{"id":136673,"date":"2026-09-08T12:23:03","date_gmt":"2026-09-08T03:23:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136673"},"modified":"2026-09-08T12:23:03","modified_gmt":"2026-09-08T03:23:03","slug":"alpha-1-antitrypsin-deficiency-serpina1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-1-antitrypsin-deficiency-serpina1\/","title":{"rendered":"\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u6b20\u4e4f\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u6b20\u4e4f\u75c7\u306f\u3001\u80ba\u3068\u809d\u81d3\u3092\u5b88\u308b\u306f\u305f\u3089\u304d\u3092\u3059\u308b\u305f\u3093\u3071\u304f\u8cea\uff08\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\uff09\u304c\u4e0d\u8db3\u3059\u308b\u3001\u3042\u308b\u3044\u306f\u7570\u5e38\u306a\u5f62\u3067\u4f5c\u3089\u308c\u3066\u3057\u307e\u3046\u75c5\u6c17\u3067\u3059\u3002<strong>SERPINA1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6210\u4eba\u3067\u306f\u80ba\u6c17\u816b\uff08COPD\uff09\u3001\u5c0f\u5150\u3067\u306f\u809d\u81d3\u306e\u75c5\u6c17<\/strong>\u3068\u3044\u3046\u5f62\u3067\u73fe\u308c\u307e\u3059\u3002\u6b27\u7c73\u3067\u306f\u6bd4\u8f03\u7684\u591a\u3044\u75c5\u6c17\u3067\u3059\u304c\u3001\u65e5\u672c\u4eba\u3067\u306f\u307e\u308c\u3067\u3059\u3002<strong>\u7981\u7159\u304c\u4e88\u5f8c\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>SERPINA1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u305f\u3093\u3071\u304f\u8cea\u306f\u809d\u81d3\u3067\u4f5c\u3089\u308c\u3066\u8840\u6db2\u4e2d\u306b\u51fa\u3066\u3044\u304d\u3001\u767d\u8840\u7403\u304c\u51fa\u3059\u300c\u597d\u4e2d\u7403\u30a8\u30e9\u30b9\u30bf\u30fc\u30bc\u300d\u3068\u3044\u3046\u9175\u7d20\u304c\u80ba\u306e\u7d44\u7e54\u3092\u58ca\u3057\u3059\u304e\u306a\u3044\u3088\u3046\u3001\u30d6\u30ec\u30fc\u30ad\u3092\u304b\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001\u30d6\u30ec\u30fc\u30ad\u304c\u8db3\u308a\u305a\u306b\u80ba\u304c\u58ca\u308c\u3066\u80ba\u6c17\u816b\u306b\u306a\u308a\u307e\u3059\u3002\u540c\u6642\u306b\u3001\u7570\u5e38\u306a\u5f62\u306e\u305f\u3093\u3071\u304f\u8cea\u304c\u809d\u81d3\u306e\u7d30\u80de\u306e\u306a\u304b\u306b\u305f\u307e\u308a\u3001\u809d\u81d3\u306e\u969c\u5bb3\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u3068\u304f\u306b <strong>Z\u578b\uff08PiZZ\uff09<\/strong>\u3067\u75c7\u72b6\u304c\u5f37\u304f\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\uff08\u304a\u3082\u306b\u6210\u4eba\uff09<\/strong>\uff1a\u606f\u5207\u308c\u3001\u6162\u6027\u306e\u54b3\u3068\u75f0\u3001<strong>\u82e5\u3044\u5e74\u9f62\u3067\u767a\u75c7\u3059\u308b\u80ba\u6c17\u816b\u30fbCOPD<\/strong>\uff08\u3068\u304f\u306b\u80ba\u306e\u4e0b\u306e\u65b9\u304b\u3089\u9032\u3080\uff09<\/li>\n\n\n\n<li><strong>\u809d\u81d3\uff08\u5c0f\u5150\u671f\u304b\u3089\uff09<\/strong>\uff1a\u65b0\u751f\u5150\u671f\u306e\u9077\u5ef6\u6027\u9ec4\u75b8\u3001\u809d\u6a5f\u80fd\u306e\u7570\u5e38\u3001\u809d\u786c\u5909\u3001\u6210\u4eba\u671f\u306e\u809d\u7d30\u80de\u304c\u3093<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u3001\u76ae\u819a\u306e\u75c7\u72b6\uff08\u8102\u80aa\u7e54\u708e\uff09\u3001\u8840\u7ba1\u708e<\/li>\n\n\n\n<li><strong>\u55ab\u7159\u306b\u3088\u308a\u80ba\u306e\u75c7\u72b6\u304c10\u301c15\u5e74\u65e9\u304f\u73fe\u308c\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u8840\u6db2\u4e2d\u306e\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u6fc3\u5ea6\u306e\u6e2c\u5b9a\u3068\u3001\u305f\u3093\u3071\u304f\u8cea\u306e\u578b\u3092\u8abf\u3079\u308b\u691c\u67fb\uff08\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u306b\u3088\u308bPi\u578b\u5224\u5b9a\uff09\u3067\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>SERPINA1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u300240\u301c50\u4ee3\u3067\u80ba\u6c17\u816b\u3092\u767a\u75c7\u3057\u305f\u65b9\u3001\u5bb6\u65cf\u306b\u540c\u69d8\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u306b\u306f\u691c\u67fb\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7981\u7159\uff08\u3082\u3063\u3068\u3082\u91cd\u8981\u3067\u3059\uff09<\/strong>\u3001\u53d7\u52d5\u55ab\u7159\u3084\u7c89\u3058\u3093\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li><strong>\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u88dc\u5145\u7642\u6cd5<\/strong>\uff08\u6b27\u7c73\u3067\u306f\u70b9\u6ef4\u306b\u3088\u308b\u88dc\u5145\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\uff09<\/li>\n\n\n\n<li>\u6c17\u7ba1\u652f\u62e1\u5f35\u85ac\u3001\u5438\u5165\u30b9\u30c6\u30ed\u30a4\u30c9\u3001\u547c\u5438\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u30fb\u80ba\u708e\u7403\u83cc\u30ef\u30af\u30c1\u30f3<\/li>\n\n\n\n<li>\u9032\u884c\u3057\u305f\u80ba\u6c17\u816b\u306b\u306f\u80ba\u79fb\u690d\u3001\u9032\u884c\u3057\u305f\u809d\u786c\u5909\u306b\u306f\u809d\u79fb\u690d<\/li>\n\n\n\n<li>\u809d\u7d30\u80de\u304c\u3093\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb\uff09<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>SERPINA1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>SERPINA1<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u30602\u3064\u306e\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u6c7a\u307e\u308a\u307e\u3059\uff08\u5171\u512a\u6027\uff09\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3069\u306e\u578b\u306e\u907a\u4f1d\u5b50\u3092\u304a\u6301\u3061\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u03b11-\u30a2\u30f3\u30c1\u30c8\u30ea\u30d7\u30b7\u30f3\u6b20\u4e4f\u75c7\u306f <strong>SERPINA1<\/strong>\uff0814q32.13\uff09\u306e\u5909\u7570\u306b\u3088\u308b\u3002\u907a\u4f1d\u5f62\u5f0f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u5171\u512a\u6027\uff08codominant\uff09<\/strong>\u3067\u3001\u4e21\u30a2\u30ec\u30eb\u306e\u7523\u7269\u304c\u305d\u308c\u305e\u308c\u8840\u4e2d\u6fc3\u5ea6\u306b\u5bc4\u4e0e\u3059\u308b\u3002\u6b63\u5e38\u30a2\u30ec\u30eb\u306fM\u3001\u4e3b\u8981\u306a\u5909\u7570\u30a2\u30ec\u30eb\u306f <strong>Z\uff08Glu342Lys\uff09<\/strong> \u3068 <strong>S\uff08Glu264Val\uff09<\/strong> \u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>PiZZ \u3067\u306f\u8840\u4e2d\u6fc3\u5ea6\u304c\u6b63\u5e38\u306e10\u301c15%\u306b\u4f4e\u4e0b\u3059\u308b\u3002Z\u5909\u7570\u4f53\u306f\u809d\u7d30\u80de\u5185\u3067\u91cd\u5408\u4f53\uff08polymer\uff09\u3092\u5f62\u6210\u3057\u3066\u5c0f\u80de\u4f53\u306b\u84c4\u7a4d\u3057\u3001<strong>\u809d\u969c\u5bb3\u306f\u300c\u6bd2\u6027\u7372\u5f97\uff08gain of toxic function\uff09\u300d\u3001\u80ba\u969c\u5bb3\u306f\u300c\u6a5f\u80fd\u55aa\u5931\uff08loss of function\uff09\u300d<\/strong>\u3068\u3044\u3046\u4e8c\u91cd\u306e\u6a5f\u5e8f\u3067\u751f\u3058\u308b\u3002\u3053\u306e\u70b9\u304c\u672c\u75c7\u306e\u75c5\u614b\u7406\u89e3\u306e\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u80ba\u6c17\u816b\u306f\u4e0b\u8449\u512a\u4f4d\u306e\u6c4e\u5c0f\u8449\u6027\u3067\u3001\u901a\u5e38\u306eCOPD\uff08\u4e0a\u8449\u512a\u4f4d\u306e\u5c0f\u8449\u4e2d\u5fc3\u6027\uff09\u3068\u5206\u5e03\u304c\u7570\u306a\u308b\u3002\u55ab\u7159\u8005\u3067\u306f\u975e\u55ab\u7159\u8005\u306b\u6bd4\u3079\u767a\u75c7\u304c10\u301c15\u5e74\u65e9\u304f\u3001\u751f\u547d\u4e88\u5f8c\u304c\u8457\u3057\u304f\u60aa\u5316\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u6b27\u7c73\uff08\u3068\u304f\u306b\u5317\u6b27\uff09\u3067\u306fPiZZ\u983b\u5ea6\u304c1\/2,000\u301c1\/5,000\u3068\u9ad8\u3044\u304c\u3001<strong>\u65e5\u672c\u4eba\u3067\u306fZ\u30fbS\u30a2\u30ec\u30eb\u306f\u304d\u308f\u3081\u3066\u307e\u308c<\/strong>\u3067\u3001\u65e5\u672c\u4eba\u75c7\u4f8b\u3067\u306fSiiyama\uff08Ser53Phe\uff09\u306a\u3069\u65e5\u672c\u56fa\u6709\u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u9759\u6ce8\u03b11-\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\u963b\u5bb3\u85ac\u306b\u3088\u308b\u88dc\u5145\u7642\u6cd5\u306f\u3001\u6b27\u7c73\u3067\u80ba\u6c17\u816b\u306e\u9032\u884c\u6291\u5236\u306b\u7528\u3044\u3089\u308c\u308b\u3002\u809d\u969c\u5bb3\u306b\u306f\u88dc\u5145\u7642\u6cd5\u306f\u7121\u52b9\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3044\u3061\u3070\u3093\u5927\u5207\u306a\u3053\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u7981\u7159<\/strong>\u3067\u3059\u3002\u55ab\u7159\u306b\u3088\u308a\u80ba\u306e\u75c7\u72b6\u304c10\u301c15\u5e74\u65e9\u304f\u73fe\u308c\u3001\u7d4c\u904e\u304c\u5927\u304d\u304f\u60aa\u304f\u306a\u308a\u307e\u3059\u3002\u53d7\u52d5\u55ab\u7159\u3082\u907f\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u80ba\u3068\u809d\u81d3\u306e\u4e21\u65b9\u306b\u75c7\u72b6\u304c\u51fa\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u80ba\u306f\u300c\u5b88\u308b\u305f\u3093\u3071\u304f\u8cea\u304c\u8db3\u308a\u306a\u3044\u300d\u305f\u3081\u306b\u58ca\u308c\u3001\u809d\u81d3\u306f\u300c\u7570\u5e38\u306a\u5f62\u306e\u305f\u3093\u3071\u304f\u8cea\u304c\u305f\u307e\u308b\u300d\u305f\u3081\u306b\u50b7\u3064\u304d\u307e\u3059\u3002\u539f\u56e0\u306f\u540c\u3058\u3067\u3082\u3001\u8d77\u3053\u308a\u65b9\u304c\u9055\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u672c\u4eba\u3067\u3082\u591a\u3044\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u65e5\u672c\u4eba\u3067\u306f\u307e\u308c\u3067\u3059\u3002\u6b27\u7c73\u3001\u3068\u304f\u306b\u5317\u6b27\u306b\u591a\u3044\u75c5\u6c17\u3067\u3001\u65e5\u672c\u4eba\u3067\u306f\u5225\u306e\u578b\u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u88dc\u5145\u7642\u6cd5\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6b27\u7c73\u3067\u306f\u70b9\u6ef4\u306b\u3088\u308b\u88dc\u5145\u7642\u6cd5\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u306f\u5171\u512a\u6027\u3068\u3044\u3046\u5f62\u5f0f\u3067\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u30602\u3064\u306e\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u91cd\u3055\u304c\u6c7a\u307e\u308a\u307e\u3059\u3002\u3054\u5bb6\u65cf\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Laurell CB, Eriksson S. The electrophoretic \u03b11-globulin pattern of serum in \u03b11-antitrypsin deficiency. <em>Scand J Clin Lab Invest<\/em>. 1963;15:132-140.<\/li>\n\n\n\n<li>Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. <em>Nature<\/em>. 1992;357(6379):605-607.<\/li>\n\n\n\n<li>Stoller JK, Aboussouan LS. A review of \u03b11-antitrypsin deficiency. <em>Am J Respir Crit Care Med<\/em>. 2012;185(3):246-259.<\/li>\n\n\n\n<li>Seyama K, Nukiwa T, Takabe K, et al. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. <em>J Biol Chem<\/em>. 1991;266(19):12627-12632.<\/li>\n\n\n\n<li>OMIM #613490 Alpha-1-antitrypsin deficiency<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136673","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136673","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136673\/revisions"}],"predecessor-version":[{"id":137043,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136673\/revisions\/137043"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136673"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}