{"id":1095,"date":"2020-02-01T17:53:29","date_gmt":"2020-02-01T08:53:29","guid":{"rendered":"\/text\/?page_id=1095"},"modified":"2020-03-20T10:56:09","modified_gmt":"2020-03-20T01:56:09","slug":"mutations-html","status":"publish","type":"page","link":"\/text\/?page_id=1095","title":{"rendered":"Mutations.html"},"content":{"rendered":"\n<p><a name=\"Mutations\"><\/a><\/p>\n\n\n\n<h1 class=\"wp-block-heading\">\u7a81\u7136\u5909\u7570<\/h1>\n\n\n\n<hr \/>\n<p style=\"text-align: right;\"><a href=\"\/text\/wp-content\/uploads\/2020\/03\/Kimball.png\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-3582\" src=\"\/text\/wp-content\/uploads\/2020\/03\/Kimball.png\" alt=\"Kimball\" width=\"414\" height=\"30\" \/><\/a><br\/>30 January 2020 \u7248\u3092\u7ffb\u8a33\u4e00\u90e8\u6539\u5909<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><b>\u3053\u306e\u30da\u30fc\u30b8\u306e\u5185\u5bb9<\/b><\/td><\/tr><tr><td>\n<ul>\n<li><a href=\"\/text\/?page_id=1095#point\">\u5358\u4e00\u5869\u57fa\u7f6e\u63db<\/a>\n<ul>\n<li><a href=\"\/text\/?page_id=1095#Missense\">\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#nonsense\">\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#silent\">\u30b5\u30a4\u30ec\u30f3\u30c8\u5909\u7570<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#splice\">\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570<\/a><\/li>\n<\/ul>\n<\/li>\n<li><a href=\"\/text\/?page_id=1095#insertions\">\u633f\u5165\u3068\u6b20\u5931<\/a>\n<ul>\n<li><a href=\"\/text\/?page_id=1095#fragile_x\">\u8106\u5f31 X \u67d3\u8272\u4f53\u75c7<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#polyglutamine\">\u30dd\u30ea\u30b0\u30eb\u30bf\u30df\u30f3\u75c5<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#MuscularDystrophy\">\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#ALS\">\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff08ALS\uff09<\/a><\/li>\n<\/ul>\n<\/li>\n<li><a href=\"\/text\/?page_id=1095#duplications\">\u91cd\u8907<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#translocations\">\u8ee2\u5ea7<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#Frequency_of_Mutations\">\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6<\/a>\n<ul>\n<li><a href=\"\/text\/?page_id=1095#Some_Examples\">\u3044\u304f\u3064\u304b\u306e\u75c7\u4f8b<\/a><\/li>\n<\/ul>\n<\/li>\n<li><a href=\"\/text\/?page_id=1095#MeasuringMutationRate\">\u7a81\u7136\u5909\u7570\u7387\u3092\u6e2c\u5b9a\u3059\u308b<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#Males_Contribute_More_Mutations_Than_Females\">\u7537\u6027\u306f\u5973\u6027\u306b\u6bd4\u3079\u7a81\u7136\u5909\u7570\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/a><\/li>\n<li><a href=\"\/text\/?page_id=1095#somatic\">\u4f53\u7d30\u80de vs. \u751f\u6b96\u7d30\u80de\u306e\u7a81\u7136\u5909\u7570<\/a><\/li>\n<\/ul>\n<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u751f\u304d\u305f\u7d30\u80de\u306b\u304a\u3044\u3066\uff0c <a href=\"\/text\/?page_id=718\">DNA<\/a> \u306f\uff0c\u3068\u304f\u306b <a href=\"\/text\/?page_id=713\">\u8907\u88fd<\/a> \u3055\u308c\u3066\u3044\u308b\u6642 ( \u771f\u6838\u751f\u7269\u306e <a href=\"\/text\/?page_id=639\">\u7d30\u80de\u5468\u671f<\/a> \u306e S \u671f ) \u306b \u5316\u5b66\u7684\u5909\u5316\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b\u3002\u3053\u308c\u3089\u306e\u5909\u5316\u306e\u307b\u3068\u3093\u3069\u306f\u3059\u3050\u306b\u4fee\u5fa9\u3055\u308c\u308b\u304c\uff0c\u4fee\u5fa9\u3055\u308c\u306a\u3044\u3082\u306e\u304c\u7a81\u7136\u5909\u7570\u3068\u306a\u308b\u3002\u3059\u306a\u308f\u3061\uff0c<b> DNA \u4fee\u5fa9\u304c\u5931\u6557\u306b\u7d42\u308f\u3063\u305f\u72b6\u6cc1<\/b> \u304c\u7a81\u7136\u5909\u7570\u306a\u306e\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><a href=\"\/text\/?page_id=711\">DNA \u306e\u4fee\u5fa9\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p><a name=\"point\"><\/a><br><a name=\"transition\"><\/a><br><a name=\"transversion\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5358\u4e00\u5869\u57fa\u7f6e\u63db single-base substitution<\/h2>\n\n\n\n<p>\uff11\u3064\u306e\u5869\u57fa\u304c\uff0c\u305f\u3068\u3048\u3070 A \u304c\u4ed6\u306e\u5869\u57fa\u306b\u7f6e\u63db\u3057\u305f\u5834\u5408\u3067\u3042\u308b\u3002\u3053\u306e\u3088\u3046\u306a\u5358\u4e00\u5869\u57fa\u7f6e\u63db\u306f <b>\u70b9\u7a81\u7136\u5909\u7570<\/b> \u3068\u3082\u547c\u3070\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><a href=\"\/text\/?page_id=459#purines%22\">\u30d7\u30ea<\/a><a href=\"\/text\/?page_id=459#purines%22\">\u30f3<\/a>\u5869\u57fa purine \uff08 A \u307e\u305f\u306f G\uff09 \u304c\u4ed6\u306e\u30d7\u30ea\u30f3\u5869\u57fa\u3078\uff0c\u3042\u308b\u3044\u306f <a href=\"\/text\/?page_id=459\">\u30d4\u30ea\u30df\u30b8<\/a><a href=\"\/text\/?page_id=459\">\u30f3<\/a>\u5869\u57fa pyrimidine \uff08 C \u307e\u305f\u306f T \uff09 \u304c\u4ed6\u306e\u30d4\u30ea\u30df\u30b8\u30f3\u5869\u57fa\u3068\u7f6e\u63db\u3057\u305f\u306e\u3067\u3042\u308c\u3070\uff0c\u3053\u308c\u306f <strong>\u30c8\u30e9\u30f3\u30b8\u30b7\u30e7\u30f3\u5909\u7570<\/strong> transition \u3068\u3044\u3046\u3002<\/p>\n\n\n\n<p>\u30d7\u30ea\u30f3\u5869\u57fa\u3068\u30d4\u30ea\u30df\u30b8\u30f3\u5869\u57fa\u9593\u306e\u5834\u5408\u306f<b> \u30c8\u30e9\u30f3\u30b9\u30d0\u30fc\u30b8\u30e7\u30f3\u5909\u7570<\/b> transversion \u3068\u3044\u3046\u3002<\/p>\n\n\n\n<p><a name=\"Missense\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570 Missense mutation<\/h3>\n\n\n\n<p>\u7f6e\u63db\u3057\u305f\u5869\u57fa\u304c\u672c\u6765\u306e <a href=\"\/text\/?page_id=1908\">\u30b3\u30c9\u30f3<\/a> \u3092\u5909\u3048\uff0c\u7570\u306a\u308b\u30a2\u30df\u30ce\u9178\u3078\u306e\u5909\u7570\u3068\u306a\u308b\u3082\u306e\u3092\u6307\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"alignright\"><a href=\"\/text\/wp-content\/uploads\/2020\/02\/SickleMutation.gif\"><img loading=\"lazy\" decoding=\"async\" width=\"393\" height=\"129\" src=\"\/text\/wp-content\/uploads\/2020\/02\/SickleMutation.gif\" alt=\"\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306e\u4f8b\uff1a\u938c\u72b6\u8d64\u8840\u7403\u8ca7\u8840\u75c7\" class=\"wp-image-2829\"\/><\/a><figcaption>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306e\u4f8b\uff1a\u938c\u72b6\u8d64\u8840\u7403\u8ca7\u8840\u75c7<\/figcaption><\/figure><\/div>\n\n\n\n<p><a name=\"sickle-cell_disease\"><\/a><br>\u4f8b\uff1a <b>\u938c\u72b6\u8d64\u8840\u7403\u8ca7\u8840\u75c7<\/b><\/p>\n\n\n\n<p>\u30d2\u30c8\u306e\u7b2c11\u756a\u67d3\u8272\u4f53\u306e<a href=\"\/text\/?page_id=497#oxygen\">\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3<\/a> \u306e \u03b2 \u9396\u306b\u95a2\u3059\u308b\u907a\u4f1d\u5b50\u306e 17 \u756a\u76ee\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306e A \u304c T \u306b\u7f6e\u304d\u63db\u308f\u308b\u3068\uff0c<a href=\"\/text\/?page_id=1908\">\u30b3\u30c9\u30f3<\/a> \u304c GAG ( <a href=\"\/text\/wp-content\/uploads\/2020\/01\/Aspglu.gif\">\u30b0\u30eb\u30bf\u30df\u30f3\u9178<\/a> glutamic acid \u3092\u30b3\u30fc\u30c9\u3059\u308b ) \u304b\u3089 GTG ( <a href=\"\/text\/wp-content\/uploads\/2020\/01\/Alaval.gif\">\u30d0\u30ea\u30f3<\/a> valine \u3092\u30b3\u30fc\u30c9\u3059\u308b ) \u306b\u5909\u308f\u308b\u3002\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306b\u3088\u308a\uff0c \u30d8\u30e2\u30b0\u30ed\u30d3\u30f3 \u03b2 \u9396\u306e 6 \u756a\u76ee\u306e\u30a2\u30df\u30ce\u9178\u304c\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u3067\u306f\u306a\u304f\u30d0\u30ea\u30f3\u306b\u7f6e\u63db\u3057\u305f\u4f8b\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"alignright\"><a href=\"\/text\/wp-content\/uploads\/2020\/02\/CF_Mutations.gif\"><img loading=\"lazy\" decoding=\"async\" width=\"308\" height=\"358\" src=\"\/text\/wp-content\/uploads\/2020\/02\/CF_Mutations.gif\" alt=\"CF_Mutations\" class=\"wp-image-2825\"\/><\/a><\/figure><\/div>\n\n\n\n<p>\u5225\u306e\u4f8b\uff1a <b>\u56a2\u80de\u6027\u7dda\u7dad\u75c7<\/b> cystic fibrosis \u3092\u3082\u3064\u60a3\u8005 A ( \u53f3\u56f3\u306e <b>Patient A <\/b>\u3092\u53c2\u7167 )\u3002<br><br><a name=\"nonsense\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570 Nonsense mutation<\/h3>\n\n\n\n<p>\u7f6e\u304d\u63db\u308f\u3063\u305f\u5869\u57fa\u306e\u305f\u3081\u306b\uff0c\u7279\u5b9a\u306e\u30a2\u30df\u30ce\u9178\u3092\u6307\u5b9a\u3059\u308b\u306f\u305a\u304c\uff0c\u30b9\u30c8\u30c3\u30d7\u30fb\u30b3\u30c9\u30f3\u306e\u3046\u3061\u306e 1 \u3064\uff08 <b>TAA<\/b>, <b>TAG<\/b>, \u307e\u305f\u306f <b>TGA<\/b> \uff09\u306b\u7f6e\u63db\u3057\u305f\u5909\u7570\u3067\u3042\u308b\u3002 \u305d\u306e\u305f\u3081\uff0c\u7a81\u7136\u5909\u7570\u907a\u4f1d\u5b50\u304b\u3089 <b>\u8ee2\u5199<\/b> \u3055\u308c\u305f\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc RNA \u306e <b><a href=\"\/text\/?page_id=449\">\u7ffb\u8a33<\/a><\/b> \u304c\u5b8c\u4e86\u3057\u306a\u3044\u307e\u307e\u306b\u7d42\u7d50\u3057\u3066\u3057\u307e\u3046\u3002\u3053\u306e\u5909\u7570\u304c\u8d77\u3053\u308b\u306e\u304c\u907a\u4f1d\u5b50\u5185\u3067\u65e9\u3051\u308c\u3070\u65e9\u3044\u307b\u3069\uff0c\u5408\u6210\u3055\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u77ed\u304f\u4e0d\u5b8c\u5168\u306a\u3082\u306e\u3067\uff0c\u6a5f\u80fd\u3092\u6301\u305f\u306a\u3044\u3082\u306e\u3068\u306a\u3063\u3066\u3057\u307e\u3046\u3002<\/p>\n\n\n\n<p>\u4f8b\uff1a\u53f3\u56f3\u306e <b>Patient B<\/b> \u3092\u53c2\u7167\u3002<\/p>\n\n\n\n<p><b><a name=\"cystic_fibrosis\"><\/a>\u56a2\u80de\u6027\u7dda\u7dad\u75c7<\/b> cystic fibrosis \u306e\u60a3\u8005\u3067\u3053\u308c\u307e\u3067\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u5909\u7570\u306e\u4f8b\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7a81\u7136\u5909\u7570\u306e\u305d\u308c\u305e\u308c\u306f\uff0c<strong>\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u819c\u8cab\u901a\u8abf\u7bc0\u56e0\u5b50<\/strong> <span style=\"text-decoration: underline;\"><b>c<\/b><\/span>ystic <span style=\"text-decoration: underline;\"><b>f<\/b><\/span>ibrosis <span style=\"text-decoration: underline;\"><b>t<\/b><\/span>ransmembrane conductance <span style=\"text-decoration: underline;\"><b>r<\/b><\/span>egulator ( <b>CFTR<\/b> ) \u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08 1,480 \u500b\u306e\u30a2\u30df\u30ce\u9178\u304b\u3089\u69cb\u6210\u3055\u308c\u308b \uff09\u3092\u30b3\u30fc\u30c9\u3059\u308b\u5de8\u5927\u306a\u907a\u4f1d\u5b50\u5185\u3067\u8d77\u3053\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u5869\u7d20\u30a4\u30aa\u30f3\u3068\u91cd\u70ad\u9178\u30a4\u30aa\u30f3\u3092\u7d30\u80de\u819c\u3092\u901a\u904e\u3057\u3066\u8f38\u9001\u3059\u308b\u306e\u306b\u50cd\u304f\u3002CFTR\u907a\u4f1d\u5b50\u306f\u7b2c 7\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3057\uff0c27\u306e\u30a8\u30af\u30bd\u30f3\u3092\u3082\u3064\u7d04230kb\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u56f3\u306e\u300c \u7a81\u7136\u5909\u7570 \u300d\u306e\u6b04\u306b\u793a\u3057\u305f\u6570\u5b57\u306f\u5909\u5316\u3057\u305f\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306e\u756a\u53f7\u3092\u8868\u308f\u3059\u3002\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b20\u9665\u306e\u305f\u3081\u306b\uff0c\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3002\u938c\u72b6\u8d64\u8840\u7403\u8ca7\u8840\u306e\u4f8b\u3068\u306f\u7570\u306a\u308a\uff0c\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u306e\u5834\u5408\u306b\u306f\u8907\u6570\u306e\u7a81\u7136\u5909\u7570\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u306e\u3042\u308b\u60a3\u8005\u306e\u4f8b\u3067\u306f ( \u53f3\u56f3\u306e <b>Patient B<\/b> ) \uff0c1,609 \u756a\u76ee\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9 C \u304c T \u306b\u7f6e\u304d\u63db\u308f\u3063\u305f\u305f\u3081\u306b\uff0c\u30b0\u30eb\u30bf\u30df\u30f3\u306e\u30b3\u30c9\u30f3 ( <b>CAG<\/b> ) \u304c\u30b9\u30c8\u30c3\u30d7\u30fb\u30b3\u30c9\u30f3 ( <b>TAG<\/b> ) \u306b\u5909\u5316\u3057\u3066\u3057\u307e\u3063\u305f\u4f8b\u3067\u3042\u308b\u3002\u3053\u306e\u60a3\u8005\u306b\u3088\u3063\u3066\u7523\u751f\u3055\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u6b63\u5e38\u306a 1,480 \u500b\u306e\u30a2\u30df\u30ce\u9178\u9396\u306e\u3046\u3061\u306e\u6700\u521d\u306e 493 \u500b\u3057\u304b\u306a\u3044\u305f\u3081\uff0c\u6b63\u5e38\u306b\u6a5f\u80fd\u3059\u308b\u3053\u3068\u306f\u306a\u3044\u3002<br><a name=\"silent\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30b5\u30a4\u30ec\u30f3\u30c8\u5909\u7570 Silent mutation \u975e\u8868\u73fe\u7a81\u7136\u5909\u7570<\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u30a2\u30df\u30ce\u9178\u306f\u3044\u304f\u3064\u304b\u306e\u7570\u306a\u308b <a href=\"\/text\/?page_id=1908\">\u30b3\u30c9\u30f3<\/a> \u306b\u3088\u3063\u3066\u30b3\u30fc\u30c9\u5316\u3055\u308c\u3066\u3044\u308b\u3002\u305f\u3068\u3048\u3070\uff0c<b>\u30bb\u30ea\u30f3<\/b> serine \u306e\u30b3\u30c9\u30f3 <b>TCT<\/b> \u306e 3 \u756a\u76ee\u304c\u4ed6\u306e 3 \u7a2e\u985e\u306e\u5869\u57fa\u306e 1 \u3064\u306b\u5909\u308f\u3063\u3066\u3082\uff0c\u307e\u3060\u30bb\u30ea\u30f3\u3092\u30b3\u30fc\u30c9\u5316\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u3088\u3046\u306a\u7a81\u7136\u5909\u7570\u3092\uff0c\u907a\u4f1d\u5b50\u7523\u7269\u306b\u5909\u5316\u304c\u306a\u304f\uff0c\u907a\u4f1d\u5b50 ( \u307e\u305f\u306f\u305d\u306e mRNA ) \u3092\u8abf\u3079\u306a\u3044\u3068\u691c\u51fa\u3067\u304d\u306a\u3044\u306e\u3067\uff0c\u30b5\u30a4\u30ec\u30f3\u30c8\u5909\u7570\u3068\u3044\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><a name=\"splice\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570 Splice-site mutation<\/h3>\n\n\n\n<p><a href=\"\/text\/?page_id=764#rna_processing\">mRNA <\/a><a href=\"\/text\/?page_id=764#rna_processing\">\u524d\u99c6\u4f53<\/a> \u304c\u51e6\u7406\u3055\u308c\u3066 mRNA \u304c\u5f62\u6210\u3055\u308c\u308b\u969b\u306e\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u6a5f\u69cb\u306b\u304a\u3044\u3066\uff0c <a href=\"\/text\/?page_id=764#rna_processing\">\u30a4\u30f3\u30c8\u30ed\u30f3<\/a> \u914d\u5217\u306f\u6975\u3081\u3066\u6b63\u78ba\u306b\u9664\u53bb\u3055\u308c\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u3002<\/p>\n\n\n\n<p>mRNA \u524d\u99c6\u4f53\u306e\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u304c\u8ee2\u5199\u7523\u7269\u306e\u4f55\u51e6\u3067\u8d77\u3053\u308b\u304b\u306f\uff0c\u30a4\u30f3\u30c8\u30ed\u30f3\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u914d\u5217\u3067\u6c7a\u3081\u3089\u308c\u3066\u3044\u308b\u3002\u7a81\u7136\u5909\u7570\u3067\u3053\u308c\u3089\u306e\u5869\u57fa\u306e 1 \u3064\u304c\u5909\u308f\u308b\u3068\uff0c\u30a4\u30f3\u30c8\u30ed\u30f3\u304c\u9664\u53bb\u3055\u308c\u305a\u306b\u6700\u7d42\u6bb5\u968e\u306e RNA \u5206\u5b50\u306e\u4e00\u90e8\u3068\u3057\u3066\u6b8b\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u914d\u5217\u3092\u7ffb\u8a33\u3057\u3066\u3082\uff0c\u7523\u751f\u3055\u308c\u308b\u3079\u304d\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u914d\u5217\u3068\u306f\u7570\u306a\u3063\u305f\u3082\u306e\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><a href=\"\/text\/?page_id=764#rna_processing\">RNA \u30d7\u30ed\u30bb\u30c3\u30b7\u30f3\u30b0\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p><a name=\"insertions\"><\/a><br><a name=\"deletions\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u633f\u5165 Insertion \u3068\u6b20\u5931 Deletion \uff08\u30a4\u30f3\u30c7\u30eb Indel \uff09<\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e DNA \u306b\u4f59\u5206\u306a\u5869\u57fa\u5bfe\u304c\u8ffd\u52a0\u3055\u308c\u308b\u304b ( <strong>\u633f\u5165<\/strong> insertion )\uff0c\u9006\u306b\u5869\u57fa\u5bfe\u304c\u9664\u53bb\u3055\u308c\u308b ( <strong>\u6b20\u5931<\/strong> deletion ) \u3053\u3068\u304c\u3042\u308b\u3002\u3053\u306e\u5834\u5408\u306e\u5869\u57fa\u306e\u6570\u306f 1 \u500b\u304b\u3089\u6570\u5343\u500b\u306b\u53ca\u3076\u3002\u633f\u5165\u307e\u305f\u306f\u6b20\u5931\u306e\u3069\u3061\u3089\u304b\u3042\u308b\u3044\u306f\u4e21\u65b9\u3092\u6307\u3057\uff0c<strong>\u30a4\u30f3\u30c7\u30eb<\/strong> indel <strong>\u633f\u5165\u6b20\u5931<\/strong>\u3068\u3082\u3044\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"\/text\/wp-content\/uploads\/2020\/02\/Frameshift.gif\" alt=\"\"\/><\/figure>\n\n\n\n<p>1 \u3064\u307e\u305f\u306f 2 \u3064\u306e\u5869\u57fa\u5bfe\uff08 \u307e\u305f\u306f2\u306e\u500d\u6570 \uff09\u306e\u633f\u5165\u3084\u6b20\u5931\u306b\u3088\u3063\u3066\uff0c\u907a\u4f1d\u5b50\u306e\u7ffb\u8a33\u304c <b>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8<\/b> \u3057\u3066\uff08 \u30b3\u30c9\u30f3\u306e\u8aad\u307f\u67a0\u304c\u305a\u308c\u3066\uff09 \u3057\u307e\u3046\u305f\u3081\uff0c\u5f71\u97ff\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3002 \u53f3\u56f3\u306b\u306f\uff0c\u8aad\u307f\u67a0\u304c\u53f3\u3078\u30cc\u30af\u30ec\u30aa\u30c1\u30c9 1 \u500b\u5909\u5316\u3057\u305f\u305f\u3081\u306b\uff0c\u540c\u3058\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306e\u914d\u5217\u3067\u3042\u308a\u306a\u304c\u3089\u30a2\u30df\u30ce\u9178\u914d\u5217\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u4f8b\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>mRNA \u306f 3 \u500b\u305a\u3064\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306e\u65b0\u3057\u3044\u7d44\u307f\u5408\u308f\u305b\u3067\u7ffb\u8a33\u3055\u308c\u308b\u304c\uff0c\u3053\u308c\u3089\u306e\u65b0\u3057\u3044\u30b3\u30c9\u30f3\u306b\u3088\u3063\u3066\u5408\u6210\u3055\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u672c\u6765\u306e\u6a5f\u80fd\u3092\u3082\u3064\u3053\u3068\u306f\u306a\u3044\u3002\u4e0a\u56f3\u306e\u4ed6\u306e 2 \u3064\u306e\u4f8b ( <b>Patients C \u3068 D<\/b> ) \u3092\u53c2\u7167\u306e\u3053\u3068\u3002<\/p>\n\n\n\n<p>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306b\u3088\u3063\u3066\u65b0\u305f\u306a <b>\u30b9\u30c8\u30c3\u30d7\uff65\u30b3\u30c9\u30f3<\/b> \u304c\u5f62\u6210\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\uff0c<b>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570<\/b> \u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u3053\u306e\u5834\u5408\u3082\uff0c\u5408\u6210\u3055\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u672c\u6765\u306e\u3082\u306e\u3068\u9055\u3044\u3059\u304e\u3066\uff0c\u7d30\u80de\u306b\u306f\u7121\u76ca\u306a\u3082\u306e\u3068\u306a\u3063\u3066\u3057\u307e\u3046\u3002<\/p>\n\n\n\n<p>3 \u500b\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u307e\u305f\u306f3\u306e\u500d\u6570\u306e\u633f\u5165\u3068\u6b20\u5931\u3067\u306f\uff0c\u30b3\u30c9\u30f3\u306e\u8aad\u307f\u67a0\u304c\u4fdd\u5b58\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u306b\u305d\u308c\u307b\u3069\u91cd\u5927\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u3044\u3053\u3068\u304c\u3042\u308b\uff08 \u4e0a\u56f3\u306e <b>Patient E<\/b> \u53c2\u7167 \uff09\u3002CFTR\u907a\u4f1d\u5b50\u3067\u306f1,000\u3092\u8d8a\u3048\u308b\u7a2e\u985e\u306e\u7a81\u7136\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u3066\u3044\u308b\u304c\uff0c<b>Patient E <\/b>\u306e\u6b20\u5931\u304c\u6700\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u4f8b\u3067\u3042\u308b\u3002<br><a name=\"huntington's_disease\"><\/a> <a name=\"trinucleotide_repeat\"><\/a><br>\u3057\u304b\u3057\uff0c\u540c\u4e00\u306e\u30c8\u30ea\u30d7\u30ec\u30c3\u30c8\u306e\u7e70\u308a\u8fd4\u3057\u304c\u633f\u5165\u3055\u308c\u308b\u3053\u3068\u3067\uff0c\u591a\u304f\u306e\u30d2\u30c8\u907a\u4f1d\u75c5\u304c\u8d77\u3053\u3063\u3066\u3044\u308b\u3002 <b>\u30cf\u30f3\u30c1\u30f3\u30c8\u30f3\u75c5<\/b> Huntington&#8217;s disease \u3068 <b>\u8106\u5f31 X \u67d3\u8272\u4f53\u75c7<\/b> fragile X syndrome \u306f\u3053\u306e\u4e09\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u53cd\u5fa9 \uff08\u30c8\u30ea\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u53cd\u5fa9\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u306e\u4f8b\u3067\u3042\u308b\u3002<br><a name=\"fragile_x\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u8106\u5f31X\u75c7\u5019\u7fa4 fragile X syndrome (FRA X)<\/h3>\n\n\n\n<p>\u30d2\u30c8\u306b\u304a\u3051\u308b\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u75c5\u3067\u306f\uff0c3\u500b\u307e\u305f\u306f4\u500b\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u304c\u5e7e\u5ea6\u3082\u7e70\u308a\u8fd4\u3057\u3066\u633f\u5165\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u3002\u30d2\u30c8\u306e X \u67d3\u8272\u4f53\u4e0a\u306b\u306f\uff0c\u30c8\u30ea\u30d7\u30ec\u30c3\u30c8 <b>CGG<\/b> \u304c\u53cd\u5fa9\u3055\u308c\u305f ( CGGCGGCGGCGG \u306a\u3069 ) \u90e8\u4f4d\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>CGG \u306e\u53cd\u5fa9\u56de\u6570\u306f 5 \u56de\u7a0b\u5ea6\u304b\u3089 50 \u56de\u307e\u3067\u306f\u6709\u5bb3\u306a<a title=\"Glossary.html\" href=\"\/text\/?page_id=297#Phenotype\">\u8868\u73fe\u578b<\/a>\u306f\u767a\u73fe\u3057\u306a\u3044\uff08 \u3053\u308c\u3089\u306e\u53cd\u5fa9\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306f\u907a\u4f1d\u5b50\u306e\u975e\u7ffb\u8a33\u9818\u57df\u306b\u3042\u308b \uff09\u3002100 \u56de\u7a0b\u5ea6\u306e\u53cd\u5fa9\u3067\u3082\u6709\u5bb3\u306a\u3053\u3068\u306f\u306a\u3044\u304c\uff0c\u3053\u308c\u3089\u306e\u53cd\u5fa9\u306f\u4e16\u4ee3\u6bce\u306b\uff08 4000 \u53cd\u5fa9\u7a0b\u307e\u3067 \uff09\u9577\u304f\u306a\u308b\u50be\u5411\u3092\u3082\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"\/text\/wp-content\/uploads\/2020\/02\/FragileX.gif\" alt=\"\"\/><\/figure>\n\n\n\n<p>\u53cd\u5fa9\u56de\u6570\u304c\u591a\u304f\u306a\u308b\u3068 X \u67d3\u8272\u4f53\u306f\u975e\u5e38\u306b\u8106\u5f31\u306b\u306a\u308a\uff0c\u7dca\u7e2e\u3059\u308b\u3088\u3046\u306b\u306a\u308b\u3002\u305d\u306e\u3088\u3046\u306aX\u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u3044\u3060\u7537\u6027\u306f\uff08 \u3082\u3061\u308d\u3093\u6bcd\u89aa\u304b\u3089 \uff09\u7cbe\u795e\u9045\u5ef6\u306a\u3069\u3092\u542b\u3080\u591a\u304f\u306e\u6709\u5bb3\u306a\u8868\u73fe\u578b\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p>\u8106\u5f31 X \u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u3044\u3060\u5973\u6027\u306f\uff08\u3053\u306e\u75c7\u5019\u7fa4\u3092\u3082\u3064\u7537\u6027\u306f\u7236\u89aa\u3068\u306a\u308b\u3053\u3068\u304c\u6ec5\u591a\u306b\u306a\u3044\u305f\u3081\uff0c \u307b\u3068\u3093\u3069\u306e\u5834\u5408\uff0c\u6bcd\u89aa\u304b\u3089\u8106\u5f31 X \u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b \uff09\u6bd4\u8f03\u7684\u8efd\u5fae\u306a\u75c7\u72b6\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p><span style=\"font-size: 1rem;\">\u53f3\u56f3\u306f\uff0c\u3042\u308b\u5bb6\u65cf\u306b\u304a\u3051\u308b\u8106\u5f31 X \u75c7\u5019\u7fa4\u306e\u7cfb\u7d71\u56f3\u306e\u4f8b\u3067\u3042\u308b\u3002\u30c8\u30ea\u30cc\u30af\u30ec\u30aa\u30c1\u30c9 <\/span><b style=\"font-size: 1rem;\">CGG<\/b><span style=\"font-size: 1rem;\"> \u306e\u53cd\u5fa9\u56de\u6570\u3092\u5404\u8a18\u53f7\u306e\u4e0b\u306b\u793a\u3057\u305f\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f X \u67d3\u8272\u4f53\u4e0a\u306b\u3042\u308b\u3002\u3057\u305f\u304c\u3063\u3066\uff0c\u5973\u6027\uff08\u5186\u5f62\u3067\u793a\u3057\u3066\u3042\u308b\uff09 \u306f 2 \u30b3\u30d4\u30fc\u3092\u3082\u3061 \uff08\u305d\u308c\u305e\u308c\u306e\u6570\u5b57\u304c\u793a\u3055\u308c\u3066\u3044\u308b\uff09\uff0c\u7537\u6027\uff08\u56db\u89d2\u3067\u793a\u3057\u3066\u3042\u308b \uff09 \u306f 1 \u30b3\u30d4\u30fc\u3060\u3051\u3067\u3042\u308b\u300280 &#8211; 90 \u53cd\u5fa9\u3092\u3082\u3064\u907a\u4f1d\u5b50\u3092\u3082\u3064\u4eba\u306f\u6b63\u5e38\u3067\u3042\u308b\u304c\uff08 \u8584\u3044\u8d64\u8272 \uff09\uff0c\u3053\u306e\u907a\u4f1d\u5b50\u306f\u4e0d\u5b89\u5b9a\u3067\uff0c\u53cd\u5fa9\u56de\u6570\u304c\u5b50\u5b6b\u306b\u4f1d\u308f\u308b\u3068\u6570\u767e\u306b\u5897\u52a0\u3057\u3066\u3057\u307e\u3046\u3002\u305d\u306e\u3088\u3046\u306a\u5897\u5927\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u7537\u6027\uff08\u8d64\u3044\u56db\u89d2\uff09\u306f<\/span><span style=\"font-size: 1rem;\">\u8106\u5f31 X \u75c7\u5019\u7fa4<\/span><span style=\"font-size: 1rem;\">\u3092\u767a\u75c7\u3059\u308b\u3002<\/span><span style=\"font-size: 1rem;\">(Data from C. T. Caskey, et al.)<\/span><br><a name=\"polyglutamine\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30dd\u30ea\u30b0\u30eb\u30bf\u30df\u30f3\u75c5 polyglutamine disease<\/h3>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u3067\u306f\uff0c\u53cd\u5fa9\u3055\u308c\u305f\u30c8\u30ea\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306fCAG\u3067\u3042\u308b\u3002\u305d\u3057\u3066\uff0c\u7ffb\u8a33\u3055\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u30b0\u30eb\u30bf\u30df\u30f3\uff08Gln\uff09\u9396\u3092\u4ed8\u52a0\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\uff0c\u4ee5\u4e0b\u306b\u793a\u3057\u305f\u3044\u308d\u3044\u308d\u306a\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u969c\u5bb3\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><a name=\"huntingtin\"><\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u30cf\u30f3\u30c1\u30f3\u30c8\u30f3\u75c5 Huntington&#8217;s Disease\u3000\u53cd\u5fa9\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u304c <b>CAG<\/b> \u3067\u3042\u308a\uff0c <b>huntingtin<\/b> \u3068\u3088\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u904e\u5270\u306a\u30b0\u30eb\u30bf\u30df\u30f3\uff08 <a href=\"\/text\/wp-content\/uploads\/2020\/01\/Asngln.gif\">Gln<\/a> \uff09\u9396\u304c\u52a0\u308f\u3063\u3066\u3044\u308b\u3002\u3053\u306e\u7570\u5e38\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u8133\u306e\u4e00\u90e8\u306b\u304a\u3051\u308b <b>\u30b7\u30ca\u30d7\u30b9\u4f1d\u9054<\/b> \u3092\u59a8\u5bb3\u3057\uff0c\u3053\u308c\u3089\u8133\u7d30\u80de\u306e <a href=\"\/text\/?page_id=1439\">\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9<\/a> apoptosis \u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u7d30\u80de\u306e\u6a5f\u80fd\u306b\u3069\u306e\u3088\u3046\u306b\u5f71\u97ff\u3059\u308b\u306e\u304b\u306f\u4e0d\u660e\u306a\u70b9\u304c\u591a\u3044\u3002<\/li><li>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5 Parkinson&#8217;s disease \u3000\u30bf\u30f3\u30d1\u30af\u8cea ataxin-2 \u306b\u904e\u5270\u306a\u30b0\u30eb\u30bf\u30df\u30f3\u9396\u304c\u4ed8\u52a0\u3055\u308c\u3066\u3044\u308b\u3002<\/li><\/ul>\n\n\n\n<p><a name=\"MuscularDystrophy\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc Muscular Dystrophy<\/h3>\n\n\n\n<p>\u767a\u75c7\u539f\u56e0\u306f\uff0c\u907a\u4f1d\u5b50\u306e\u975e\u7ffb\u8a33\u9818\u57df\u4e2d\u306e3\u5869\u57fa\u914d\u5217<strong>\uff08CTG)n <\/strong>\u307e\u305f\u306f4\u5869\u57fa\u914d\u5217<strong>\uff08CCTG)n<\/strong> \uff08n \u306f\u305d\u308c\u305e\u308c\u306e\u914d\u5217\u306e\u30ea\u30d4\u30fc\u30c8\u6570\uff09\u304c\uff0c\u7570\u5e38\u5897\u5927\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u3002\u30ea\u30d4\u30fc\u30c8\u6570\u306f\uff0c\u6b63\u5e38\u3067\u306f5\uff5e37\u56de\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\uff0c\u6570\u5343\u56de\u4ee5\u4e0a\u306b\u307e\u3067\u9054\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u5de8\u5927\u306b\u306a\u3063\u305fRNA\u8ee2\u5199\u7523\u7269\u306f\uff0c\u6838\u306b\u304a\u3051\u308b\u4ed6\u306e\u8ee2\u5199\u7523\u7269\u306e\u9078\u629e\u7684\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u3092\u963b\u5bb3\u3057\u3066\u3057\u307e\u3046\u3002<\/p>\n\n\n\n<p><a name=\"ALS\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7 Amyotrophic Lateral Sclerosis (ALS)<\/h3>\n\n\n\n<p>ALS\u306f\uff0c\u91cd\u7be4\u306a\u7b4b\u8089\u306e\u840e\u7e2e\u3068\u7b4b\u529b\u4f4e\u4e0b\u3092\u304d\u305f\u3059\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\uff0c\u6709\u540d\u306a\u60a3\u8005\u30eb\u30fc\u30fb\u30b2\u30fc\u30ea\u30c3\u30b0\uff08MLB\u9078\u624b\uff09\u304b\u3089\uff0c\u30eb\u30fc\u30fb\u30b2\u30fc\u30ea\u30c3\u30b0\u75c5(Lou Gehrig&#8217;s disease) \u3068\u3082\u547c\u3070\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u7b2c9\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u306b\u3042\u308b\u30d8\u30ad\u30b5\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30006\u5869\u57fa\u914d\u5217 GGGGCC \u306e\u53cd\u5fa9\u6570\u304c\uff0c\u6b63\u5e38\u3067\u306f36\u56de\u7a0b\u5ea6\u307e\u3067\u306a\u306e\u304c\uff0c700\uff5e\u6570\u5343\u56de\u307e\u3067\u7570\u5e38\u4f38\u5f35\u3057\u305f\u75be\u75c5\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u5869\u57fa\u53cd\u5fa9\u3092\u542b\u3080\u30bb\u30f3\u30b9\u9396\u3068\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u9396\u306e\u4e21\u65b9\u3092\u7ffb\u8a33\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\uff08\u304a\u305d\u3089\u304f3 \u3064\u306e reading frame \u306b\u304a\u3051\u308b\uff0c\u4f38\u9577GGGGCC \u304b\u3089\u306enon-ATG \u304b\u3089\u59cb\u307e\u308b\u7ffb\u8a33\u306b\u3088\u3063\u3066\uff09\uff0cpoly-(Gly-Ala\uff09\uff0cpoly-(Gly-Pro\uff09\u3068poly-(Gly-Arg\uff09\u306e\u30b8\u30da\u30d7\u30c1\u30c9\u7e70\u308a\u8fd4\u3057\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u542b\u3080\u3002<\/p>\n\n\n\n<p>\u3068\u304f\u306b\u30a2\u30eb\u30ae\u30cb\u30f3\uff08Arg\uff09\u3092\u542b\u3093\u3067\u3044\u308b\u3053\u308c\u3089\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8133\u7d30\u80de\u306b\u640d\u50b7\u3092\u4e0e\u3048\u308b\u51dd\u96c6\u4f53\u3092\u5f62\u6210\u3059\u308b\u3002<br><\/p>\n\n\n\n<a name=\"duplications\"><\/a>\n\n&nbsp;\n<h2 class=\"wp-block-heading\">\u91cd\u8907 duplication<\/h2>\n\n\n\n<p>\u91cd\u8907\u306f\u30b2\u30ce\u30e0\u306e\u4e00\u90e8\u304c\u6587\u5b57\u91cd\u8907\u3057\u305f\u305f\u3081\u306b\u8d77\u3053\u308b\u3002<a href=\"\/text\/?page_id=658\">\u6e1b\u6570\u5206\u88c2<\/a> meiosis \u6642\u306b\uff0c\u4e00\u76f4\u7dda\u306b\u6574\u5217\u3057\u3066\u3044\u306a\u3044\u59c9\u59b9\u67d3\u8272\u4f53\u9593\u3067\u4e57\u308a\u63db\u3048\u304c\u8d77\u3053\u308a\uff0c\u91cd\u8907\u907a\u4f1d\u5b50\u3092\u3082\u3063\u305f\u59c9\u59b9\u67d3\u8272\u4f53\u304c\u3067\u304d\u3066\u3057\u307e\u3044\uff0c\u3082\u3046\u4e00\u65b9\u3067\u306f\u6b20\u5931\u304c\u898b\u3089\u308c\u308b ( \u56f3\u3067\u306f\u7701\u7565 ) \u3002\u4e0b\u306b\u793a\u3057\u305f\u4f8b\u3067\u306f\uff0c\u91e3\u308a\u5408\u3044\u306e\u3068\u308c\u306a\u3044\u4e57\u308a\u63db\u3048\u304c\u8d77\u3053\u3063\u305f\u305f\u3081\uff0c\u30b9\u30c6\u30ed\u30a4\u30c9\u306e 1 \u7a2e\u3067\u3042\u308b <b>\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3<\/b> aldosterone \u306e\u5408\u6210\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u304c 2 \u30b3\u30d4\u30fc\u3067\u304d\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"\/text\/wp-content\/uploads\/2020\/02\/GeneDuplication.gif\" alt=\"\"\/><\/figure>\n\n\n\n<p>\u3057\u304b\u3057\uff0c\u3053\u306e\u65b0\u305f\u306b\u3067\u304d\u305f\u907a\u4f1d\u5b50\u306f\u4e0d\u9069\u5f53\u306a<a href=\"\/text\/?page_id=735 #The_Basal_Promoter\">\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc<\/a> promoter \u3092 5&#8242; \u672b\u7aef\u306b\u3082\u3064\u305f\u3081\u306b ( 11-beta hydroxylase \u907a\u4f1d\u5b50\u304b\u3089\u53d7\u3051\u3068\u3063\u305f ) \uff0c\u901a\u5e38\u306e\u907a\u4f1d\u5b50\u3088\u308a\u3082\u767a\u73fe\u304c\u5f37\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u3002\u7a81\u7136\u5909\u7570\u907a\u4f1d\u5b50\u306f\u512a\u6027\u3067\u3042\u308a\uff0c\u3053\u306e\u5bb6\u65cf\u306e\u3059\u3079\u3066\u306e\u69cb\u6210\u54e1 ( 4 \u4e16\u4ee3\u9593\u3092\u901a\u3057\u3066 ) \u304c\uff0c\u9ad8\u8840\u5727\u3092\u751f\u3058\u308b\u3053\u306e\u91cd\u8907\u3092\u3082\u3064\u67d3\u8272\u4f53\u3092\u5c11\u306a\u304f\u3068\u3082 1 \u672c\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u3002\u305d\u306e\u305f\u3081\uff0c\u8133\u5352\u4e2d\u3067\u65e9\u6b7b\u306b\u3059\u308b\u50be\u5411\u304c\u73fe\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u306f\u771f\u6838\u751f\u7269\u306e\u9032\u5316\u306e\u904e\u7a0b\u3067\u7e70\u308a\u8fd4\u3057\u8d77\u3053\u3063\u305f\u3002\u30b2\u30ce\u30e0\u89e3\u6790\u306b\u3088\u3063\u3066\uff0c 1 \u3064\u306e\u751f\u7269\u304c\u540c\u3058\u3088\u3046\u306a\u5869\u57fa\u914d\u5217\u3092\u3082\u3064\u907a\u4f1d\u5b50\u304c\u591a\u6570\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3002\u304a\u305d\u3089\u304f\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u5148\u7956\u4ee3\u3005\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3092\u7e70\u308a\u8fd4\u3057\u3066\u304d\u305f\u3053\u3068\u306b\u7531\u6765\u3059\u308b\u3068\u601d\u308f\u308c\u308b\u3010 \u3053\u308c\u3089\u3092<a title=\"Glossary.html\" href=\"\/text\/?page_id=297#Paralogous\">\u30d1\u30e9\u30ed\u30b0\u907a\u4f1d\u5b50<\/a> paralogous gene \u3068\u3044\u3046 \u3011\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u306f\uff0c\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5229\u70b9\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u9577\u3044\u9593\u306b\uff0c\u91cd\u8907\u9818\u57df\u306e\u3042\u308b\u90e8\u5206\u304c\u65b0\u3057\u3044\u6a5f\u80fd\u3092\u7372\u5f97\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<br>\u25a1\u3000\u91cd\u8907\u306b\u3088\u3063\u3066\u30b3\u30fc\u30c9\u3055\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7570\u306a\u308b\u6a5f\u80fd\u3092\u3082\u3064\u3053\u3068\u304c\u3042\u308b\u3002\u4f8b\u3048\u3070\uff0c\u6700\u521d\u306e\u907a\u4f1d\u5b50\u7523\u7269\u304c2\u3064\u306e\u7570\u306a\u308b\u6a5f\u80fd\uff08\u300c\u591a\u9762\u767a\u73fe\u300d\u3092\u53c2\u7167\uff09\u3092\u3082\u3064\u306a\u3089\u3070\uff0c\u5404\u3005\u306e\u8907\u88fd\u3055\u308c\u305f\u907a\u4f1d\u5b50\u306f\u4eca1\u3064\u306e\u6a5f\u80fd\u306b\u5c02\u9580\u5316\u3059\u308b\u3053\u3068\u304c\u3067\u304d\uff0c\u305d\u306e\u305f\u3081\u5143\u306e\u907a\u4f1d\u5b50\u3088\u308a\u591a\u6a5f\u80fd\u3068\u306a\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<br>\u25a1\u3000\u305d\u306e\u3088\u3046\u306b\u306a\u3089\u306a\u304b\u3063\u305f\u5834\u5408\u3067\u3082\uff0c\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u914d\u5217\uff08\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u3084\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u306b\u304a\u3051\u308b\u5909\u5316\u306b\u3088\u308a\uff0c\u540c\u3058\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7570\u306a\u308b\u6642\u671f\u306b\uff0c\u7570\u306a\u308b\u6fc3\u5ea6\u3067\uff0c\u3042\u308b\u3044\u306f\u307e\u305f\u7570\u306a\u308b\u7d44\u7e54\u3067\u767a\u73fe\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u5f97\u308b\u3002<\/li><li>\u3057\u304b\u3057\uff0c 2 \u500b\u306e\u30d1\u30e9\u30ed\u30b0\u907a\u4f1d\u5b50\u304c\u540c\u69d8\u306e\u914d\u5217\u3068\u6a5f\u80fd\u3092\u6301\u3063\u3066\u3044\u308b\u3068\uff0c\u305d\u308c\u3089\u306f\u5197\u9577\u6027\uff08 \u30d9\u30eb\u30c8\u3068\u30b5\u30b9\u30da\u30f3\u30c0\u30fc\u306e\u3088\u3046\u306a\u6a5f\u80fd\u306e\u91cd\u8907\u6027\uff09 \u3092\u793a\u3059\u3002\u3053\u306e\u3053\u3068\u304c\uff0c\u9175\u6bcd\u3084 &#8220;<a href=\"\/text\/?page_id=766#knockout\">\u30ce\u30c3\u30af\u30a2\u30a6\u30c8\u30fb\u30de\u30a6\u30b9<\/a>&#8221; \u306a\u3069\u3067\u907a\u4f1d\u5b50\u304c\u30ce\u30c3\u30af\u30a2\u30a6\u30c8\u3055\u308c\u3066\u3082\u8a8d\u8b58\u53ef\u80fd\u306a\u5f62\u3067\u73fe\u308c\u306a\u3044\u4e3b\u306a\u7406\u7531\u3068\u8003\u3048\u3089\u308c\u308b\u3002\u30ce\u30c3\u30af\u30a2\u30a6\u30c8\u3055\u308c\u305f\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306f\u30d1\u30e9\u30ed\u30b0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u53d7\u3051\u7d99\u304c\u308c\u308b\u3002<\/li><li>\u907a\u4f1d\u5b50\u91cd\u8907\u304c\u8d77\u3053\u308a\uff0c\u305d\u306e\u5f8c\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u4e00\u65b9\u304c\u4efb\u610f\u306b\u6b20\u5931\u3057\u305f\u308a\uff0c\u4e0d\u6d3b\u5316\u3057\u305f\u308a\u3059\u308b\u3002\u3053\u308c\u3089\u306e\u73fe\u8c61\u304c\u305d\u306e\u5b50\u5b6b\u306e\u5225\u3005\u306e\u96c6\u56e3\u3067\u8d77\u3053\u308b\u3068\uff0c\u7570\u7a2e\u4ea4\u914d\u304c\u907f\u3051\u3089\u308c\u308b\u6761\u4ef6\u3068\u306a\u3063\u3066\u3044\u304f\uff08\u3059\u306a\u308f\u3061\uff0c<a title=\"Glossary.html\" href=\"\/text\/?page_id=297#Reproductive_Isolation\">\u63a5\u5408\u5f8c\u9694\u96e2<\/a>\u3067\u3042\u308b\uff09\u3002\u305d\u306e\u3088\u3046\u306a\u9694\u96e2\u304c\u7a2e\u5206\u5316\u306b\u3064\u306a\u304c\u308a\uff08\u4e8c\u3064\u306e\u907a\u4f1d\u5b50\u30d7\u30fc\u30eb\u306e\u9593\u3067\u306e\u4ea4\u6d41\u304c\u884c\u308f\u308c\u306a\u304f\u306a\u308a\uff09\uff0c\u4e00\u3064\u306e\u5148\u7956\u7a2e\u304b\u3089\uff12\u3064\u306e\u7570\u306a\u308b\u7a2e\u306e\u9032\u5316\u306e\u53ef\u80fd\u6027\u304c\u751f\u3058\u308b\u3002<\/li><\/ul>\n\n\n\n<p><a name=\"translocations\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8ee2\u5ea7 translocation<\/h2>\n\n\n\n<p>\u8ee2\u5ea7\u306f\uff0c\u3042\u308b\u67d3\u8272\u4f53\u306e\u4e00\u90e8 \u304c<b>\u975e\u76f8\u540c\u67d3\u8272\u4f53<\/b> \u3078\u8ee2\u79fb\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u3002\u8ee2\u5ea7\u306f\u3057\u3070\u3057\u3070\u76f8\u4e92\u306b\u8d77\u3053\u308a\uff0c 2 \u672c\u306e\u975e\u76f8\u540c\u67d3\u8272\u4f53\u9593\u3067\u4ea4\u63db\u304c\u8d77\u3053\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"alignleft\"><a href=\"\/text\/wp-content\/uploads\/2020\/02\/Translocation8-14.gif\"><img loading=\"lazy\" decoding=\"async\" width=\"292\" height=\"234\" src=\"\/text\/wp-content\/uploads\/2020\/02\/Translocation8-14.gif\" alt=\"Translocation(8-14)\" class=\"wp-image-2830\"\/><\/a><\/figure><\/div>\n\n\n\n<p>\u8ee2\u5ea7\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u304c\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u907a\u4f1d\u5b50 <b>\u5185<\/b> \u3067\u8ee2\u5ea7\u304c\u8d77\u3053\u308b\u3068\uff0c\u5869\u57fa\u914d\u5217\u306e\u7834\u58ca\u304c\u8d77\u3053\u308b\u306e\u3067\u305d\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306b\u5f71\u97ff\u3057\u3066\u3057\u307e\u3046\u3002<\/li><li>\u8ee2\u5ea7\u3057\u305f\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u3068\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3088\u3046\u306b\u306a\u308a\uff0c\u305d\u306e\u672c\u6765\u306e\u767a\u73fe\u304c\u5909\u308f\u3063\u3066\u3057\u307e\u3046\u3002\u3053\u306e\u4f8b\u3068\u3057\u3066\uff0c\u30d0\u30fc\u30ad\u30c3\u30c8\u30fb\u30ea\u30f3\u30d1\u816b Burkitt&#8217;s Lymphoma \u306e t(8;14) \u8ee2\u5ea7\u304c\u3042\u308b\u3002<\/li><li>\u907a\u4f1d\u5b50 <b>\u5185<\/b> \u306b\u5206\u65ad\u70b9\u304c\u751f\u3058\uff0c\uff12\u3064\u306e\u907a\u4f1d\u5b50\u3092\u878d\u5408\u3057\u3066\u3057\u307e\u3046\u4f8b\u3082\u3042\u308b\u3002\u76f8\u4e92\u8ee2\u5ea7\u306b\u3088\u3063\u3066\u751f\u3058\u305f\u878d\u5408\u907a\u4f1d\u5b50\u304c\u8ee2\u5199\u30fb\u7ffb\u8a33\u3055\u308c\u305f\u7d50\u679c\uff0c\u6b63\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e N \u672b\u7aef\u3092\u3082\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e C \u672b\u7aef\u304c\u7d50\u5408\u3057\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5408\u6210\u3055\u308c\u308b\u3002<b>\u6162\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5<\/b> chronic myelogenous leukemia ( <b>CML<\/b> ) \u306e\u60a3\u8005\u306e\u767d\u8840\u7403\u306b\u3057\u3070\u3057\u3070\u8a8d\u3081\u3089\u308c\u308b<a name=\"cml\"><\/a>\u30d5\u30a3\u30e9\u30c7\u30eb\u30d5\u30a3\u30a2\u67d3\u8272\u4f53 Philadelphia chromosome \u304c\u3053\u306e\u878d\u5408\u907a\u4f1d\u5b50\uff08<em><strong>BCR-ABL<\/strong><\/em>\u907a\u4f1d\u5b50\uff09\u3092\u4f5c\u3063\u3066\u3057\u307e\u3046\u30bf\u30a4\u30d7\u306e\u8ee2\u5ea7\u306e\u4f8b\u3067\u3042\u308b\u3002<\/li><\/ul>\n\n\n\n<p><a name=\"Frequency_of_Mutations\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6<\/h2>\n\n\n\n<p>\u7a81\u7136\u5909\u7570\u306e\u767a\u751f\u7387\u306f\u4f4e\u3044\u3002\u3053\u308c\u306f\u9a5a\u304f\u3079\u304d\u3053\u3068\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u30d2\u30c8\u306f\u4e21\u89aa\u304b\u3089 3 x 10<sup>9<\/sup> \u5869\u57fa\u5bfe\u306e DNA \u3092\u53d7\u3051\u7d99\u3050\u3002 <a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#point\">\u5358\u4e00\u5869\u57fa\u7f6e\u63db<\/a> single-base substitution \u3092\u8003\u3048\u3066\u307f\u308b\u3068\uff0c\u5404\u7d30\u80de\u306f \u5869\u57fa\u7f6e\u63db\u306e\u6a19\u7684\u3068\u306a\u308a\u5f97\u308b\u5869\u57fa\u5bfe\u309260 \u5104 ( 6 x 10<sup>9<\/sup> ) \u3082\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u306a\u308b\u3002<\/p>\n\n\n\n<p>DNA \u304c\u8907\u88fd\u3055\u308c\u308b\u6642\u306b\u6700\u3082\u8d77\u3053\u308a\u6613\u3044\u306e\u304c\u5358\u4e00\u5869\u57fa\u7f6e\u63db\u3067\uff0c\u771f\u6838\u751f\u7269\u3067\u306f <a href=\"\/text\/?page_id=639\">\u7d30\u80de\u5468\u671f\u306e S \u671f<\/a> \u306b\u8d77\u3053\u308a\u3084\u3059\u3044\u3002<\/p>\n\n\n\n<p>100% \u306e\u6b63\u78ba\u5ea6\u3067\u7269\u4e8b\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u306f\u307e\u305a\u306a\u3044\u3002\u6700\u3082\u512a\u79c0\u306a\u30bf\u30a4\u30d4\u30b9\u30c8\u3067\u3082\uff0c\u539f\u7a3f\u4f5c\u6210\u6642\u306b\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308a\u5f97\u308b\u3002DNA\u8907\u88fd\u306b\u304a\u3044\u3066\u3082\u30a8\u30e9\u30fc\u306f\u8d77\u3053\u308a\u5f97\u308b\u306e\u3067\u3042\u308b\u3002\u52e4\u52c9\u306a\u30bf\u30a4\u30d4\u30b9\u30c8\u306e\u3088\u3046\u306b\uff0c\u7d30\u80de\u306b\u306f\u305d\u306e\u30b3\u30d4\u30fc\u306e\u7cbe\u5ea6\u3092\u78ba\u8a8d\u3059\u308b\u4ed5\u7d44\u307f\u3092\u3082\u3064\u304c\uff0c\u305d\u308c\u3067\u3082\u30a8\u30e9\u30fc\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u30d2\u30c8\u3084\u4ed6\u306e\u54fa\u4e73\u52d5\u7269\u3067\u306f\uff0c\u4fee\u6b63\u3055\u308c\u306a\u3044\u30a8\u30e9\u30fc ( \u3059\u306a\u308f\u3061\uff0c\u7a81\u7136\u5909\u7570 ) \u304c 5 \u5343\u4e07 ( 5 x 10<sup>7<\/sup> ) \u500b\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3092\u5f15\u304d\u6e21\u3059\u3046\u3061\u306b\u7d04 1 \u56de\u306e\u5272\u5408\u3067\u8d77\u3053\u308b\u3002\uff08\u305d\u3093\u306a\u306b\u60aa\u304f\u306a\u3044\u3058\u3083\u306a\u3044\u304b\uff01\u3000\u305d\u308c\u307b\u3069\u6b63\u78ba\u306b\u30bf\u30a4\u30d7\u3092\u6253\u3066\u308c\u3070\u3044\u3044\u306a\u3041\u3002\uff09<\/p>\n\n\n\n<p>\u3057\u304b\u3057\uff0c\u30d2\u30c8\u306e\u7d30\u80de\u306b\u306f\u5869\u57fa\u5bfe\u304c 6 x 10<sup>9<\/sup> \u500b\u3042\u308b\u306e\u3067\uff0c\u3053\u308c\u304b\u3089\u3044\u304f\u3068\u305d\u308c\u305e\u308c\u306e\u65b0\u3057\u3044\u7d30\u80de\u306b\u306f 120 \u500b\u7a0b\u5ea6\u306e\u7a81\u7136\u5909\u7570\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u306b\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u5fc3\u914d\u3059\u3079\u304d\u3060\u308d\u3046\u304b\uff1f\u3000\u4f55\u3082\u5206\u304b\u3089\u306a\u3044\u306e\u306b\u3002<\/p>\n\n\n\n<p>\u6211\u3005\u306eDNA\u306e\u672c\u306e1.2\uff05\u304c\u5168\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30a8\u30af\u30bd\u30f3\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\uff0c\u9577\u3044\u9593\uff0c\u6b8b\u308a\u306e\u307b\u3068\u3093\u3069\u306f\u30b8\u30e3\u30f3\u30afDNA\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u305f\u3002\u305d\u306e\u90e8\u5206\u306b\u7a81\u7136\u5909\u7570\u304c\u8d77\u3053\u3063\u3066\u3082\uff0c\u5bb3\u306f\u307b\u3068\u3093\u3069\u306a\u3044\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<p>\u4e07\u304c\u4e00\u306b\u3082\u7ffb\u8a33\u9818\u57df\u304c\u7a81\u7136\u5909\u7570\u3057\u305f\u3068\u3057\u3066\u3082\uff0c\u540c\u7fa9\u30b3\u30c9\u30f3\u304c\u3042\u308b\u306e\u3067\u5909\u7570\u907a\u4f1d\u5b50\u306f\u540c\u3058\u30a2\u30df\u30ce\u9178\u306b\u7ffb\u8a33\u3057\u3066\u304f\u308c\uff0c\u540c\u3058\u6a5f\u80fd\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u9020\u3063\u3066\u304f\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u4eca\uff0c\u6211\u3005\u306eDNA\u306e80\uff05\u7a0b\u304c\uff0c\u6211\u3005\u306e\u8eab\u4f53\u3092\u69cb\u6210\u3059\u308b\u591a\u7a2e\u985e\u306e\u5206\u5316\u7d30\u80de\u306e\u305d\u308c\u305e\u308c\u304c\u6804\u990a\u7d20\u3084\u30db\u30eb\u30e2\u30f3\u306a\u3069\u306e\u4fe1\u53f7\u306b\u53cd\u5fdc\u3057\u3066\uff0c\u3069\u306e\u907a\u4f1d\u5b50\u304c\uff0c\u3069\u306e\u7a0b\u5ea6\u767a\u73fe\u3059\u3079\u304d\u304b\u306b\u4f55\u3089\u304b\u306e\u304b\u305f\u3061\u3067\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3088\u3046\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\uff0c\u3053\u308c\u3089\u306e\u9818\u57df\u3067\u7a81\u7136\u5909\u7570\u304c\u8d77\u3053\u308b\u3068\uff0c\u308f\u305a\u304b\u306a\u5909\u7570\u3067\u3042\u3063\u305f\u3068\u3057\u3066\u3082\u6975\u3081\u3066\u6709\u5bb3\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<p>\u810a\u690e\u52d5\u7269\u306e\u30b2\u30ce\u30e0\u914d\u5217\u304c\u6c7a\u5b9a\u3055\u308c\u308b\u306b\u3064\u308c\uff0c\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u306a\u3044DNA\u306e\u3042\u308b\u914d\u5217\u306b\u3082\u62d8\u308f\u3089\u305a\uff0c\u810a\u690e\u52d5\u7269\u306e\u9032\u5316\u306e\u904e\u7a0b\u3067\u304b\u306a\u308a\u4fdd\u5b58\u3055\u308c\u3066\u304d\u305f\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u9818\u57df\u306e\u4e00\u90e8\u306f\uff0c\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306b\u6bd4\u3079\u3066\u7a81\u7136\u5909\u7570\u304c\u8d77\u3053\u308b\u983b\u5ea6\u304c\u4f4e\u304f\uff0c\u3053\u308c\u3089\u306e\u914d\u5217\u304c\u3053\u306e\u751f\u7269\u306e\u7e41\u6804\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\uff0c\u30b2\u30ce\u30e0\u306e\u4ed6\u306e\u9818\u57df\u306f\u76ee\u306b\u660e\u3089\u304b\u306a\u5bb3\u3092\u3082\u305f\u306a\u3044\u70b9\u7a81\u7136\u5909\u7570\u3092\u7dad\u6301\u3057\u3066\u3044\u308b\u3088\u3046\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u306e\u7814\u7a76\u6210\u679c\u304b\u3089\uff0c\u5358\u7d30\u80de\u751f\u7269\u306e\u30b2\u30ce\u30e0\u306e\u7ffb\u8a33\u9818\u57df\u306e\u5869\u57fa\u914d\u5217\u304c\u6c7a\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u4e88\u5099\u6bb5\u968e\u306e\u7814\u7a76\u6210\u679c\u306b\u3088\u308a\uff0c\u6210\u4eba\u306e\u6b63\u5e38\u7d30\u80de\u3067\u3067\u306f\u7d0420\u500b\u307b\u3069\u306e\u7a81\u7136\u5909\u7570\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u3066\uff0c\u305d\u306e\u5909\u7570\u306e\u7a2e\u985e\u306f\u7d30\u80de\u3054\u3068\u306b\u7570\u306a\u3063\u3066\u3044\u308b\u3002\uff08\u304c\u3093\u7d30\u80de\u3067\u306f\uff0c\u3057\u3070\u3057\u3070\u6570\u767e\u306b\u3082\u53ca\u3076\u307b\u3069\u3055\u3089\u306b\u591a\u304f\u306e\u7a81\u7136\u5909\u7570\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u308b\u3002\uff09<\/p>\n\n\n\n<p>\u8868\u73fe\u578b\u3092\u5909\u3048\u3066\u3057\u307e\u3046\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6\u306b\u3064\u3044\u3066\u306f\u3069\u306e\u3088\u3046\u306b\u6e2c\u5b9a\u3067\u304d\u308b\u3060\u308d\u3046\u304b\uff1f\u3000\u30d2\u30c8\u3067\u306f\u7c21\u5358\u3067\u306f\u306a\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u7b2c\u4e00\u306b\uff0c\u7a81\u7136\u5909\u7570\u304c\u65b0\u305f\u306b\u8d77\u3053\u3063\u3066\u3044\u304f\u72b6\u6cc1\u3092\u78ba\u5b9a\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u3002\uff08\u3042\u308b\u96c6\u56e3\u3067\u306f\u7279\u5b9a\u306e\u7a81\u7136\u5909\u7570\u304c\u9ad8\u7387\u3067\u8d77\u3053\u308b\u304c\uff0c\u305d\u306e\u907a\u4f1d\u5b50\u304c\u3068\u304f\u306b\u5f71\u97ff\u3055\u308c\u3084\u3059\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u304f\uff0c\u521d\u671f\u306e\u5275\u59cb\u8005\u5909\u7570\u304c\u4ee3\u3005\u4f1d\u308f\u3063\u3066\u304d\u305f\u305f\u3081\u3067\u3042\u308b\u3002\uff09<\/li><li><span style=\"font-size: 1rem;\">\u52a3\u6027\u7a81\u7136\u5909\u7570\uff08\u305d\u308c\u3089\u306e\u307b\u3068\u3093\u3069\uff09\u306f\u7236\u65b9\u3068\u6bcd\u65b9\u306e\u53cc\u65b9\u304c\u540c\u3058\u7a81\u7136\u5909\u7570\u907a\u4f1d\u5b50\u3067\u3042\u308b\u5834\u5408\u306b\u306e\u307f\u767a\u73fe\u3059\u308b\u3002<\/span><\/li><li><span style=\"font-size: 1rem;\">\u6b21\u306e\u907a\u4f1d\u5b50\u306e\u5834\u5408\u306b\u306f\uff0c\u7a81\u7136\u5909\u7570\u983b\u5ea6\u3092\u63a8\u5b9a\u3067\u304d\u308b\u3002<br><\/span>\u25a1\u3000\u5e38\u67d3\u8272\u4f53\u512a\u6027\u5f62\u8cea<br>\u25a1\u3000X\u67d3\u8272\u4f53\u9023\u9396\u52a3\u6027\u5f62\u8cea\u30fcX \u67d3\u8272\u4f53 \u4e0a\u306e\u52a3\u6027\u5f62\u8cea\u306b\u3064\u3044\u3066\u306f\uff0c\u7537\u6027\u306f 1 \u672c\u306e X \u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u3050\u306e\u3067\uff0c\u7537\u6027\u306b\u306e\u307f\u767a\u73fe\u3059\u308b\u3002<\/li><\/ul>\n\n\n\n<p>\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6\u306f\u3069\u3046\u3057\u3066\u6e2c\u5b9a\u3067\u304d\u308b\u3060\u308d\u3046\u304b\uff1f\u3000\u30d2\u30c8\u306e\u5834\u5408\u3067\u306f\u5bb9\u6613\u3067\u306f\u306a\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u307e\u305a\uff0c\u65b0\u305f\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3092\u78ba\u8a8d\u3057\u306a\u3044\u3068\u3044\u3051\u306a\u3044\u3002( \u3042\u308b\u96c6\u56e3\u304c\u7279\u5b9a\u306e\u7a81\u7136\u5909\u7570\u3092\u9ad8\u3044\u983b\u5ea6\u3067\u3082\u3064\u3053\u3068\u304c\u3042\u308b\u3002\u3053\u308c\u306f\u907a\u4f1d\u5b50\u304c\u7279\u5225\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u3044\u306e\u3067\u306f\u306a\u304f\uff0c\u3042\u308b\u7956\u5148\u304b\u3089\u4f55\u4e16\u4ee3\u306b\u3082\u4e98\u3063\u3066\u4f1d\u308f\u3063\u3066\u304d\u305f\u305f\u3081\u3067\u3042\u308b\u3002[ <a href=\"\/text\/?page_id=1072#example_1\">\u3053\u306e\u4f8b\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a> ] \uff09<\/li><li>\u4e21\u89aa\u304c\u305d\u306e\u5b50\u4f9b\u306e\u540c\u4e00\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u7a81\u7136\u5909\u7570\u3092\u8d77\u3053\u3059\u539f\u56e0\u306b\u306a\u308b\u5e0c\u306a\u4f8b\u3092\u9664\u3044\u3066\u306f\uff0c\u52a3\u6027\u306e\u7a81\u7136\u5909\u7570 ( \u305d\u308c\u3089\u306e\u307b\u3068\u3093\u3069\u304c\u305d\u3046\u3067\u3042\u308b ) \u3092\u78ba\u8a8d\u3067\u304d\u308b\u3053\u3068\u306f\u306a\u3044\u3002\u3042\u308b\u96c6\u56e3\u306b\u52a3\u6027\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u306e\u307f\uff0c\u305d\u306e\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6\u3092\u63a8\u5b9a\u3067\u304d\u308b\u3002<\/li><li>\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u907a\u4f1d\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5834\u5408\uff0c\u7a81\u7136\u5909\u7570\u983b\u5ea6\u3092\u63a8\u5b9a\u3067\u304d\u308b\u3002\n<ul>\n<li><b>\u5e38\u67d3\u8272\u4f53\u512a\u6027<\/b><\/li>\n<li><b>X-\u9023\u9396\u52a3\u6027 <\/b>; \u3059\u306a\u308f\u3061\uff0c<a href=\"\/text\/?page_id=753#x-linkage\">X \u67d3\u8272\u4f53<\/a> \u4e0a\u306e\u52a3\u6027\u5f62\u8cea\u306b\u3064\u3044\u3066\u306f\uff0c\u7537\u6027\u306f 1 \u672c\u306e X \u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u3050\u306e\u3067\uff0c\u7537\u6027\u306b\u306e\u307f\u767a\u73fe\u3059\u308b\u3002<\/li>\n<\/ul>\n<\/li><\/ul>\n\n\n\n<p><a name=\"Some_Examples\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u3044\u304f\u3064\u304b\u306e\u75c7\u4f8b<\/h3>\n\n\n\n<p>\u914d\u5076\u5b50\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u5ea7\u306b\u8d77\u3053\u308b\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6\u3068\u3057\u3066\u8868\u308f\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li><b>\u5e38\u67d3\u8272\u4f53\u512a\u6027<\/b> autosomal dominant\n<ul>\n<li><b>\u7db2\u819c\u82bd\u7d30\u80de\u816b<\/b> Retinoblastoma<br><em><b>RB<\/b> <\/em>\u907a\u4f1d\u5b50\uff1a\u7d04\u767e\u4e07\u56de\u306b 8 \u56de ( 8 x 10<sup>-6<\/sup> )<\/li>\n<li><b>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7<\/b> Osteogenesis imperfecta<br>\u30bf\u30a4\u30d7 I <a href=\"\/text\/?page_id=297#Collagen\">\u30b3\u30e9\u30fc\u30b2\u30f3<\/a> \u3092\u30b3\u30fc\u30c9\u3059\u308b 2 \u3064\u306e\u907a\u4f1d\u5b50\u306e\u3046\u3061\u306e\u3069\u3061\u3089\u304b\uff1a \u7d04 100,000 \u56de\u306b 1 \u56de ( 10<sup>-5<\/sup> )<\/li>\n<li>\u5927\u8178\u306e\u30dd\u30ea\u30fc\u30d7 ( \u5f8c\u306b\u30ac\u30f3\u5316\u3059\u308b ) \u306b\u306a\u308b\u907a\u4f1d\u7684\u50be\u5411<br>\u30ac\u30f3\u6291\u5236\u907a\u4f1d\u5b50 ( \u5927\u8178\u817a\u816b\u69d8\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9 <em><strong>APC<\/strong><\/em> \u907a\u4f1d\u5b50 ) :\u3000\u7d04 100,000 \u56de\u306b 1 \u56de \uff08 \u7d04 10<sup>-5<\/sup> \uff09<\/li>\n<\/ul>\n<\/li><li><b>X-\u9023\u9396\u52a3\u6027<\/b> X-linked recessive\n<ul>\n<li>A \u578b\u8840\u53cb\u75c5<br>~3 x 10<sup>-5<\/sup> ( <b>\u7b2c 8 \u56e0\u5b50<\/b> Factor VIII \u907a\u4f1d\u5b50)<\/li>\n<li><a href=\"\/text\/?page_id=791#MD\">\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc <\/a>Duchenne Muscular Dystrophy ( DMD )<br>8 x 10<sup>-5 <\/sup>\u4ee5\u4e0a ( <b>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3<\/b> dystrophin \u907a\u4f1d\u5b50 )<br>\u306a\u305c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u7a81\u7136\u5909\u7570\u306e\u983b\u5ea6\u304c\u4ed6\u306e\u3082\u306e\u306b\u6bd4\u3079\u3066\u975e\u5e38\u306b\u9ad8\u3044\u306e\u304b\uff1f \u3053\u308c\u306f\u304a\u305d\u3089\u304f\u5927\u304d\u3055\u306e\u554f\u984c\u3067\u3042\u308d\u3046\u3002\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u306f 2.4 x 10<sup>6<\/sup> \u5869\u57fa\u5bfe\u306e\u914d\u5217\u304b\u3089\u306a\u308b DNA \u3067\u3042\u308b\u3002\u3053\u308c\u306f\u30d2\u30c8\u306e\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u307b\u3068\u3093\u3069 0.1% \u306b\u306a\u308b\u3002\u305d\u306e\u3088\u3046\u306a\u5de8\u5927\u306a\u907a\u4f1d\u5b50\u306b\u306f\u640d\u50b7\u306e\u6a5f\u4f1a\u3082\u9ad8\u304f\u306a\u308b\u3002<\/li>\n<\/ul>\n<\/li><\/ul>\n\n\n\n<p><a name=\"MeasuringMutationRate\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u7a81\u7136\u5909\u7570\u7387\u3092\u6e2c\u5b9a\u3059\u308b<\/h2>\n\n\n\n<p>\u7279\u5b9a\u306e\u7a81\u7136\u5909\u7570\uff08\u4f8b\u3048\u3070\uff0c\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a81\u7136\u5909\u7570\uff09\u304c\u4eba\u53e3\u5f53\u305f\u308a\u3067\u898b\u3089\u308c\u308b\u983b\u5ea6\u306f\uff0c\u7a81\u7136\u5909\u7570\u7387\u306e\u5927\u307e\u304b\u306a\u8fd1\u4f3c\u5024\u3092\u4e0e\u3048\u3066\u304f\u308c\u308b\u3002\u3059\u306a\u308f\u3061\uff0c\u65b0\u898f\u7a81\u7136\u5909\u7570\u7387\u3067\u3042\u308b\u3002\u3053\u308c\u3089\u306f\u5076\u767a\u6027\u306b\u3088\u308b\u3082\u306e\u3067\uff0c\u3053\u308c\u307e\u3067\u306b\u3082\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u91cd\u8981\u306a\u8981\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>(\u6b63\u307e\u305f\u306f\u8ca0\u306e\uff09\u81ea\u7136\u9078\u629e<\/li><li>\u6a5f\u4f1a\u7684\u6d6e\u52d5<\/li><li>\u5275\u59cb\u8005\u52b9\u679c<\/li><\/ul>\n\n\n\n<p>\u3055\u3089\u306b\uff0c\u7a81\u7136\u5909\u7570\u3092\u96c6\u8a08\u3059\u308b\u305f\u3081\u306b\u306f\uff0c\u8868\u73fe\u578b\u306b\u76ee\u306b\u898b\u3048\u305f\u7a81\u7136\u5909\u7570\u306e\u5f71\u97ff\u304c\u73fe\u308c\u3066\u3044\u306a\u3044\u3068\u3044\u3051\u306a\u3044\u3002\u3068\u3053\u308d\u304c\uff0c\u4ee5\u4e0b\u306e\u8981\u56e0\u3067\u8d77\u3053\u308b\u7a81\u7136\u5909\u7570\u306f\u76ee\u306b\u898b\u3048\u3066\u3053\u306a\u3044\u4e8b\u4f8b\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u975e\u7ffb\u8a33\u9818\u57dfDNA\u306b\u304a\u3051\u308b\u591a\u304f\u306e\u7a81\u7136\u5909\u7570<\/li><li>\u540c\u7fa9\u30b3\u30c9\u30f3\u3092\u751f\u307f\u51fa\u3059\u7a81\u7136\u5909\u7570<\/li><li>\u5316\u5b66\u7684\u306b\u985e\u4f3c\u3057\u305f\u30a2\u30df\u30ce\u9178\u3092\u30b3\u30fc\u30c9\u3057\u305f\u65b0\u898f\u30b3\u30c9\u30f3\u3092\u751f\u307f\u51fa\u3059\u7a81\u7136\u5909\u7570<\/li><li>\u907a\u4f1d\u5b50\u52b9\u679c\u3092\u7121\u52b9\u306b\u3059\u308b\u304c\uff0c\u305d\u306e\u6a5f\u80fd\u306f\u91cd\u8907\u3057\u3066\u3044\u308b\u305f\u3081\u306b\u4ed6\u306e\u907a\u4f1d\u5b50\u3067\u88dc\u6b63\u3067\u304d\u308b\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570<\/li><\/ul>\n\n\n\n<p>\u3057\u304b\u3057\uff0c\u4eca\u65e5\uff0c\u3053\u308c\u3089\u306e\u554f\u984c\u306f\u89e3\u6c7a\u3055\u308c\u305f\u3002\u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\uff0cD. R.Denver \u3089\u306b\u3088\u3063\u3066 Nature \u306e2004\u5e748\u67085\u65e5\u53f7\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>Denver DR, Morris K, Lynch M, Thomas WK.: High mutation rate and predominance of insertions in the <em>Caenorhabditis elegans<\/em> nuclear genome. <a href=\"https:\/\/www.researchgate.net\/journal\/1476-4687_Nature\" target=\"_blank\" rel=\"noopener noreferrer\">Nature<\/a> 430(7000):679-682, 2004.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">Denver\u3089\u306e\u65b9\u6cd5<\/h4>\n\n\n\n<ul class=\"wp-block-list\"><li>\u5b9f\u9a13\u751f\u7269\uff1a\u7dda\u866b<\/li><li>\u7dda\u866b\u306e\u5229\u70b9\uff1a<br>\u25a1\u3000\u30b2\u30ce\u30e0\u30b5\u30a4\u30ba\u304c<a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#CompactGenome\">\u30b3\u30f3\u30d1\u30af\u30c8<\/a>\u3067\u3042\u308b\u3002<br>\u25a1\u3000\u96cc\u96c4\u540c\u4f53\uff08hermaphrodite\uff09\u30fc\u3000\u81ea\u3089\u53d7\u7cbe\u3057\u3066\uff0c\u65b0\u898f\u306e\u751f\u6b96\u7d30\u80de\u5909\u7570\u304c\u4e21\u65b9\u306e\u76f8\u540c\u67d3\u8272\u4f53\u4e0a\u3067\u6b20\u5931\u3057\u305f\u308a\u51fa\u73fe\u3057\u305f\u308a\uff0c\u3044\u305a\u308c\u304b\u304c\u767a\u751f\u3059\u308b\u3002<br>\u25a1\u3000<span style=\"font-size: 1rem;\">\u305d\u306e\u4e16\u4ee3\u304c\u77ed\u3044\uff08\u308f\u305a\u304b4\u65e5\u7a0b\u5ea6\u3067\u5375\u304b\u3089\u6210\u866b\u307e\u3067\u6210\u9577\u3059\u308b\uff09\u3002<\/span><\/li><li>\u7570\u306a\u3063\u305f198\u306e\u5b9f\u9a13\u7cfb\u5217\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b\u3002<\/li><li>\u81ea\u7136\u9078\u629e\u304c\u6700\u5c0f\u306b\u306a\u308b\u3088\u3046\u306b\u98fc\u80b2\u3055\u308c\u3066\u3044\u308b\u3002<\/li><li>\u65b0\u3057\u3044\u4e16\u4ee3\u3054\u3068\u306b\uff0c\u5fc5\u305a1\u5339\u306e\u5b50\u304c\u98fc\u80b2\u3055\u308c\u305f\u3002<\/li><li>\u5404\u7cfb\u7d71\u306f\u6570\u767e\u4e16\u4ee3\u7dad\u6301\u3055\u308c\u3066\u3044\u305f\u3002<\/li><li>\u5b9f\u9a13\u7d42\u4e86\u6642\u306b\u306f\uff0c\u4ee5\u4e0b\u306e\u6761\u4ef6\u306eDNA\u30b5\u30f3\u30d7\u30eb\u3092\u5206\u6790\u3057\u305f\u3002<br>\u25a1\u30006\u672c\u306e\u7dda\u866b\u67d3\u8272\u4f53\u3054\u3068\u306b\u8907\u6570\u306e\u90e8\u4f4d\u306eDNA\u914d\u5217<br>\u25a1\u3000198\u7cfb\u7d71\u306b\u3064\u3044\u3066\uff0c\u5e73\u5747\u3067\u7d0421,000\u500b\u306e\u5869\u57fa\u5bfe\u306e\u914d\u5217\u304c\u6c7a\u5b9a\u3055\u308c\uff0c\u81ea\u7136\u500b\u4f53\u7fa4\u306e\u540c\u4e00\u907a\u4f1d\u5b50\u5ea7\u306e\u914d\u5217\u3068\u6bd4\u8f03\u3057\u305f\u3002<\/li><\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Denver\u3089\u306e\u7d50\u679c<\/h4>\n\n\n\n<p>\u7dda\u866b\u304b\u3089\u5f97\u3089\u308c\u305fDNA\u914d\u5217\uff08\u5408\u8a08\u30674\u767e\u4e07\u5869\u57fa\u5bfe\u306b\u3082\u53ca\u3076\uff09\u3092\u5206\u6790\u3057\u3066\uff0c\u5bfe\u7167\u533a\u3068\u6bd4\u8f03\u3057\u3066\u5408\u8a0830\u4f8b\u306e\u7a81\u7136\u5909\u7570\u304c\u7a81\u304d\u3068\u3081\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u3053\u306e\u3046\u306117\u4f8b\u304c<a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#insertions\">\u633f\u5165\u307e\u305f\u306f\u6b20\u5931<\/a>\uff08\u30a4\u30f3\u30c7\u30eb\uff09\u3067\u3042\u3063\u305f\u3002<br>\u25a1\u3000\u30a8\u30af\u30bd\u30f3\u306b\u304a\u3044\u30667\u4f8b\u30fc\u3053\u306e\u3046\u3061\u306e2\u4f8b\u3067\u306f<a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#insertions\">\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8<\/a>\u306b\u3088\u308b\u65b0\u305f\u306a\u30b9\u30c8\u30c3\u30d7\u30fb\u30b3\u30c9\u30f3\u304c\u51fa\u73fe\u3057\u3066\u3044\u305f\u3002<br>\u25a1\u3000\u30a4\u30f3\u30c8\u30ed\u30f3\u306b\u304a\u3044\u306610\u4f8b<\/li><li>\u3053\u306e\u3046\u306113\u4f8b\u304c<a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#point\">\u5358\u5869\u57fa\u7f6e\u63db<\/a>\uff08\u70b9\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u3063\u305f\u3002<br>\u25a1\u3000\u30a8\u30af\u30bd\u30f3\u306b\u304a\u3044\u30663\u4f8b\uff1a1\u4f8b\u306f\u540c\u7fa9\u30b3\u30c9\u30f3\u3092\u9020\u308b<a title=\"Mutations.html\" href=\"\/text\/?page_id=1095#silent\">\u30b5\u30a4\u30ec\u30f3\u30c8\u5909\u7570<\/a>\uff0c2\u4f8b\u306f\u30b3\u30fc\u30c9\u3055\u308c\u305f\u30a2\u30df\u30ce\u9178\u304c\u5909\u66f4\u3057\u3066\u3057\u307e\u3063\u305f\u3002<br>\u25a1\u3000\u30a4\u30f3\u30c8\u30ed\u30f3\u306b\u304a\u3044\u306610\u4f8b<\/li><\/ul>\n\n\n\n<p><a name=\"CompactGenome\"><\/a><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><strong>\u7dda\u866b\u30b2\u30ce\u30e0\u306e\u7279\u5fb4<\/strong><\/td><\/tr><tr><td>\u7dda\u866b\u30b2\u30ce\u30e0\u306f\u3001\u304a\u3088\u305d1\u5104\u306e\u5869\u57fa\u914d\u5217\u304b\u3089\u306a\u308b\u3002\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u3088\u308a\uff0c\u73fe\u572819,000\u500b\u306e\u907a\u4f1d\u5b50\u304c\u30b2\u30ce\u30e0\u4e0a\u3067\u4e88\u6e2c\u3055\u308c\u3066\u3044\u308b\uff08\u9a5a\u304f\u3079\u304d\u3053\u3068\u306b\u3053\u306e\u6570\u306f\u30d2\u30c8\u30b2\u30ce\u30e0\u4e0a\u306e\u4e88\u6e2c\u907a\u4f1d\u5b50\u6570\u3068\u307b\u307c\u540c\u7a0b\u5ea6\u3067\u3042\u308b\uff09\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h4 class=\"wp-block-heading\">Denver\u3089\u306e\u7d50\u679c\u304b\u3089\u7a81\u7136\u5909\u7570\u7387\u3092\u8a08\u7b97\u3059\u308b<\/h4>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7d50\u679c\u304b\u3089\uff0c\u304a\u3088\u305d\u306e\u5076\u767a\u7a81\u7136\u5909\u7570\u304c\u30b2\u30ce\u30e0\u3092\u901a\u3057\u3066\u8d77\u3053\u308b\u7387\u3092\u8a08\u7b97\u3057\u3066\u307f\u305f\u3002<\/p>\n\n\n\n<p>\u7a81\u7136\u5909\u7570\u7387 = \u89b3\u5bdf\u3055\u308c\u305f\u7a81\u7136\u5909\u7570\u306e\u6570 [30]&nbsp; \u00f7 \uff08\u5b9f\u9a13\u306b\u7528\u3044\u3089\u308c\u305f\u7cfb\u7d71\u6570 [198]&nbsp; \u00d7 \u5e73\u5747\u4e16\u4ee3\u6570 [339]&nbsp; \u00d7 \u914d\u5217\u3092\u6c7a\u5b9a\u3057\u305f\u5e73\u5747\u5869\u57fa\u5bfe\u6570 [\uff5e21,000] \uff09<\/p>\n\n\n\n<p>\u4ee5\u4e0a\u304b\u3089\uff0c<strong>\u7a81\u7136\u5909\u7570\u30002.1\u3000\u00d7\u300010<sup>-8<\/sup>\u3000\u56de\uff0f\u5869\u57fa\u5bfe\uff0f\u4e16\u4ee3<\/strong>\u3000\u3068\u8a08\u7b97\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u7dda\u866b\u306e\u5168\u30b2\u30ce\u30e0\u306f\u7d0410<sup>8<\/sup> \u500b\u306e\u5869\u57fa\u5bfe\u3092\u542b\u3093\u3067\u3044\u308b\u306e\u3067\uff0c\u6bce\u4e16\u4ee3\uff0c\u7dda\u866b\u306e\uff12\u500b\u306e\u534a\u6570\u4f53\u30b2\u30ce\u30e0\u306e\u305d\u308c\u305e\u308c\u306e\u3069\u3053\u304b\u3067\uff0c\u751f\u6b96\u7d30\u80de\u5909\u7570\u304c\uff12\u56de\u8d77\u3053\u308b\u3082\u306e\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u30b7\u30e7\u30a6\u30b8\u30e7\u30a6\u30d0\u30a8\uff08\u305d\u306e\u30b2\u30ce\u30e0\u306f\u7dda\u866b\u30b2\u30ce\u30e0\u3068\u307b\u307c\u540c\u3058\u30b5\u30a4\u30ba\u3067\u3042\u308b\uff09\u306b\u304a\u3051\u308b\u540c\u69d8\u306e\u5206\u6790\u3067\u3082\uff0c\u540c\u7a0b\u5ea6\u306e\u7a81\u7136\u5909\u7570\u7387\u304c\u793a\u3055\u308c\u3066\u3044\u308b\uff1a\uff5e10<sup>-8<\/sup>&nbsp;\u56de\uff0f\u5869\u57fa\u5bfe\uff0f\u4e16\u4ee3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u690d\u7269\u30b7\u30ed\u30a4\u30cc\u30ca\u30ba\u30ca\u3067\u306f\uff0c\u305d\u306e\u5076\u767a\u7a81\u7136\u5909\u7570\u7387\u306f\u3001\u308f\u305a\u304b\u306b\u4f4e\u304f\uff0c\uff5e10<sup>-9<\/sup>&nbsp;\u56de\uff0f\u5869\u57fa\u5bfe\uff0f\u4e16\u4ee3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>Roach JC. \u3089\u306f\uff0cScience 2020\u5e744\u670830\u65e5\u53f7\u3067\uff0c\u30d2\u30c8\u306b\u304a\u3051\u308b\u7a81\u7136\u5909\u7570\u7387\u3082\u540c\u3058\u7bc4\u56f2\u306b\u3042\u308b\uff0c\u3059\u306a\u308f\u3061\u534a\u6570\u4f53\u30b2\u30ce\u30e0\u306e\u5869\u57fa\u5bfe\u5f53\u305f\u308a\uff5e1.1 \u00d7 10<sup>-8<\/sup> \u56de\u3067\u3042\u308b\u3053\u3068\u3092\u5831\u544a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>6 \u00d7 10<sup>9<\/sup>\u500b\u306e\u5869\u57fa\u5bfe\u306e\u4e8c\u500d\u4f53\u30b2\u30ce\u30e0\u3092\u3082\u3064\u5404\u3005\u306e\u5b50\u4f9b\u3067\u306f\u7d0470\u307b\u3069\u306e\u65b0\u3057\u3044\u7a81\u7136\u5909\u7570\u304c\u8d77\u3053\u308b\u3082\u306e\u3068\u7b97\u5b9a\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u5f7c\u3089\u306f\u30012\u4eba\u306e\u5b50\u4f9b\u305f\u3061\u3068\u5f7c\u3089\u306e\u4e21\u89aa\u306e\u5b8c\u5168\u306a\u30b2\u30ce\u30e0\u914d\u5217\u3092\u6bd4\u8f03\u3057\u3066\u3053\u308c\u3089\u306e\u6570\u3092\u63a8\u5b9a\u3057\u305f\u3002<\/p>\n\n\n\n<p>Cell\u306e2012\u5e747\u670820\u65e5\u53f7\u3067\uff0cWang J.\u3089\u306f40\u6b73\u306e\u7537\u6027\u304b\u3089\u5f97\u3089\u308c\u305f8\u500b\u306e\u7cbe\u5b50\u306e\u5869\u57fa\u914d\u5217\u3092\u5206\u6790\u3057\u305f\u7d50\u679c\u3092\u5831\u544a\u3057\uff0c\u7a81\u7136\u5909\u7570\u7387\u306f 2.0 \u00d7 10<sup>-8<\/sup> \uff5e 3.8 \u00d7 10<sup>-8<\/sup> \u306e\u7bc4\u56f2\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u3088\u3046\u306a\u5076\u767a\u7a81\u7136\u5909\u7570\u7387\u3092\u5fc3\u914d\u3059\u3079\u304d\u3067\u3042\u308d\u3046\u304b\uff1f<\/p>\n\n\n\n<p>\u9ad8\u3059\u304e\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3002<\/p>\n\n\n\n<p>\u975e\u7ffb\u8a33\u9818\u57df\u306eDNA\u306e\u5272\u5408\u304c\u9ad8\u3044\u306e\u3067\uff0c\u591a\u304f\u306e\u7a81\u7136\u5909\u7570\u306f\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u3044\u9818\u57df\u3067\u8d77\u3053\u3063\u3066\u3044\u308b\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<p>\u8a3c\u62e0\uff1a8\u500b\u306e\u7cbe\u5b50\u3067\u691c\u51fa\u3055\u308c\u305f251\u4f8b\u306e\u7a81\u7136\u5909\u7570\u306e\u3046\u3061\uff0c3\u4f8b\u306e\u307f\u304c\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u907a\u4f1d\u5b50\u7523\u7269\u304c\u5909\u66f4\u3055\u308c\u3066\u3044\u305f\u3002\u3057\u304b\u3057\uff0c\u975e\u7ffb\u8a33\u9818\u57df\u306eDNA\u3067\u3082\u70b9\u7a81\u7136\u5909\u7570\u306f\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u306b\u5f71\u97ff\u3059\u308b\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<p>\u305d\u3057\u3066\uff0c\u5b50\u4f9b\u306b\u907a\u4f1d\u3059\u308b\u70b9\u7a81\u7136\u5909\u7570\u306f10\uff05\u306b\u3082\u53ca\u3073\uff0c\u308f\u305a\u304b\u3060\u3068\u3057\u3066\u3082\u6709\u5bb3\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<p><a name=\"Males_Contribute_More_Mutations_Than_Females\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u7537\u6027\u306f\u5973\u6027\u306b\u6bd4\u3079\u7a81\u7136\u5909\u7570\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/h2>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u7a81\u7136\u5909\u7570\u304c\u7d30\u80de\u5206\u88c2\u306e S \u671f\u306b\u8d77\u3053\u308b\u3068\u3059\u308b\u3068\uff0c\u7537\u6027\u306f\u3088\u308a\u5371\u967a\u306a\u72b6\u614b\u306b\u3042\u308b\u3002\u3059\u306a\u308f\u3061\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u5375\u5b50\u306b\u3064\u3044\u3066\u307f\u308b\u3068\uff0c\u5973\u5b50\u306e\u80da\u767a\u751f\u3092\u958b\u59cb\u3057\u305f\u53d7\u7cbe\u5375\u304b\u3089\u6570\u3048\u3066\u305f\u304b\u3060\u304b 24 \u56de\u7a0b\u5ea6\u306e\u6709\u7cf8\u5206\u88c2\u3092\u7d4c\u3066\u3044\u308b\u3060\u3051\u3067\uff0c\u5c06\u6765\u306e\u5375\u5b50\u3068\u306a\u308b\u7d30\u80de\u306f\u3079\u3064\u306b\u306a\u3063\u3066\u3044\u308b ( \u5f7c\u5973\u304c\u751f\u307e\u308c\u308b\u306f\u308b\u304b\u524d\u306b\u5b8c\u4e86\u3057\u3066\u3044\u308b ) \u3002<\/li><li>\u3053\u308c\u306b\u53cd\u3057\uff0c30 \u6b73\u306e\u7537\u6027\u306e\u7cbe\u5b50\u306f\uff0c\u5f7c\u3092\u5f62\u6210\u3057\u305f\u53d7\u7cbe\u5375\u304b\u3089\u6570\u3048\u3066\u5c11\u306a\u304f\u3068\u3082 400 \u56de\u306e\u6709\u7cf8\u5206\u88c2\u3092\u7d4c\u305f\u5f8c\u7d99\u7d30\u80de\u3067\u3042\u308b\u3053\u3068\u306b\u306a\u308b\u3002<\/li><\/ul>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u7236\u89aa\u304c\u6bcd\u89aa\u306b\u6bd4\u3079\u308b\u3068\u5b50\u4f9b\u306b\u65b0\u305f\u306a\u7a81\u7136\u5909\u7570\u3092\u4f1d\u3048\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3002<br>\u25a1\u300025\u6b73\u306e\u7537\u6027\u306e\u7cbe\u5b50\u306f45\u4f8b\u307b\u3069\u306e\u65b0\u898f\u7a81\u7136\u5909\u7570\u304c\u542b\u307e\u308c\u308b\u3060\u308d\u3046\u3002\u3053\u306e\u6570\u5024\u306f1\u5e74\u3054\u3068\u306b\u4e0a\u6607\u3059\u308b\u3002\u3057\u305f\u304c\u3063\u3066\uff0c40\u6b73\u306e\u7537\u6027\u306e\u7cbe\u5b50\u306f\u5f7c\u306e\u5b50\u4f9b\u306b60\u4f8b\u307b\u3069\u306e\u65b0\u898f\u7a81\u7136\u5909\u7570\u3092\u4f1d\u3048\u308b\u3053\u3068\u306b\u306a\u308b\u3002\uff08\u3053\u308c\u3089\u306e\u7d0420\u4f8b\u306f\u7ffb\u8a33\u9818\u57df\u3067\u8d77\u3053\u3063\u3066\u3044\u308b\u3002\uff09<br>\u25a1\u3000\u6bcd\u89aa\u306e\u5e74\u9f62\u306f\u3069\u3046\u3067\u3042\u308d\u3046\u3068\u3082\uff0c\u5b50\u4f9b\u306b\u7d0415\u4f8b\u306e\u7a81\u7136\u5909\u7570\u3092\u4f1d\u3048\u3066\u3044\u308b\u3002<br>( \u305f\u3060\u3057\uff0c<a href=\"\/text\/?page_id=673#sex\">\u7570\u6570\u6027<\/a> aneuploidy \u306e\u3088\u3046\u306a<b>\u67d3\u8272\u4f53\u7570\u5e38<\/b>\u306f\u7cbe\u5b50\u3067\u3088\u308a\u5375\u5b50\u3067\u8d77\u3053\u308a\u3084\u3059\u3044\u3002\u305d\u3057\u3066\uff0c\u3053\u308c\u3089\u306e\u983b\u5ea6\u306f\u6bcd\u306e\u5e74\u9f62\u3067\u5897\u52a0\u3059\u308b\u3002 )<\/li><li>\u3053\u308c\u3089\u306e\u30c7\u30fc\u30bf\u304b\u3089\uff0c\u90e8\u5206\u7684\u3060\u304c\u4f55\u6545\uff0c\u52a0\u9f62\u3057\u305f\u7236\u89aa\u306e\u5b50\u4f9b\u306f\u82e5\u3044\u7236\u89aa\u306e\u5b50\u4f9b\u306b\u6bd4\u3079\u308b\u3068\u907a\u4f1d\u75c5\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304b\u304c\u8aac\u660e\u3055\u308c\u308b\u3002<\/li><\/ul>\n\n\n\n<p><a name=\"somatic\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4f53\u7d30\u80de vs. \u751f\u6b96\u7d30\u80de\u306e\u7a81\u7136\u5909\u7570<\/h2>\n\n\n\n<p>\u540c\u3058\u7a81\u7136\u5909\u7570\u3067\u3082\uff0c\u751f\u6b96\u7d30\u80de\u304b\u4f53\u7d30\u80de\u3067\u8d77\u3053\u308b\u304b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5f71\u97ff\u304c\u7570\u306a\u308b\u3002\u305f\u3068\u3048\u3070\uff0c\u9aa8\u9ac4\u3084\u809d\u81d3\u306a\u3069\u306e <b>\u4f53\u7d30\u80de<\/b> somatic cell \u3067\u8d77\u3053\u308b\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u7d30\u80de\u304c\u640d\u50b7\u3092\u53d7\u3051\u308b\u3002<\/li><li>\u7d30\u80de\u304c\u30ac\u30f3\u5316\u3059\u308b\u3002<\/li><li>\u7d30\u80de\u304c\u6b7b\u6ec5\u3059\u308b\u3002<\/li><\/ul>\n\n\n\n<p>\u305d\u306e\u5f71\u97ff\u304c\u3069\u3046\u3067\u3042\u308c\uff0c <b>\u4f53\u7d30\u80de\u7a81\u7136\u5909\u7570<\/b> \u306b\u3088\u3063\u3066\u6700\u7d42\u7684\u306b\u305d\u306e\u7d30\u80de\uff0c\u3042\u308b\u3044\u306f\u5bbf\u4e3b\u304c\u6b7b\u4ea1\u3057\u305f\u6642\u306b\u6d88\u6ec5\u3059\u308b\u904b\u547d\u306b\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u5bfe\u3057\u3066\uff0c<b>\u751f\u6b96\u7d30\u80de\u7a81\u7136\u5909\u7570<\/b> \u3067\u306f\u7a81\u7136\u5909\u7570\u3057\u305f\u751f\u6b96\u7d30\u80de\u304b\u3089\u751f\u3058\u305f\u63a5\u5408\u5b50\u306e\u5f8c\u7d99\u7d30\u80de\u306e\u3059\u3079\u3066\u306b\u5f71\u97ff\u304c\u53ca\u3076\u3053\u3068\u306b\u306a\u308b\u3002 \u5e78\u3044\u6210\u4eba\u306b\u9054\u3057\u305f\u3068\u3057\u3066\u3082\uff0c\u305d\u306e\u7d30\u80de\u306e\u3059\u3079\u3066\u304c\u7a81\u7136\u5909\u7570\u3092\u542b\u3093\u3067\u3044\u308b\u3053\u3068\u306b\u306a\u308b\u3002\u914d\u5076\u5b50\u3082\u540c\u69d8\u3067\u3042\u308b\u3002\u3057\u305f\u304c\u3063\u3066\uff0c\u89aa\u3068\u306a\u3063\u3066\u5b50\u4f9b\u3092\u5f97\u305f\u6642\u306b\u306f\uff0c\u3053\u308c\u3089\u306e\u7a81\u7136\u5909\u7570\u304c\u6b21\u306e\u4e16\u4ee3\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u306b\u306a\u308b\u3002<br><a name=\"example_1\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u4f8b 1 \uff1a<\/h3>\n\n\n\n<p>\u4eca\u65e5\uff0c\u5357\u30a2\u30d5\u30ea\u30ab\u306b\u4f4f\u3080 8,000 \u4eba\u4ee5\u4e0a\u304c <b>\u30dd\u30eb\u30d5\u30a3\u30ea\u30f3\u75c7<\/b> porphyria \u3068\u547c\u3070\u308c\u308b\u4ee3\u8b1d\u75c5\u306e\u907a\u4f1d\u5b50\u3092\u3082\u3064\u3002 \u305d\u308c\u305e\u308c\u306e\u4eba\u306f 1 \u3064\u306e\u30ab\u30c3\u30d7\u30eb\uff0c Ariaantje Jacobs \u3068 Gerrit Jansz \u306b\u307e\u3067\u623b\u308b\u7956\u5148\u3092\u901a\u3057\u3066\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u3002\u3053\u306e\u30ab\u30c3\u30d7\u30eb\u306f 17 \u4e16\u7d00\u5f8c\u534a\u306b\u30aa\u30e9\u30f3\u30c0\u304b\u3089\u5357\u30a2\u30d5\u30ea\u30ab\u3078\u79fb\u4f4f\u3057\u305f\u3002 2 \u4eba\u306e\u3069\u3061\u3089\u304b\u304c\u751f\u6b96\u7cfb\u5217\u3092\u4ecb\u3057\u3066\u5f7c\u3089\u306e\u5b50\u5b6b\u306b\u3053\u306e\u907a\u4f1d\u5b50\u3092\u5e83\u3081\u3066\u3057\u307e\u3063\u305f\u306e\u3067\u3042\u308b\u3002\u5e78\u3044\uff0c\u30d0\u30eb\u30d3\u30c4\u30fc\u30eb\u9178\u7cfb\u306e\u50ac\u7720\u85ac\u3092\u6295\u4e0e\u3055\u308c\u306a\u3051\u308c\u3070 ( \u3053\u306e\u85ac\u5264\u306f\u6fc0\u3057\u3044\u53cd\u5fdc\u3092\u5f15\u304d\u8d77\u3053\u3059 ) \u75c7\u72b6\u306f\u305f\u3044\u3066\u3044\u8efd\u5fae\u3067\u3042\u308b\u3002<br><a name=\"Example_2:\"><\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u4f8b 2 \uff1a<\/h3>\n\n\n\n<p>\u30d2\u30c8\u306b\u8d77\u3053\u308b\u7db2\u819c\u82bd\u7d30\u80de\u816b Retinoblastoma\u306f\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u6563\u767a\u6027 <b>sporadic<\/b>, \u3053\u308c\u306f 2 \u3064\u306e RB \u907a\u4f1d\u5b50\u306e\u305d\u308c\u305e\u308c\u306e <b>\u4f53\u7d30\u80de\u7a81\u7136\u5909\u7570<\/b> somatic mutation \u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3002<\/li><li>\u5bb6\u65cf\u6027 <b>familial<\/b> ( \u907a\u4f1d\u3059\u308b\u3068\u3044\u3046\u610f\u5473 )\uff0c\u3053\u308c\u306f\u4e21\u89aa\u304b\u3089\u751f\u6b96\u7cfb\u5217\u3092\u4ecb\u3057\u3066\u7a81\u7136\u5909\u7570 RB \u907a\u4f1d\u5b50\u3092\u3059\u3067\u306b\u3082\u3064\u4f53\u7d30\u80de\u7d30\u80de\u306b\u304a\u3051\u308b\u5909\u7570\u306e\u305f\u3081\u306b\u8d77\u3053\u308b\u3002<\/li><\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><a href=\"\/text\/?page_id=1072\">\u4f53\u7d30\u80de\u3068\u751f\u6b96\u7d30\u80de\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u95a2\u9023\u60c5\u5831\u306f\u3053\u3061\u3089\uff1a<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><a href=\"\/text\/?page_id=1243\">\u5316\u5b66\u7684\u7a81\u7136\u5909\u7570\u8a98\u767a\u8981\u56e0\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><tr><td><a href=\"\/text\/?page_id=1195\">\u30de\u30a6\u30b9\u306b\u304a\u3051\u308b\u7a81\u7136\u5909\u7570\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><tr><td><a href=\"\/text\/?page_id=1222\">\u653e\u5c04\u7dda\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3053\u3061\u3089<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><a href=\"\/text\/?page_id=1095\">\u6700\u521d\u306b\u623b\u308b<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"\"><tbody><tr><td><b>\u30e1\u30cb\u30e5\u30fc\u306e\u30da\u30fc\u30b8\u3078\u623b\u308b<\/b><\/td><\/tr><tr><td>\n<ul>\n<li><a href=\"\/text\/#Reproduction\">\u5bb6\u755c\u7e41\u6b96\u5b66<\/a><\/li>\n<li><a href=\"\/text\/#Breeding_and_Genetics\">\u5bb6\u755c\u80b2\u7a2e\u5b66<\/a><\/li>\n<li><a href=\"\/text\/#References\">\u53c2\u8003\u6587\u732e<\/a><\/li>\n<\/ul>\n<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>March 18, 2020<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u7a81\u7136\u5909\u7570 30 January 2020 \u7248\u3092\u7ffb\u8a33\u4e00\u90e8\u6539\u5909 \u3053\u306e\u30da\u30fc\u30b8\u306e\u5185\u5bb9 \u5358\u4e00\u5869\u57fa\u7f6e\u63db \u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570 \u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570 \u30b5\u30a4\u30ec\u30f3\u30c8\u5909\u7570 \u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570 \u633f\u5165\u3068\u6b20\u5931 \u8106\u5f31 X \u67d3\u8272\u4f53\u75c7 \u30dd\u30ea\u30b0\u30eb\u30bf\u30df\u30f3\u75c5 \u7b4b\u30b8\u30b9\u30c8\u30ed [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":183,"menu_order":0,"comment_status":"open","ping_status":"open","template":"","meta":{"footnotes":""},"class_list":["post-1095","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/pages\/1095","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1095"}],"version-history":[{"count":98,"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/pages\/1095\/revisions"}],"predecessor-version":[{"id":4111,"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/pages\/1095\/revisions\/4111"}],"up":[{"embeddable":true,"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=\/wp\/v2\/pages\/183"}],"wp:attachment":[{"href":"https:\/\/marimo3take.wafflecell.com\/text\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1095"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}