5e72\u4e2a\u7f16\u53f7\u7684\u7ae0\u8282\u3002. <strong>DMD \u57fa\u56e0\u5305\u542b 79 \u4e2a\u5916\u663e\u5b50\uff0c\u5b83\u4eec\u5171\u540c\u4f5c\u7528\uff0c\u63d0\u4f9b\u4ea7\u751f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u6307\u4ee4\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6709\u52a9\u4e8e\u5728\u808c\u8089\u6536\u7f29\u8fc7\u7a0b\u4e2d\u7a33\u5b9a\u808c\u7ea4\u7ef4\u3002\u5f53DMD\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\uff0c\u5bfc\u81f4\u8eab\u4f53\u65e0\u6cd5\u4ea7\u751f\u8db3\u591f\u7684\u6d3b\u6027\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u65f6\uff0c\u808c\u8089\u7ec6\u80de\u5c31\u4f1a\u9010\u6e10\u53d8\u5f97\u5bb9\u6613\u53d7\u635f\u3002.<\/p>\n\n\n\n<h3 id=\"what-happens-when-an-exon-is-missing\" class=\"wp-block-heading\">\u5f53\u4e00\u4e2a\u5916\u663e\u5b50\u7f3a\u5931\u65f6\u4f1a\u53d1\u751f\u4ec0\u4e48\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u7531\u4e8e\u57fa\u56e0\u7a81\u53d8\uff0c\u5916\u663e\u5b50\u53ef\u80fd\u5b8c\u5168\u6216\u90e8\u5206\u7f3a\u5931\u3002\u5f53DMD\u57fa\u56e0\u4e2d\u7f3a\u5931\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u65f6\uff0c\u5269\u4f59\u7684\u57fa\u56e0\u5e8f\u5217\u53ef\u80fd\u65e0\u6cd5\u88ab\u6b63\u786e\u8bfb\u53d6\u3002.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"435\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1024x435.jpg\" alt=\"\" class=\"wp-image-1451\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1024x435.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-300x128.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-768x326.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-1536x653.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1-18x8.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1.jpg 2000w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">\u672c\u4f8b\u5047\u8bbe\u5220\u9664\u4e86\u5916\u663e\u5b50 43\u3002\u53ef\u4ee5\u770b\u5230\uff0c\u5220\u9664\u5916\u663e\u5b50 43 \u540e\uff0c\u5916\u663e\u5b50 42 \u548c 44 \u5c31\u65e0\u6cd5\u76f8\u4e92\u8fde\u63a5\u3002<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5173\u952e\u95ee\u9898\u662f\uff0c\u8fd9\u79cd\u5220\u9664\u662f\u5426\u4f1a\u7834\u574f\u9605\u8bfb\u6846\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u56e0\u6b64\uff0c\u4ec5\u4ec5\u77e5\u9053\u67d0\u4e2a\u5916\u663e\u5b50\u7f3a\u5931\u5e76\u4e0d\u603b\u662f\u8db3\u4ee5\u7406\u89e3\u5176\u4e34\u5e8a\u610f\u4e49\u3002\u9700\u8981\u8003\u8651\u5177\u4f53\u7684\u7f3a\u5931\u60c5\u51b5\uff0c\u4f8b\u5982\u5916\u663e\u5b5045\u7f3a\u5931\u6216\u5916\u663e\u5b5046-50\u7f3a\u5931\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/duchenne-exon-deletion-tool\/exon-46-50-deletion\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD \u5916\u663e\u5b50 46-50 \u7f3a\u5931<\/a><\/p>\n\n\n\n<h3 id=\"what-does-exon-deletion-mean-in-dmd\" class=\"wp-block-heading\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b50\u7f3a\u5931\u662f\u4ec0\u4e48\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e2d\u7684\u5916\u663e\u5b50\u7f3a\u5931\u662f\u6307 DMD \u57fa\u56e0\u53d1\u751f\u7a81\u53d8\uff0c\u5bfc\u81f4\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u7f3a\u5931\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD\u662f\u7531X\u67d3\u8272\u4f53\u4e0aDMD\u57fa\u56e0\u7684\u81f4\u75c5\u53d8\u5f02\u5f15\u8d77\u7684\u3002\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u7684\u7f3a\u5931\u662fDMD\u7a81\u53d8\u4e2d\u6700\u5e38\u89c1\u7684\u7c7b\u578b\u4e4b\u4e00\u3002.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"91\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1024x91.jpg\" alt=\"\" class=\"wp-image-1447\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1024x91.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-300x27.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-768x68.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-1536x137.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44-18x2.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-39-44.jpg 1897w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b\u5982\uff0c\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u663e\u793a\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u663e\u5b5045\u7f3a\u5931<\/strong><\/li>\n\n\n\n<li><strong>\u5220\u9664\u5916\u663e\u5b5045-47<\/strong><\/li>\n\n\n\n<li><strong>\u5916\u663e\u5b5045-50\u7684\u7f3a\u5931<\/strong><\/li>\n\n\n\n<li><strong>\u5220\u9664\u5916\u663e\u5b5051-52<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u4e9b\u7ed3\u679c\u63cf\u8ff0\u4e86DMD\u57fa\u56e0\u7f3a\u5931\u7684\u54ea\u4e9b\u90e8\u5206\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u6307\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u4e2d\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u4e22\u5931\u7684\u8fc7\u7a0b\uff0c\u4ece\u800c\u5bfc\u81f4\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u53d8\u77ed\u6216\u4e0d\u5b8c\u6574\u3002\u8fd9\u79cd\u60c5\u51b5\u6709\u591a\u79cd\u53d1\u751f\u65b9\u5f0f\uff0c\u5305\u62ec\u57fa\u56e0\u7684\u6574\u4e2a\u90e8\u5206\u4e22\u5931\u7684\u5927\u7247\u6bb5\u7f3a\u5931\uff0c\u6216\u4ec5\u5220\u9664\u4e00\u4e2a\u5916\u663e\u5b50\u6216\u51e0\u4e2a\u5916\u663e\u5b50\u7684\u8f83\u5c0f\u7247\u6bb5\u7f3a\u5931\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"91\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1024x91.jpg\" alt=\"\" class=\"wp-image-1450\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1024x91.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-300x27.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-768x68.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-1536x137.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion-18x2.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2024\/10\/exon-43-deletion.jpg 1897w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u5f53\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u4e2d\u7684\u5916\u663e\u5b50\u88ab\u5220\u9664\u65f6\uff0c\u8be5\u57fa\u56e0\u4ea7\u751f\u7684 mRNA \u5c31\u4f1a\u5f02\u5e38\u3002\u8fd9\u79cd\u5f02\u5e38\u7684 mRNA \u5c06\u5bfc\u81f4\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u622a\u77ed\u6216\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5b8c\u5168\u7f3a\u5931\u3002\u7531\u4e8e\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5bf9\u4e8e\u6b63\u5e38\u7684\u808c\u8089\u529f\u80fd\u81f3\u5173\u91cd\u8981\uff0c\u56e0\u6b64\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4 DMD \u60a3\u8005\u51fa\u73b0\u6e10\u8fdb\u6027\u808c\u8089\u65e0\u529b\u548c\u9000\u5316\u3002<\/p>\n\n\n\n<h3 id=\"why-does-the-location-of-the-deletion-matter\" class=\"wp-block-heading\">\u4e3a\u4ec0\u4e48\u5220\u9664\u4f4d\u7f6e\u5f88\u91cd\u8981\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u7f3a\u5931\u7684\u4f4d\u7f6e\u4f1a\u5f71\u54cd\u5269\u4f59\u5916\u663e\u5b50\u7684\u8fde\u63a5\u65b9\u5f0f\u4ee5\u53ca\u57fa\u56e0\u9605\u8bfb\u6846\u662f\u5426\u5f97\u4ee5\u7ef4\u6301\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u79cd\u533a\u522b\u901a\u5e38\u88ab\u63cf\u8ff0\u4e3a\uff1a<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u6846\u5185\u5220\u9664\uff1a<\/strong> \u9605\u8bfb\u6846\u5b8c\u597d\u65e0\u635f\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u753b\u9762\u5916\u5220\u9664\uff1a<\/strong> \u9605\u8bfb\u6846\u67b6\u88ab\u6253\u65ad\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u65e2\u5b9a\u7684\u57fa\u56e0\u68c0\u6d4b\u6307\u5357\u5f3a\u8c03\u4e86\u5728\u89e3\u8bfb\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u548c\u8d1d\u514b\u5c14\u808c\u8425\u517b\u4e0d\u826f\u75c7 (BMD) \u53d8\u5f02\u65f6\uff0c\u9605\u8bfb\u6846\u7684\u91cd\u8981\u6027\u3002\u4e00\u822c\u6765\u8bf4\uff0c\u79fb\u7801\u7f3a\u5931\u4e0e DMD \u8868\u578b\u7684\u76f8\u5173\u6027\u66f4\u5f3a\uff0c\u800c\u6846\u5185\u7f3a\u5931\u5219\u66f4\u5e38\u4e0e\u8f83\u8f7b\u7684 BMD \u8868\u578b\u76f8\u5173\u3002\u7136\u800c\uff0c\u8fd9\u53ea\u662f\u4e00\u6761\u666e\u904d\u89c4\u5f8b\uff0c\u5e76\u975e\u9002\u7528\u4e8e\u6240\u6709\u4e2a\u4f53\u7684\u7edd\u5bf9\u9884\u6d4b\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/differences-between-dmd-and-bmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 vs. \u8d1d\u514b\u5c14\u808c\u8425\u517b\u4e0d\u826f\u75c7<\/a><\/p>\n\n\n\n<h2 id=\"what-is-the-dmd-gene-and-why-is-it-important\" class=\"wp-block-heading\">\u4ec0\u4e48\u662fDMD\u57fa\u56e0\uff1f\u5b83\u4e3a\u4ec0\u4e48\u5982\u6b64\u91cd\u8981\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DMD\u57fa\u56e0\u5305\u542b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u9057\u4f20\u6307\u4ee4\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u662f\u4e00\u79cd\u7ed3\u6784\u86cb\u767d\uff0c\u6709\u52a9\u4e8e\u4fdd\u62a4\u808c\u8089\u7ea4\u7ef4\u514d\u53d7\u53cd\u590d\u6536\u7f29\u9020\u6210\u7684\u635f\u4f24\u3002\u5f53\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7f3a\u5931\u6216\u663e\u8457\u51cf\u5c11\u65f6\uff0c\u808c\u8089\u7ea4\u7ef4\u4f1a\u9010\u6e10\u53d7\u635f\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD\u57fa\u56e0\u5f02\u5e38\u5e9e\u5927\uff0c\u5305\u542b79\u4e2a\u5916\u663e\u5b50\u3002\u5176\u5e9e\u5927\u7684\u4f53\u79ef\u5bfc\u81f4\u4e86DMD\u4e2d\u89c2\u5bdf\u5230\u7684\u7a81\u53d8\u9891\u7387\u548c\u591a\u6837\u6027\u76f8\u5bf9\u8f83\u9ad8\u3002\u7f3a\u5931\u7a81\u53d8\u5c24\u4e3a\u5e38\u89c1\uff0c\u7f3a\u5931\u70ed\u70b9\u533a\u57df\u5305\u62ec\u5916\u663e\u5b502-20\u548c45-55\u3002.<\/p>\n\n\n\n<h3 id=\"how-does-an-exon-deletion-affect-dystrophin\" class=\"wp-block-heading\">\u5916\u663e\u5b50\u7f3a\u5931\u5982\u4f55\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5f53\u7f3a\u5931\u7834\u574f\u4e86\u9605\u8bfb\u6846\u65f6\uff0c\u7ec6\u80de\u673a\u5236\u53ef\u80fd\u65e0\u6cd5\u6b63\u786e\u89e3\u8bfb\u5269\u4f59\u7684\u9057\u4f20\u6307\u4ee4\u3002.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1024x576.jpg\" alt=\"DMD\u57fa\u56e0\u5916\u663e\u5b50\u7f3a\u5931\u663e\u793a\u7f3a\u5931\u4e00\u4e2a\u5916\u663e\u5b50\u53ca\u5176\u5bf9\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u548c\u808c\u8089\u7684\u5f71\u54cd\" class=\"wp-image-8633\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1024x576.jpg 1024w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-300x169.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-768x432.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1536x864.jpg 1536w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-18x10.jpg 18w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-746x420.jpg 746w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-150x84.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-696x392.jpg 696w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion-1068x601.jpg 1068w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/dmd-gene-exon-deletion.jpg 1672w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u8fd9\u5f20\u56fe\u5c55\u793a\u4e86DMD\u57fa\u56e0\u4e2d\u7f3a\u5931\u4e00\u4e2a\u5916\u663e\u5b50\u5982\u4f55\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u4ea7\u751f\u548c\u808c\u8089\u529f\u80fd\u3002.<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u4f1a\u5bfc\u81f4\u529f\u80fd\u6027\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u4ea7\u751f\u91cf\u5f88\u5c11\u6216\u6839\u672c\u6ca1\u6709\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u76f8\u6bd4\u4e4b\u4e0b\uff0c\u6709\u4e9b\u7f3a\u5931\u80fd\u591f\u4fdd\u7559\u9605\u8bfb\u6846\uff0c\u5e76\u53ef\u80fd\u4ea7\u751f\u8f83\u77ed\u4f46\u4fdd\u7559\u90e8\u5206\u529f\u80fd\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002\u8fd9\u79cd\u5dee\u5f02\u662f\u5bfc\u81f4\u643a\u5e26\u4e0d\u540cDMD\u7f3a\u5931\u7684\u4e24\u540d\u60a3\u8005\u51fa\u73b0\u4e0d\u540c\u4e34\u5e8a\u8868\u73b0\u7684\u539f\u56e0\u4e4b\u4e00\u3002.<\/p>\n\n\n\n<h2 id=\"how-are-exon-deletions-detected\" class=\"wp-block-heading\">\u5982\u4f55\u68c0\u6d4b\u5916\u663e\u5b50\u7f3a\u5931\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u53d1\u73b0\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u7591\u4f3c\u60a3\u6709 DMD \u6216 BMD \u7684\u4eba\uff0c\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\u53ef\u4ee5\u786e\u5b9a DMD \u57fa\u56e0\u662f\u5426\u5305\u542b\u7f3a\u5931\u3001\u91cd\u590d\u6216\u8f83\u5c0f\u7684\u5e8f\u5217\u53d8\u5f02\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u7f3a\u5931\u548c\u91cd\u590d\u5206\u6790\u5c24\u4e3a\u91cd\u8981\uff0c\u56e0\u4e3a\u8fd9\u4e9b\u8f83\u5927\u7684\u57fa\u56e0\u53d8\u5316\u5360 DMD \u7a81\u53d8\u7684\u5f88\u5927\u4e00\u90e8\u5206\u3002.<\/p>\n\n\n\n<h3 id=\"what-does-a-genetic-test-result-look-like\" class=\"wp-block-heading\">\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u957f\u4ec0\u4e48\u6837\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u62a5\u544a\u53ef\u80fd\u4f1a\u5305\u542b\u7c7b\u4f3c\u4ee5\u4e0b\u5185\u5bb9\uff1a<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"wp-block-paragraph\">DMD\u57fa\u56e0\uff1a\u5916\u663e\u5b5045-50\u7f3a\u5931<\/p>\n<\/blockquote>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8fd9\u5e76\u4e0d\u610f\u5473\u7740\u8be5\u4eba\u201c\u4e22\u5931\u4e86\u516d\u4e2a\u57fa\u56e0\u201d\u3002\u800c\u662f\u6307\u540c\u4e00\u4e2aDMD\u57fa\u56e0\u5185\u7684\u516d\u4e2a\u7f16\u53f7\u5916\u663e\u5b50\u533a\u57df\u7f3a\u5931\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u786e\u5207\u7684\u68c0\u6d4b\u7ed3\u679c\u5e94\u7531\u5408\u683c\u7684\u9057\u4f20\u5b66\u5bb6\u3001\u795e\u7ecf\u79d1\u533b\u751f\u3001\u9057\u4f20\u54a8\u8be2\u5e08\u6216\u5176\u4ed6\u76f8\u5173\u533b\u7597\u4e13\u4e1a\u4eba\u5458\u8fdb\u884c\u89e3\u8bfb\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/dmd-genetic-testing\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD\u57fa\u56e0\u68c0\u6d4b<\/a><\/p>\n\n\n\n<h2 id=\"exon-deletion-vs-exon-duplication\" class=\"wp-block-heading\">\u5916\u663e\u5b50\u7f3a\u5931\u4e0e\u5916\u663e\u5b50\u91cd\u590d<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50\u7f3a\u5931\u662f\u6307\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u533a\u57df\u7f3a\u5931\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50\u91cd\u590d\u662f\u6307\u4e00\u4e2a\u6216\u591a\u4e2a\u5916\u663e\u5b50\u533a\u57df\u5b58\u5728\u4e8e\u989d\u5916\u7684\u526f\u672c\u4e2d\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e24\u8005\u90fd\u4f1a\u5f71\u54cdDMD\u57fa\u56e0\u7684\u9605\u8bfb\u6846\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b\u5982\uff0c\u5982\u679c\u7f3a\u5931\u6216\u91cd\u590d\u6539\u53d8\u4e86 DNA \u78b1\u57fa\u7684\u6570\u91cf\uff0c\u4ece\u800c\u7834\u574f\u4e86\u86cb\u767d\u8d28\u751f\u4ea7\u8fc7\u7a0b\u4e2d\u4f7f\u7528\u7684\u4e09\u78b1\u57fa\u8bfb\u53d6\u6a21\u5f0f\uff0c\u5219\u7531\u6b64\u4ea7\u751f\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6307\u4ee4\u53ef\u80fd\u4f1a\u53d8\u5f97\u5f02\u5e38\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u56e0\u6b64\uff0c\u4e0d\u5e94\u4ec5\u4ec5\u6839\u636e\u6d89\u53ca\u7684\u5916\u663e\u5b50\u6570\u91cf\u6765\u89e3\u8bfb\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u3002\u5177\u4f53\u7684\u7a81\u53d8\u53ca\u5176\u5bf9\u9605\u8bfb\u6846\u7684\u5f71\u54cd\u81f3\u5173\u91cd\u8981\u3002.<\/p>\n\n\n\n<h2 id=\"what-is-the-connection-between-exon-deletion-and-exon-skipping\" class=\"wp-block-heading\">\u5916\u663e\u5b50\u7f3a\u5931\u548c\u5916\u663e\u5b50\u8df3\u8dc3\u4e4b\u95f4\u6709\u4ec0\u4e48\u8054\u7cfb\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5bb6\u5ead\u4e4b\u6240\u4ee5\u4f1a\u542c\u8bf4\u5916\u663e\u5b50\u7f3a\u5931\uff0c\u6700\u91cd\u8981\u7684\u539f\u56e0\u4e4b\u4e00\u662f\u5b83\u4e0e\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u6709\u5173\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u8df3\u8dc3\u662f\u4e00\u79cd\u9488\u5bf9\u7279\u5b9a\u7a81\u53d8\u7684\u7b56\u7565\uff0c\u65e8\u5728\u5e2e\u52a9\u6062\u590d DMD \u4fe1\u4f7f RNA \u7684\u9605\u8bfb\u6846\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u60f3\u8c61\u4e00\u4e0b\uff0cDMD\u57fa\u56e0\u5c31\u50cf\u4e00\u5217\u7531\u591a\u4e2a\u8f66\u53a2\u7ec4\u6210\u7684\u706b\u8f66\u3002\u5982\u679c\u7f3a\u5c11\u51e0\u4e2a\u8f66\u53a2\uff0c\u5269\u4f59\u7684\u8f66\u53a2\u53ef\u80fd\u65e0\u6cd5\u6b63\u786e\u8fde\u63a5\u3002\u5916\u663e\u5b50\u8df3\u8dc3\u6cd5\u8bd5\u56fe\u79fb\u9664\u4e00\u4e2a\u989d\u5916\u7684\u5916\u663e\u5b50\uff0c\u4ee5\u4fbf\u5269\u4f59\u7684\u5e8f\u5217\u80fd\u591f\u518d\u6b21\u4ee5\u6b63\u786e\u7684\u9605\u8bfb\u6846\u8bfb\u53d6\u3002\u4e86\u89e3\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-exon-skipping-and-how-does-it-work\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u8df3\u8dc3<\/a><\/p>\n\n\n\n<h3 id=\"can-exon-skipping-correct-every-exon-deletion\" class=\"wp-block-heading\">\u5916\u663e\u5b50\u8df3\u8dc3\u80fd\u5426\u7ea0\u6b63\u6240\u6709\u5916\u663e\u5b50\u7f3a\u5931\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e0d\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5916\u663e\u5b50\u8df3\u8dc3\u662f\u7a81\u53d8\u7279\u5f02\u6027\u7684\u3002.<\/strong> \u7279\u5b9a\u7f3a\u5931\u80fd\u5426\u5f97\u5230\u89e3\u51b3\uff0c\u53d6\u51b3\u4e8e\u7f3a\u5931\u7684\u5177\u4f53\u5916\u663e\u5b50\u4ee5\u53ca\u8df3\u8fc7\u53e6\u4e00\u4e2a\u5916\u663e\u5b50\u662f\u5426\u53ef\u4ee5\u6062\u590d\u9605\u8bfb\u6846\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b\u5982\uff0c\u7814\u7a76\u8868\u660e\uff0c\u4e0d\u540c\u7684\u7f3a\u5931\u6a21\u5f0f\u53ef\u80fd\u53ef\u4ee5\u901a\u8fc7\u8df3\u8fc7\u540c\u4e00\u4e2a\u5916\u663e\u5b50\u6765\u7ea0\u6b63\uff0c\u800c\u5176\u4ed6\u7f3a\u5931\u5219\u53ef\u80fd\u65e0\u6cd5\u901a\u8fc7\u8fd9\u79cd\u65b9\u6cd5\u8fdb\u884c\u7ea0\u6b63\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u56e0\u6b64\uff0c\u60a3\u8005\u5bb6\u5c5e\u4e0d\u5e94\u60f3\u5f53\u7136\u5730\u8ba4\u4e3a\u5916\u663e\u5b50\u7f3a\u5931\u5c31\u4e00\u5b9a\u610f\u5473\u7740\u67d0\u79cd\u7279\u5b9a\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u6cbb\u7597\u65b9\u6848\u662f\u5408\u9002\u7684\u3002\u9605\u8bfb\u66f4\u591a\uff1a <a href=\"https:\/\/dmdwarrior.com\/zh\/next-generation-exon-skipping-therapies-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4e0b\u4e00\u4ee3\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5<\/a><\/p>\n\n\n\n<h2 id=\"does-an-exon-deletion-mean-a-child-has-duchenne\" class=\"wp-block-heading\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u5426\u610f\u5473\u7740\u5b69\u5b50\u60a3\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u672a\u5fc5\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>DMD \u57fa\u56e0\u4e2d\u7684\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u80fd\u4e0e\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u6216\u8d1d\u514b\u5c14\u808c\u8425\u517b\u4e0d\u826f\u75c7\u6709\u5173\uff0c\u5177\u4f53\u89e3\u91ca\u53d6\u51b3\u4e8e\u7279\u5b9a\u53d8\u5f02\u548c\u4e34\u5e8a\u80cc\u666f\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u9605\u8bfb\u6846\u89c4\u5219\u867d\u7136\u6709\u7528\uff0c\u4f46\u5e76\u4e0d\u5b8c\u7f8e\u3002\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u60a3\u8005\u4e2d\u5df2\u53d1\u73b0\u4e00\u4e9b\u6846\u5185\u7f3a\u5931\uff0c\u800c\u4e14\u67d0\u4e9b\u7279\u5b9a\u7684\u7f3a\u5931\u53ef\u80fd\u4e0e\u4e0d\u540c\u7684\u4e34\u5e8a\u8868\u578b\u76f8\u5173\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u56e0\u6b64\uff0c\u5728\u8003\u8651\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u65f6\uff0c\u5e94\u59cb\u7ec8\u7ed3\u5408\u60a3\u8005\u7684\u4e34\u5e8a\u8868\u73b0\u3001\u5bb6\u65cf\u53f2\u548c\u5176\u4ed6\u76f8\u5173\u68c0\u6d4b\u7ed3\u679c\u3002.<\/p>\n\n\n\n<h2 id=\"why-knowing-the-exact-exon-deletion-matters\" class=\"wp-block-heading\">\u4e3a\u4ec0\u4e48\u51c6\u786e\u4e86\u89e3\u5916\u663e\u5b50\u7f3a\u5931\u81f3\u5173\u91cd\u8981<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5bf9\u4e8e\u53d7 DMD \u5f71\u54cd\u7684\u5bb6\u5ead\u6765\u8bf4\uff0c\u4e86\u89e3\u786e\u5207\u7684\u57fa\u56e0\u7a81\u53d8\u53ef\u4ee5\u63d0\u4f9b\u91cd\u8981\u7684\u4fe1\u606f\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5b83\u53ef\u4ee5\u5e2e\u52a9\u533b\u7597\u4fdd\u5065\u4e13\u4e1a\u4eba\u5458\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u786e\u8ba4\u5206\u5b50\u8bca\u65ad<\/li>\n\n\n\n<li>\u4e86\u89e3DMD\u7a81\u53d8\u7684\u7c7b\u578b<\/li>\n\n\n\n<li>\u5224\u65ad\u5220\u9664\u64cd\u4f5c\u662f\u6846\u5185\u5220\u9664\u8fd8\u662f\u6846\u5916\u5220\u9664\u3002<\/li>\n\n\n\n<li>\u8bc4\u4f30\u6f5c\u5728\u7684\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb<\/li>\n\n\n\n<li>\u8bc4\u4f30\u662f\u5426\u7b26\u5408\u67d0\u4e9b\u7279\u5b9a\u7a81\u53d8\u7597\u6cd5\u7684\u6cbb\u7597\u6761\u4ef6<\/li>\n\n\n\n<li>\u786e\u5b9a\u54ea\u4e9b\u4eb2\u5c5e\u53ef\u80fd\u53d7\u76ca\u4e8e\u57fa\u56e0\u54a8\u8be2\u548c\u68c0\u6d4b<\/li>\n\n\n\n<li>\u652f\u6301\u9002\u5f53\u7684\u8ba1\u5212\u751f\u80b2\u8ba8\u8bba<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u6700\u91cd\u8981\u7684\u662f\uff0c\u201cDMD \u5916\u663e\u5b50\u7f3a\u5931\u201d\u672c\u8eab\u5e76\u4e0d\u662f\u4e00\u4e2a\u5b8c\u6574\u7684\u57fa\u56e0\u63cf\u8ff0\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5177\u4f53\u7684\u5916\u663e\u5b50\u6216\u5916\u663e\u5b50\u8303\u56f4\u5f88\u91cd\u8981\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50 45 \u7684\u7f3a\u5931\u4e0e\u5916\u663e\u5b50 45-50 \u7684\u7f3a\u5931\u4e0d\u540c\u3002\u5b83\u4eec\u5bf9\u9605\u8bfb\u6846\u548c\u6cbb\u7597\u65b9\u6848\u7684\u6f5c\u5728\u5f71\u54cd\u53ef\u80fd\u4e0d\u540c\u3002.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"864\" height=\"1821\" src=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic.jpg\" alt=\"\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u4fe1\u606f\u56fe\u89e3\u91caDMD\u57fa\u56e0\u7a81\u53d8\u548c\u5916\u663e\u5b50\u7f3a\u5931\" class=\"wp-image-8634\" title=\"\" srcset=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic.jpg 864w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-142x300.jpg 142w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-486x1024.jpg 486w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-768x1619.jpg 768w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-729x1536.jpg 729w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-6x12.jpg 6w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-199x420.jpg 199w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-150x316.jpg 150w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-300x632.jpg 300w, https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/02\/what-is-exon-deletion-dmd-infographic-696x1467.jpg 696w\" sizes=\"(max-width: 864px) 100vw, 864px\" \/><figcaption class=\"wp-element-caption\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u8fd9\u5f20\u4fe1\u606f\u56fe\u89e3\u91ca\u4e86DMD\u57fa\u56e0\u4e2d\u7f3a\u5931\u7684\u5916\u663e\u5b50\u5982\u4f55\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3001\u808c\u8089\u529f\u80fd\u3001\u8bca\u65ad\u548c\u6cbb\u7597\u65b9\u6848\u3002.<\/figcaption><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"frequently-asked-questions-about-exon-deletion\" class=\"wp-block-heading\">\u5173\u4e8e\u5916\u663e\u5b50\u7f3a\u5931\u7684\u5e38\u89c1\u95ee\u9898<\/h2>\n\n\n<div id=\"rank-math-faq\" class=\"rank-math-block\">\n<div class=\"rank-math-list\">\n<div id=\"faq-question-1788263163433\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50\u7f3a\u5931\u548c\u57fa\u56e0\u7f3a\u5931\u662f\u4e00\u6837\u7684\u5417\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u4e0d\u3002\u5916\u663e\u5b50\u7f3a\u5931\u901a\u5e38\u662f\u6307\u57fa\u56e0\u5185\u4e00\u4e2a\u6216\u591a\u4e2a\u7279\u5b9a\u7247\u6bb5\u7684\u4e22\u5931\u3002\u6574\u4e2a\u57fa\u56e0\u4e0d\u4e00\u5b9a\u4f1a\u6d88\u5931\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263188487\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50\u7f3a\u5931\u662f\u9057\u4f20\u7684\u5417\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u5b83\u53ef\u4ee5\u9057\u4f20\uff0c\u4f46\u4e5f\u53ef\u80fd\u7531\u65b0\u7684\u7a81\u53d8\uff08\u5373\u4ece\u5934\u7a81\u53d8\uff09\u5f15\u8d77\u3002\u9057\u4f20\u54a8\u8be2\u53ef\u4ee5\u5e2e\u52a9\u786e\u5b9a\u7279\u5b9a\u5bb6\u65cf\u7684\u9057\u4f20\u6a21\u5f0f\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263198271\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50\u7f3a\u5931\u4f1a\u5bfc\u81f4\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u5417\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u662f\u7684\u3002DMD\u57fa\u56e0\u4e2d\u7684\u81f4\u75c5\u6027\u5916\u663e\u5b50\u7f3a\u5931\u662f\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u7684\u4e3b\u8981\u539f\u56e0\u3002\u7136\u800c\uff0c\u5177\u4f53\u7684\u5f71\u54cd\u53d6\u51b3\u4e8e\u7f3a\u5931\u7684\u7c7b\u578b\u53ca\u5176\u5bf9\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4ea7\u751f\u7684\u5f71\u54cd\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263207327\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u4ee5\u6cbb\u7597\u5417\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u67d0\u4e9b\u7279\u5b9a\u7684DMD\u5916\u663e\u5b50\u7f3a\u5931\u53ef\u80fd\u9002\u7528\u4e8e\u7a81\u53d8\u7279\u5f02\u6027\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f8b\u5982\u5916\u663e\u5b50\u8df3\u8dc3\u3002\u7136\u800c\uff0c\u662f\u5426\u9002\u5408\u63a5\u53d7\u6b64\u7c7b\u6cbb\u7597\u53d6\u51b3\u4e8e\u5177\u4f53\u7684\u57fa\u56e0\u7a81\u53d8\u7c7b\u578b\u548c\u6240\u8003\u8651\u7684\u6cbb\u7597\u65b9\u6848\u3002.<\/p>\n\n<\/div>\n<\/div>\n<div id=\"faq-question-1788263216749\" class=\"rank-math-list-item\">\n<h3 class=\"rank-math-question\">\u5728\u54ea\u91cc\u53ef\u4ee5\u627e\u5230\u6211\u5b69\u5b50\u7684\u57fa\u56e0\u5916\u663e\u5b50\u7f3a\u5931\u4fe1\u606f\uff1f<\/h3>\n<div class=\"rank-math-answer\">\n\n<p>\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\u62a5\u544a\u4e2d\u901a\u5e38\u4f1a\u5217\u51fa\u5177\u4f53\u7684\u7f3a\u5931\u533a\u57df\u3002\u4f8b\u5982\uff0c\u5982\u679c\u62a5\u544a\u4e2d\u63d0\u5230\u201c\u5916\u663e\u5b5045-50\u7f3a\u5931\u201d\uff0c\u5219\u8be5\u8303\u56f4\u5373\u4e3a\u7f3a\u5931\u7684\u5916\u663e\u5b50\u533a\u57df\u3002.<\/p>\n\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-fe48e5de wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-3d td_btn_large\"><a class=\"wp-block-button__link has-vivid-red-background-color has-background wp-element-button\" href=\"https:\/\/dmdwarrior.com\/clinical-trials\/map\/\" target=\"_blank\" rel=\"noopener\">\u7acb\u5373\u67e5\u770b\u6211\u4eec\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e34\u5e8a\u8bd5\u9a8c\u5730\u70b9\u5730\u56fe<\/a><\/div>\n<\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"conclusion\" class=\"wp-block-heading\">\u7ed3\u8bba<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u4e86\u89e3\u5916\u663e\u5b50\u7f3a\u5931\u5bf9\u4e8e\u53d7\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u5f71\u54cd\u7684\u5bb6\u5ead\u81f3\u5173\u91cd\u8981\u3002. <strong>\u6bcf\u5904\u57fa\u56e0\u7f3a\u5931\u90fd\u6709\u5176\u7279\u5b9a\u7684\u9057\u4f20\u610f\u4e49\u3002.<\/strong> \u5177\u4f53\u6d89\u53ca\u54ea\u4e9b\u5916\u663e\u5b50\u81f3\u5173\u91cd\u8981\u3002\u9605\u8bfb\u6846\u4f1a\u5f71\u54cd\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u4ea7\u751f\u3002\u57fa\u56e0\u68c0\u6d4b\u53ef\u4ee5\u63ed\u793a\u7a81\u53d8\u7c7b\u578b\u3002\u5916\u663e\u5b50\u8df3\u8dc3\u53ef\u80fd\u6709\u52a9\u4e8e\u67d0\u4e9b\u7a81\u53d8\u7684\u6cbb\u7597\u3002. <strong>\u5e76\u975e\u6240\u6709\u57fa\u56e0\u7f3a\u5931\u90fd\u80fd\u6cbb\u7597\u3002.<\/strong> \u7ed3\u679c\u9700\u8981\u4e13\u5bb6\u89e3\u8bfb\u3002. <strong>\u51c6\u786e\u7684\u57fa\u56e0\u4fe1\u606f\u6709\u52a9\u4e8e\u505a\u51fa\u66f4\u660e\u667a\u7684\u51b3\u5b9a\u3002\u4e86\u89e3\u8fd9\u4e9b\u4fe1\u606f\u53ef\u4ee5\u5e2e\u52a9\u5bb6\u5ead\u66f4\u597d\u5730\u5e94\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u6cbb\u7597\u3002.<\/strong><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 id=\"academic-sources-references\" class=\"wp-block-heading\">\u5b66\u672f\u8d44\u6e90\u4e0e\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Abbs, S. \u7b49 (2020)\u3002. <em>EMQN \u808c\u8425\u517b\u4e0d\u826f\u75c7\u57fa\u56e0\u68c0\u6d4b\u6700\u4f73\u5b9e\u8df5\u6307\u5357\u3002.<\/em> <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7608854\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u6b27\u6d32\u4eba\u7c7b\u9057\u4f20\u5b66\u6742\u5fd7\uff0c28\uff0c1147-1162\u3002.<\/a><\/li>\n\n\n\n<li>Darras, BT, Urion, DK, &amp; Ghosh, PS \u8425\u517b\u4e0d\u826f\u75c7\u3002. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1119\/\" target=\"_blank\" rel=\"noreferrer noopener\">GeneReviews\u00ae\uff0cNCBI\u4e66\u67b6<\/a>.<\/li>\n\n\n\n<li>Aartsma-Rus, A., &amp; den Dunnen, JT (2019). \u5916\u663e\u5b50\u7f3a\u5931\/\u91cd\u590d\u7684\u8868\u578b\u9884\u6d4b\uff1a\u4ee5\u8d1d\u514b\u5c14\u808c\u8425\u517b\u4e0d\u826f\u75c7\u548c\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u4e3a\u4f8b\uff0c\u4e3a\u4e13\u4e1a\u4eba\u58eb\u548c\u4e34\u5e8a\u533b\u751f\u63d0\u4f9b\u7528\u6237\u6307\u5357\u3002. <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23850\" target=\"_blank\" rel=\"noreferrer noopener\">\u4eba\u7c7b\u7a81\u53d8\uff0c40(9)\uff0c1381\u20131391<\/a>.<\/li>\n<\/ol>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>What is exon deletion, and why does it matter in Duchenne muscular dystrophy? An exon deletion occurs when one or more sections of a gene are missing, potentially affecting how the body produces an essential protein. In DMD, these deletions occur in the DMD gene, which contains the instructions for producing dystrophin. Understanding the exact [&hellip;]<\/p>\n","protected":false},"author":11,"featured_media":3013,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[884,885,883,175,886,881,882],"class_list":["post-3004","post","type-post","status-publish","format-standard","has-post-thumbnail","category-dmd","tag-dmd-genetics","tag-dmd-mutation","tag-duchenne-genetics","tag-exon-deletions","tag-genetic-mutations","tag-in-frame-deletion","tag-out-of-frame-deletion"],"subtitle":"\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u7f3a\u5931\uff1f\u5b83\u4e3a\u4f55\u5bf9\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u5982\u6b64\u91cd\u8981\uff1f\u7f3a\u5931\u4e00\u4e2a\u5916\u663e\u5b50\u4f1a\u6539\u53d8DMD\u57fa\u56e0\u4ea7\u751f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u65b9\u5f0f\uff0c\u5e76\u53ef\u80fd\u5f71\u54cd\u8bca\u65ad\u3001\u75be\u75c5\u8fdb\u5c55\u548c\u6cbb\u7597\u65b9\u6848\u3002.","_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3004","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/users\/11"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/comments?post=3004"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/3004\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media\/3013"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media?parent=3004"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/categories?post=3004"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/tags?post=3004"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}