{"id":11005,"date":"2017-02-18T20:45:37","date_gmt":"2017-02-18T12:45:37","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100000356&idx=1&sn=b38aa1e56e6401fd03790271b5943792&chksm=6b72b0d35c0539c5e52b8915c6296637845a6609e2e21608b3e4dbaa69f1a509fccd0c97cedc#rd"},"modified":"2026-04-03T11:00:51","modified_gmt":"2026-04-03T03:00:51","slug":"489857","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/02\/18\/489857\/","title":{"rendered":"\u4e2d\u56fd\u9057\u4f20\u5b66\u4f1a\u9057\u4f20\u54a8\u8be2\u5206\u4f1a\u53d1\u5e03\u300aACMG\u9057\u4f20\u53d8\u5f02\u5206\u7c7b\u6807\u51c6\u4e2d\u6587\u7248\u4e13\u5bb6\u5171\u8bc6\u300b"},"content":{"rendered":"

<\/p>\n

\u5173\u952e\u8bcd\uff1aACMG\u5b9e\u9a8c\u5ba4\u6307\u5357\uff1b<\/div>\n
\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\uff1b\u89e3\u8bfb\uff1b\u62a5\u544a\uff1b<\/div>\n
\u5e8f\u5217\u53d8\u5f02\u672f\u8bed\uff1b\u53d8\u5f02\u62a5\u544a<\/div>\n
\u7528\u65f6\uff1a\u56fe42\u5f20\uff0c\u7ea650\u5206<\/div>\n
2017\u5e742\u670818\u65e5\uff0c\u4e2d\u56fd\u9057\u4f20\u5b66\u4f1a\u9057\u4f20\u54a8\u8be2\u5206\u4f1a\u5728\u82cf\u5dde\u72ec\u5885\u6e56\u7554\u53ec\u5f002017\u5e74\u5e74\u4f1a\uff0c\u4f1a\u4e0a\u53d1\u5e03\u300a\u4e2d\u56fd\u9057\u4f20\u54a8\u8be2\u6807\u51c6\u4e13\u5bb6\u5171\u8bc6\u6307\u5357\u300b\u548c\u300aACMG\u9057\u4f20\u53d8\u5f02\u5206\u7c7b\u6807\u51c6\u4e2d\u6587\u7248\u4e13\u5bb6\u5171\u8bc6\u300b\uff0c\u4e3a\u4e2d\u56fd\u9057\u4f20\u54a8\u8be2\u8d70\u5411\u6807\u51c6\u5316\u3001\u6b63\u89c4\u5316\u548c\u804c\u4e1a\u5316\u5960\u5b9a\u57fa\u7840\u3002\u57fa\u56e0\u6167\u6574\u7406\u300aACMG\u9057\u4f20\u53d8\u5f02\u5206\u7c7b\u6807\u51c6\u4e2d\u6587\u7248\u4e13\u5bb6\u5171\u8bc6\u300b\u5168\u6587\u5982\u4e0b\uff0c\u70b9\u51fb\u6587\u672b\u201c\u9605\u8bfb\u5168\u6587\u201d\u5373\u53ef\u8df3\u8f6c\u81f3\u4e2d\u56fd\u9057\u4f20\u534f\u4f1a\u9057\u4f20\u54a8\u8be2\u5206\u4f1a\u7f51\u5740\u3002<\/div>\n

\u76ee\u5f55<\/p>\n

\u9057\u4f20\u53d8\u5f02\u5206\u7c7b\u6807\u51c6\u4e0e\u6307\u5357<\/div>\n
6.1 \u57fa\u4e8e\u68c0\u6d4b\u7ed3\u679c\u5bf9GUS\u53d8\u5f02\u7684\u8bc4\u4f30\u548c\u62a5\u544a<\/div>\n
6.2 \u5728\u5065\u5eb7\u4e2a\u4f53\u4e2d\u8bc4\u4f30\u53d8\u5f02\u6216\u4f5c\u4e3a\u5076\u7136\u53d1\u73b0<\/div>\n
6.3 \u7ebf\u7c92\u4f53\u53d8\u5f02<\/div>\n
6.4 \u836f\u7269\u57fa\u56e0\u7ec4\u5b66<\/div>\n
6.5 \u5e38\u89c1\u590d\u6742\u75be\u75c5<\/div>\n
6.6 \u4f53\u7ec6\u80de\u53d8\u5f02<\/div>\n
5.1 \u7ed3\u679c<\/div>\n
5.2 \u89e3\u8bfb<\/div>\n
5.3 \u65b9\u6cd5\u5b66<\/div>\n
5.4 \u60a3\u8005\u7ef4\u6743\u56e2\u4f53\u3001\u4e34\u5e8a\u5b9e\u9a8c\u548c\u7814\u7a76\u7684\u83b7\u53d6<\/div>\n
5.5 \u53d8\u5f02\u518d\u5206\u6790<\/div>\n
5.6 \u53d8\u5f02\u7684\u9a8c\u8bc1<\/div>\n
4.1 PVS1 \u65e0\u529f\u80fd\u53d8\u5f02<\/div>\n
4.2 PS1 \u7a81\u53d8\u4e3a\u540c\u4e00\u6c28\u57fa\u9178<\/div>\n
4.3 PS2 PM6 \u65b0\u53d1\u53d8\u5f02<\/div>\n
4.4 PS3 BS3 \u529f\u80fd\u7814\u7a76<\/div>\n
4.5 PS4 PM2 BA1 BS1 BS2 \u53d8\u5f02\u9891\u7387\u53ca\u5bf9\u7167\u4eba\u7fa4\u7684\u4f7f\u7528<\/div>\n
4.6 PM1 \u70ed\u70b9\u7a81\u53d8\u548c\/\u6216\u5173\u952e\u7684\u3001\u5f97\u5230\u786e\u8ba4\u7684\u529f\u80fd\u57df<\/div>\n
4.7 PM3 BP2 \u987a\u5f0f\/\u53cd\u5f0f\u68c0\u6d4b<\/div>\n
4.8 PM4 BP3 \u7531\u4e8e\u6846\u5185\u7f3a\u5931\/\u63d2\u5165\u548c\u7ec8\u6b62\u5bc6\u7801\u5b50\u4e27\u5931\u5bfc\u81f4\u7684\u86cb\u767d\u957f\u5ea6\u6539\u53d8<\/div>\n
4.9 PM5 \u540c\u4e00\u4f4d\u7f6e\u65b0\u7684\u9519\u4e49\u53d8\u5f02<\/div>\n
4.10 PP1 BS4 \u5171\u5206\u79bb\u5206\u6790<\/div>\n
4.11 PP2 BP1 \u53d8\u5f02\u8c31<\/div>\n
4.12 PP3 BP4 \u751f\u7269\u4fe1\u606f\u5206\u6790\u6570\u636e<\/div>\n
4.13 PP4 \u8868\u578b\u652f\u6301<\/div>\n
4.14 PP5 BP6 \u53ef\u9760\u7684\u6765\u6e90<\/div>\n
4.15 BP5 \u53ef\u66ff\u4ee3\u57fa\u56e0\u5ea7\u89c2\u5bdf<\/div>\n
4.16 BP7 \u540c\u4e49\u53d8\u5f02<\/div>\n
3.1 \u672f\u8bed<\/div>\n
3.2 \u547d\u540d<\/div>\n
3.3 \u6587\u732e\u53ca\u6570\u636e\u5e93\u4f7f\u7528<\/div>\n
3.4 \u751f\u7269\u4fe1\u606f\u5b66\u8ba1\u7b97\u9884\u6d4b\u7a0b\u5e8f<\/div>\n
\u00a0<\/div>\n
\u514d\u8d23\u58f0\u660e<\/div>\n
\u6458\u8981<\/div>\n
Key Words \u5173\u952e\u8bcd<\/div>\n
1.\u5f15\u8a00<\/div>\n
2.\u65b9\u6cd5<\/div>\n
3.\u603b\u8bba<\/div>\n
4. \u5e8f\u5217\u53d8\u5f02\u89e3\u8bfb\u7684\u62df\u5b9a\u6807\u51c6<\/div>\n
5. \u5e8f\u5217\u53d8\u5f02\u62a5\u5bfc<\/div>\n
6. \u7279\u6b8a\u53d8\u5f02<\/div>\n
7. \u533b\u7597\u5de5\u4f5c\u8005\u5982\u4f55\u4f7f\u7528\u8fd9\u4e9b\u6307\u5357\u548c\u5efa\u8bae<\/div>\n
8 \u53c2\u8003\u6587\u732e\uff08\u7565\uff09<\/div>\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t83ibwy2hjLTBuHic05Waf2jXZjSndc8fzPf7L2cBpgTbn2ntVRMnWeiaAg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8onF8ovxFynZqqveaJzNa5Yr5FF1oAJe7giaDwzdKSUq25aEfAjHvrkA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8Ah9ZF8iaGIAwkFIjroNWo28XuLsomibSxHp8Y6tKpibAYVSALr8EKLSWg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8aXLlhRDibJP0rk5slnZ4BRHaiaOEaDEibxBh50rMwovSue3Zic0HrYTyqg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8JUYWAEZRDq3sCKkDs1BibxjdjsV4GdtD8qiamdINxib0L9Q5cuicgdxWLw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8jAuTm1uZr3ic3cftw6nOGV9snH9zhe5bjTvw2Bd3NhYrS5zTUEMf98g\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8ibwG7h1v30WNWHpYFTCxSDq86nhJ0Lv9oLHpvyGwwIacX4S6CB9o1uQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8RSeezTxnwwgtoicXcuYxDmD0YxnjeMt3sIwsw4jyqewfdohfmg7Trhg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8xticzTKPZiax4gx7uCXp3nGd3zmTHBndSgGp0SD4x7NiaBF6JJp5m8EmA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t82yVhFfwQxgDvNmrvbsjyNypNdOgMwSYQT4ulN9jrRC0iaVkDmBYTjZg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8egDcOYiaPQXGsn08zEPlWeAND8kiaMaUVUNiajPpcNMiaTQ0upgliabianLA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8gAYKwYjDAql2LY3sZyMrZefhpBIVIGlAlLaK5AmjAVnRyzbWh2SAPQ\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t81nGfTc7kPcstV0xMXTvIZaa6dNBS5Bga24bqbLsTSrsveRIUICTBAw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8Fhk4cNJJHZun2JwoWpCfFTRyzCfNWrbefRjNYVFUAIf1aSVmtDpOibQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t89gPyEUvk7KAicYrVC8UHiaiavV6Facfw6UeRPIHJYibIM8QMVVMiaiaWGehw\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8iapChc4hCp92wlGgGLZLS7shbVGond8ibGLqYXXoLNkhB3IiaAFx5glsw\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8SN6baRrV3OIicIRYGCIxE9KdeeictbYQZ2aFe2Z7Tic2OUdyLWr9C940Q\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t87F8ghJ6PRP6ZDwlgRFRqZR1ianbyia7cy3r4oXr3LiaSickzR0IhibFaP6Q\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8h6jWCeXV6icx24UGf0Zn6nAefSYXmMwqMYFVgCSBGpsxLKyMzFHFzAQ\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8q3D5BlMtq5gPPj1p1oTOnjCiblsZKroKdcHt1NUh2NmJYMDsVZkxianQ\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8Y1EmZ0r6xYDMtEShdHVmBz9ibkibk3B4xlqz6zhg9IoyKImwLXwF3VAQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8EkYwmyruuJTAHWCJuSPKLy3iarZDxrazE0tgn5XIquic32xTuOBF9ezw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8C1ewOibsajJ8hrfx77f5fQb5gW761jicyDg7Gv6kgTMOibtGF0w2RDLVA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8oC0OWBAricPSYon4rCg8xDqqNtsDN3odXG7NZpLelazhLSOubBFfFicA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8icM6ay41JqkWicibhxDCnUvkicYSCqEOZXTfeXQHwLc2BKpZ1IicoDvI8Ig\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8m22bVDnOXnd2WGicZuqr4cP2T0oocKFjY7qAw1w7EmnjCicFH4iarpJMw\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8sv3gA2MIwBDokQ3ddkvFgGhAZe4xwH5Yic7nAOGhK9DasicwBe7ygXMA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8dKhfZGTEw8c9uhvGadPtNjRK84sXKlEaqs6v90l2E9BdOWtZvXwKmw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8vDiaywe4IvTiaQWf4YcH7BTphFxHd2xSyphof6cyNW4ffTXaDyLjUwuQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8YWhb1OWOGician1SOwRfoB1fVE5XxfAiaSr4iavJCDAE5j6nqJ9RCqSI5g\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8csF1FrYV6CuDT8vY4Wwex7UgunK6X4Rgw8fkWvbPZcYF9OJNjMIHEA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8xSia4VZuntxaTLrhUQ0tZjXyia2x87RNmoPurIK929zecACkUibUtLgOg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8kqBiaMYW268wWK1Da5jR6bbuEXqKcFsZMOIf2GafCfHvxWXUcugatXw\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8JI095RrxeuIuia6YS8Slk7B3c5sEd4EScsia8VScznJnDJ8icDibM0iccpg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8cnhFvjXxf9Vx0qredzXiaicoeMSxTvsbRL7N8P38AlTibDpGPBCficVJ0A\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8gw89Dm385XmoOy9eTsYbnEWMyicoicU2KygwfBgqDqHonWnNJ7eUZVqg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t85bchicazWDicdCNoicMia9ks76jiasJZsrVGkSARibMfxUF092qebI2ubOzg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8zxzJ4UV28nIbqbibZr1CZEWrmOC7tA6kmT3hmlLibu3KC7YLKePUgibxA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8zoF5Y8ZrxlJmM5mx50yibLyJICHDpQmGOLDzyH0kibKdadEx8cweWmIA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8yJOv7xKXhV0Sb2sibiaBc7FyXIW2ABOJK7ibpyU1oIbmczDFibGfUtExcQ\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8ha3AFCtYYe5DicDiaQvedleL8PhKMic8qvbrxWHPq5sz7W5ibHrlN1mIVg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8iaccRsqTImm6BBrX3V3icyQz9y47GBJpYKHyr1LspVfmf0Q9XbATwFbA\"\/<\/figure><\/div>\n\n<\/div>\n

8 \u53c2\u8003\u6587\u732e\uff08\u7565\uff09<\/p>\n

<\/div>\n
\u9644\u52a0\u56fe\u8868<\/div>\n
<\/div>\n

\u56fe1<\/p>\n

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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8diaaAqeuiasSrSAAeOTLG7ibHCWPyJyvbRa20UiaEItEFTvO5TFSobkXHg\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t81laJQBVZqbrvLSkJNNZ8mS05jcjmoLOicOsBd7MX3Jo1PmGH9reT7uA\"\/<\/figure><\/div>\n\n

\u88681 \u4eba\u7fa4\u6570\u636e\u5e93\uff0c\u75be\u75c5\u7279\u5f02\u6027\u6570\u636e\u5e93\u548c\u5e8f\u5217\u6570\u636e\u5e93<\/p>\n\n

\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8S6VCRNewnwINZ1bvLFn1tt4AWicvia8H5jv0aBa7A5apK2eYe5lnSQbA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8ibmjCUX5axwAQC4bgdckdUNXIlqicV5UyIJE0R00uiax3ovdeSa6ftf9w\"\/<\/figure><\/div>\n\n

\u88682 \u751f\u7269\u4fe1\u606f\u5206\u6790\u5de5\u5177<\/p>\n\n

\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t84s3xbzIgnXiafzTOFicKfeGjrDUO8tA1TQOOEqicxuj1u1FibBP9c7GibKg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8AQpML6yv7unytz4icQaxmyZibNMYtvsFRicSHonPnRMibR3BFpD6rOe9xQ\"\/<\/figure><\/div>\n\n

\u88683 \u81f4\u75c5\u53d8\u5f02\u5206\u7ea7\u6807\u51c6<\/p>\n\n

\n
\"RmFicvQBAkgARB7V0HbmAwM6cpoorI3t8aHjDPmmibvibbhdGPqtnQpBeeuI4q5sP046tdqpdw9OGxOdkEOiciaYVnw\"\/<\/figure><\/div>\n\n<\/div>\n
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