{"id":9312,"date":"2019-03-02T10:15:59","date_gmt":"2019-03-02T02:15:59","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100009523&#038;idx=1&#038;sn=a749e8b3d098b120ad745d1473e42604&#038;chksm=6b7154845c06dd9242471fe31647e739cea759bdf70259e6cd87e705f5538898e450bede796b#rd"},"modified":"2026-04-08T10:30:02","modified_gmt":"2026-04-08T02:30:02","slug":"10099101","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/03\/02\/10099101\/","title":{"rendered":"6 \u4e2a\u771f\u5b9e\u6545\u4e8b\u544a\u8bc9\u60a8\uff1a\u57fa\u56e0\u68c0\u6d4b\u5982\u4f55\u52a9\u529b\u7f55\u89c1\u75c5\u8bca\u7597"},"content":{"rendered":"<p><!-- wechat_content_hash: dce006ba145418a5 --><\/p>\n<div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg.gif\" alt=\"RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg\"\/><\/figure><\/div>\n\n<div>\u5173\u952e\u8bcd\/\u7f55\u89c1\u75c5 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class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAnae8Q55wdgv4eHUFREv7bW0EQpIdFPYQNA55Mn1bAicJcjm8doNOb3OqCvSuLctqGia3dsr7T6X0g.jpeg\" alt=\"RmFicvQBAkgAnae8Q55wdgv4eHUFREv7bW0EQpIdFPYQNA55Mn1bAicJcjm8doNOb3OqCvSuLctqGia3dsr7T6X0g\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u5de6\u56fe\uff0c\u80c3\u80a0\u955c\u68c0\u67e5\u7ed3\u679c\u53d1\u73b0\u7ed3\u80a0\u5c0f\u80a0\u591a\u53d1\u9686\u8d77\u578b\u75c5\u53d8\uff1b\u53f3\u56fe\uff0c\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c<\/div>\n<div>\u25c6 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2017,55(01): 19-24\u53cahttps:\/\/www.sciencedirect.com\/science\/article\/pii\/S1532046417301764#b0190\uff09<\/div>\n<div>\u00a0<\/div>\n<div>2\u5341\u5e74\u8f97\u8f6c\u6cbb\u7597\uff0c\u57fa\u56e0\u68c0\u6d4b\u52a9\u529b\u786e\u8bca\u00a0 \u00a0 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ataxias\uff09\u5360\u795e\u7ecf\u9057\u4f20\u75c5\u768410\uff5e15%\uff0c\u5305\u542b\u4e00\u5927\u7c7b\u9057\u4f20\u6027\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\uff0c\u5177\u6709\u9ad8\u5ea6\u7684\u9057\u4f20\u5f02\u8d28\u6027\u548c\u4e34\u5e8a\u53d8\u5f02\u6027\uff0c\u81f3\u5c11\u5305\u62ec200\u591a\u79cd\u75be\u75c5\uff0c\u6587\u4e2d\u6848\u4f8b\u5373\u5c5e\u5176\u4e2d\u4e00\u79cd\uff0c\u76ee\u524d\u57fa\u4e8e\u9057\u4f20\u6a21\u5f0f\u548c\u81f4\u75c5\u57fa\u56e0\u8fdb\u884c\u5206\u578b\u548c\u8bca\u65ad\u3002\u4ece\u9057\u4f20\u6a21\u5f0f\u4e0a\u53ef\u5206\u4e3a\uff1a1\u3001\u5e38\u67d3\u8272\u4f53\u663e\u6027\u5171\u6d4e\u5931\u8c03\uff08ADCA\uff09\uff0c\u4e3b\u8981\u6307\u810a\u9ad3\u5c0f\u8111\u5171\u6d4e\u5931\u8c03\uff08SCA\uff09\uff0c\u8fd8\u5305\u62ec\u53d1\u4f5c\u6027\u5171\u6d4e\u5931\u8c03\uff08EA\uff09\uff1b2\u3001\u5e38\u67d3\u8272\u4f53\u9690\u6027\u5171\u6d4e\u5931\u8c03\uff08ARCA\uff09\uff0c\u4e0a\u6587\u63d0\u5230\u7684\u5171\u6d4e\u5931\u8c03\u4f34\u6bdb\u7ec6\u8840\u7ba1\u6269\u5f20\u6837\u75c51\u578b\u5c5e\u4e8e\u8fd9\u4e2a\u7c7b\u578b\uff0c\u90e8\u5206ARCA\u75be\u75c5\u4ee5SCAR\u7cfb\u5217\u547d\u540d\uff1b3\u3001X-\u8fde\u9501\u5171\u6d4e\u5931\u8c03\uff1b4\u3001\u7ebf\u7c92\u4f53\u6bcd\u7cfb\u9057\u4f20\u5171\u6d4e\u5931\u8c03\u3002\uff08\u53d7\u8bbf\u533b\u751f\u63d0\u4f9b\uff09<\/div>\n<div>\u00a0<\/div>\n<div>3\u88ab\u5bb6\u4eba\u8bef\u89e3\u7684\u201c\u75c5\u79e7\u5b50\u201d\u00a0<\/div>\n<div>46\u5c81\u7684\u5f20\u5973\u58eb\u56e0\u4f4e\u8840\u94be\u3001\u4e4f\u529b\u3001\u5173\u8282\u75db\u3001\u70e6\u6e34\u3001\u591c\u5c3f\u589e\u591a\u3001\u8bb0\u5fc6\u529b\u51cf\u9000\u7b49\u75c7\u72b6\u6765\u5230\u5409\u6797\u5927\u5b66\u7b2c\u4e00\u533b\u9662\u57fa\u56e0\u8bca\u65ad\u4e2d\u5fc3\u5c31\u8bca\uff0c\u8fd9\u4e9b\u75c7\u72b6\u5df2\u6301\u7eed\u591a\u5e74\uff0c\u5728\u522b\u4eba\u773c\u91cc\uff0c\u5979\u662f\u75c5\u79e7\u5b50\u3001\u5a07\u6c14\u3001\u61d2\u60f0\uff0c\u751a\u81f3\u5bb6\u4eba\u4e5f\u4e0d\u7406\u89e3\uff0c\u7ed9\u5979\u5fc3\u7406\u4e0a\u5e26\u6765\u5f88\u5927\u7684\u538b\u529b\u3002\u6765\u5230\u5409\u6797\u4e00\u9662\u5c31\u8bca\u540e\uff0c\u533b\u751f\u4e3a\u5176\u8fdb\u884c\u4e34\u5e8a\u5168\u5916\u663e\u5b50\u68c0\u6d4b\uff0c\u8be5\u68c0\u6d4b\u9879\u76ee\u8986\u76d6\u4eba\u4f53\u5341\u5927\u7cfb\u7edf\u4e0e\u75be\u75c5\u5bc6\u5207\u76f8\u5173\u76844450\u4e2a\u57fa\u56e0\u7684\u7f16\u7801\u533a\uff0c\u6db5\u76d685%\u4ee5\u4e0a\u9057\u4f20\u75be\u75c5\u3002\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\uff0c\u60a3\u8005\u5728SLC12A3\u57fa\u56e0\u4e0a\u6709\u4e24\u4e2a\u81f4\u75c5\u6027\u7a81\u53d8\u4f4d\u70b9\uff0c\u5206\u522b\u6765\u81ea\u5176\u7236\u6bcd\uff0c\u786e\u8bca\u4e3aGitelman\u7efc\u5408\u5f81\u3002\u800c\u5979\u7684\u59b9\u59b9\u4eec\u6bcf\u4eba\u53ea\u643a\u5e26\u4e00\u4e2a\u7a81\u53d8\u4f4d\u70b9\uff0c\u56e0\u6b64\u4e0d\u4f1a\u53d1\u75c5\u3002<\/div>\n<div>\u57fa\u56e0\u5c42\u9762\u786e\u8bca\u4f7f\u6cbb\u7597\u6709\u636e\u53ef\u5faa\uff0c\u5f20\u5973\u58eb\u8fdb\u884c\u95e8\u51ac\u6c28\u9178\u94be\u3001\u6c2f\u5316\u94be\u3001\u919b\u56fa\u916e\u53d7\u4f53\u62ee\u6297\u5242\u3001\u6d88\u708e\u75db\u7b49\u8054\u5408\u6cbb\u7597\u540e\uff0c\u6548\u679c\u826f\u597d\u3002\u786e\u8bca\u540e\u4e5f\u5f97\u5230\u4e86\u5bb6\u4eba\u7684\u7406\u89e3\uff0c\u6781\u5927\u5730\u51cf\u8f7b\u4e86\u60a3\u8005\u7684\u8eab\u5fc3\u538b\u529b\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u25c6 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2017,56(09): 712-716.\uff09<\/div>\n<div>\u5728\u7b2c11\u5c4a\u56fd\u9645\u7f55\u89c1\u75c5\u65e5\u5230\u6765\u4e4b\u9645\uff0c\u57fa\u56e0\u6167\u53d1\u8d77\u201c\u5450\u7f55\u8005\u8ba1\u5212\u201d\uff0c\u9080\u8bf7\u4e13\u4e1a\u673a\u6784\uff0c\u5171\u540c\u5f00\u5c55\u4e3a\u671f3\u4e2a\u6708\u7684\u7f55\u89c1\u75c5\u8bca\u65ad\u6cbb\u7597\u666e\u53ca\u8ba1\u5212\uff0c\u5305\u62ec\u524d\u6cbf\u7814\u7a76\u6280\u672f\u3001\u4e34\u5e8a\u6848\u4f8b\u548c\u836f\u7269\u53ef\u53ca\u6027\u7684\u7cfb\u7edf\u79d1\u666e\u4e0e\u4f20\u64ad\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAnae8Q55wdgv4eHUFREv7b3UVyWF2y4BHFOeGrwWPo2Ofzwk7TAics6ODS77A26HHkVWOpGBg2t7w.jpeg\" alt=\"RmFicvQBAkgAnae8Q55wdgv4eHUFREv7b3UVyWF2y4BHFOeGrwWPo2Ofzwk7TAics6ODS77A26HHkVWOpGBg2t7w\"\/><\/figure><\/div>\n\n<\/div>\n<div><\/div>\n<div>\u53c2\u4e0e\u6d3b\u52a8\u53ef\u81f4\u7535400-088-7466<\/div>\n<div>\u6216\u626b\u7801\u6dfb\u52a0\u5fae\u4fe1\u54a8\u8be2 \u25bc<\/div>\n<div><\/div>\n<div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDmIE0LVkdQyWUVHWzCTuajzQUHQNC7hDW7YONYUTo5V2K7pw5cFUTLvY6iaURNwmw5u8uQMTWj2yQ.png\" alt=\"RmFicvQBAkgDmIE0LVkdQyWUVHWzCTuajzQUHQNC7hDW7YONYUTo5V2K7pw5cFUTLvY6iaURNwmw5u8uQMTWj2yQ\"\/><\/figure><\/div>\n\n<div>4\u8fde\u7eed5\u6b21\u5931\u8d25\u751f\u80b2\uff0c\u7adf\u662f\u7f55\u89c1\u75c5\u4f5c\u795f<\/div>\n<div>\u00a0<\/div>\n<div>\u9646\u519b\u519b\u533b\u5927\u5b66\u7b2c\u4e00\u9644\u5c5e\u533b\u9662\u5987\u4ea7\u79d1\u4ea7\u524d\u8bca\u65ad\u4e2d\u5fc3\u8fd1\u671f\u63a5\u8bca\u4e86\u4e00\u540d\u5b55\u5987\uff0c\u8fde\u7eed5\u6b21\u4e0d\u826f\u5b55\u53f2\uff0c\u5176\u4e2d3\u6b21\u5b55\u665a\u671f\u5747\u51fa\u73b0\u80ce\u513fNF\u589e\u539a\u3001\u4fa7\u8111\u5ba4\u589e\u5bbd\u3001\u80f8\u8179\u8154\u79ef\u6db2\uff0c\u6700\u8fd1\u4e00\u6b21\u598a\u5a20\uff0c\u80ce\u513f\u65e9\u4ea7\uff0c\u5e76\u56e0\u9885\u5185\u51fa\u8840\u548c\u9885\u8111\u7ed3\u6784\u7578\u5f62\u4e8e\u751f\u540e\u51e0\u5929\u4fbf\u592d\u6298\uff0c\u5c3d\u7ba1\u4ea7\u524d\u8d85\u58f0\u548c\u65b0\u751f\u513f\u671f\u7684\u4e34\u5e8a\u8868\u73b0\u90fd\u7591\u4f3c\u80ce\u513f\u5bab\u5185\u611f\u67d3\uff0c\u4f46\u5b55\u5987\u548c\u60a3\u513f\u5374\u5747\u672a\u68c0\u6d4b\u5230\u611f\u67d3\u8bc1\u636e\u3002\u533b\u9662\u6392\u9664\u60a3\u513f\u6838\u578b\u4e0e\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5f02\u5e38\u540e\uff0c\u8054\u5408\u60a3\u513f\u53ca\u592b\u5987\u8fdb\u884c\u4e86\u5bb6\u7cfb\u5168\u5916\u663e\u5b50\u6d4b\u5e8f\u5206\u6790\uff0c\u7ed3\u679c\u53d1\u73b0\u60a3\u513f\u5b58\u5728Pseudo-TORCH\u7efc\u5408\u5f81\u76f8\u5173\u7591\u4f3c\u75c5\u7406\u6027\u53d8\u5f02\uff0c\u7531\u4e8e\u60a3\u513f\u75c7\u72b6\u7b26\u5408\u8be5\u7efc\u5408\u5f81\u7684\u4e34\u5e8a\u8868\u73b0\uff0c\u518d\u83b7\u53d6\u524d2\u6b21\u80ce\u513f\u4ea7\u524d\u6807\u672c\u5bf9\u53d8\u5f02\u8fdb\u884c\u9a8c\u8bc1\uff0c\u68c0\u6d4b\u7ed3\u679c\u8bc1\u5b9e\u4e86\u4e0a\u8ff0\u63a8\u6d4b\u3002\u5bf9\u4e8e\u672c\u6848\u4f8b\u4e2d\u751f\u80b2\u9053\u8def\u4e0a\u5386\u7ecf\u78e8\u96be\u7684\u8fd9\u5bf9\u592b\u5987\u800c\u8a00\uff0c\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u63ed\u793a\u4e86\u95ee\u9898\u6839\u6e90\uff0c\u5408\u7406\u7684\u751f\u80b2\u89c4\u5212\u53ef\u4ee5\u907f\u514d\u4ed6\u4eec\u518d\u6b21\u8dcc\u5165\u540c\u4e00\u6761\u60b2\u5267\u4e4b\u6cb3\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u25c6 \u75c5\u4f8b\u6765\u6e90\uff1a\u9646\u519b\u519b\u533b\u5927\u5b66\u7b2c\u4e00\u9644\u5c5e\u533b\u9662\u5987\u4ea7\u79d1\u4ea7\u524d\u8bca\u65ad\u4e2d\u5fc3\uff0c\u662f\u5168\u519b\u8ba1\u5212\u751f\u80b2\u4f18\u751f\u4f18\u80b2\u6280\u672f\u4e2d\u5fc3\uff0c\u91cd\u5e86\u5e02\u9996\u6279\u6210\u7acb\u7684\u4ea7\u524d\u8bca\u65ad\u4e2d\u5fc3\u3002\u7acb\u8db3\u4e8e\u519b\u5730\u670d\u52a1\uff0c\u7ecf\u8fc7\u591a\u5e74\u7684\u53d1\u5c55\u672c\u4e2d\u5fc3\u5df2\u5efa\u7acb\u5b8c\u6574\u7684\u4ea7\u524d\u7b5b\u67e5\u3001\u4ea7\u524d\u8bca\u65ad\u3001\u5b55\u524d\u7b5b\u67e5\u4ee5\u53ca\u65b0\u751f\u513f\u7b5b\u67e5\u6280\u672f\u5e73\u53f0\uff0c\u5177\u5907\u8f83\u4e3a\u51fa\u8272\u7684\u9057\u4f20\u75c5\u8bca\u65ad\u4e0e\u54a8\u8be2\u3001\u4ea7\u524d\u7b5b\u67e5\u4e0e\u8bca\u65ad\u3001\u80ce\u513f\u5bab\u5185\u6cbb\u7597\u7ecf\u9a8c\u548c\u80fd\u529b\u3002<\/div>\n<div>\u00a0<\/div>\n<div>Pseudo-TORCH\u7efc\u5408\u5f81<\/div>\n<div>Pseudo-TORCH \u7efc\u5408\u5f81\u662f\u4e34\u5e8a\u8868\u73b0\u7c7b\u4f3c\u4e8e\u5148\u5929\u6027TORCH\u7efc\u5408\u5f81\u7684\u4e00\u7c7b\u591a\u7cfb\u7edf\u53d7\u7d2f\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5176\u4e2d2\u578b\u4e34\u5e8a\u7279\u5f81\u5305\u62ec\u80ce\u513f\u5bab\u5185\u65f6\u671f\u9885\u5185\u51fa\u8840\u3001\u9499\u5316\u3001\u8111\u7ed3\u6784\u7578\u5f62\u3001\u809d\u529f\u80fd\u4e0d\u5168\uff0c\u5e38\u4f34\u6709\u8840\u5c0f\u677f\u51cf\u5c11\u3002\u60a3\u8005\u5f80\u5f80\u6709\u547c\u5438\u529f\u80fd\u4e0d\u8db3\u548c\u766b\u75eb\u53d1\u4f5c\uff0c\u901a\u5e38\u5a74\u513f\u671f\u6b7b\u4ea1\u3002\u8be5\u75c5\u7684\u8d23\u4efb\u57fa\u56e0\u662fUSP18\uff0c\u9057\u4f20\u6a21\u5f0f\u4e3a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u3002\uff08\u53d7\u8bbf\u533b\u751f\u63d0\u4f9b\uff09<\/div>\n<div>\u00a0<\/div>\n<div>5\u5e74\u8f7b\u5988\u5988\u7a81\u53d1\u7f55\u89c1\u75c5\u00a0 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