{"id":4,"date":"2024-04-03T23:15:02","date_gmt":"2024-04-03T20:15:02","guid":{"rendered":"https:\/\/sisu.ut.ee\/geneetika1\/1-genoomika-moiste-ja-arengusuunad\/"},"modified":"2024-04-10T10:41:17","modified_gmt":"2024-04-10T07:41:17","slug":"1-genoomika-moiste-ja-arengusuunad","status":"publish","type":"page","link":"https:\/\/sisu.ut.ee\/geneetika1\/1-genoomika-moiste-ja-arengusuunad\/","title":{"rendered":"1. Genoomika m\u00f5iste ja arengusuunad"},"content":{"rendered":"<p><strong>Genoomika<\/strong>\u00a0on geneetika haru, mis kasutab rekombinantse DNA ja DNA sekveneerimise metoodikaid koos bioinformaatikaga, et teha kindlaks nukleotiidne j\u00e4rjestus, assambleerida ja anal\u00fc\u00fcsida genoomide funktsiooni ja struktuuri.<\/p>\n<p><strong>Genoom <\/strong>organismi rakus olev t\u00e4ielik DNA j\u00e4rjestus.<\/p>\n<p>Eesm\u00e4rgiks genoomide uurimisel on:<\/p>\n<ul>\n<li><span style=\"line-height: 1.6em;\">m\u00e4\u00e4rata organismi t\u00e4ielik DNA j\u00e4rjestus;<\/span><\/li>\n<li><em style=\"line-height: 1.6em;\">Fine \u2013 scale<\/em><span style=\"line-height: 1.6em;\"> geneetiline kaardistamine;<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">intragenoomsete lookuste ja alleelide interaktsioonide uurimine n\u00e4htuste selgitamiseks : heteroos, epistaas, pleiotroopia.<\/span><\/li>\n<\/ul>\n<p>\u00dcksikute geenide rolli uurimine on molekulaarbioloogia v\u00f5i geneetika teema \u2013 see pole genoomika valdkond.<\/p>\n<h6>Kuidas defineerida m\u00f5iste \u201egenot\u00fc\u00fcp\u201d?<\/h6>\n<p><span style=\"line-height: 1.6em;\">Nobeli preemia nukleiinhapete sekveneerimise reaktsiooni eest on antud teadlastele F. Sanger ja W. Gilbert aastal 1980.<\/span><\/p>\n<p><strong style=\"line-height: 1.6em;\">Frederick \u00a0Sanger<\/strong><span style=\"line-height: 1.6em;\"> on inglise biokeemik, kahekordne Nobeli preemia laureaat keemia alal (neljas inimene, kellel on kaks Nobelit). 1958 tunnustus valkude, peamiselt insuliini uuringute eest. 1980 panuse eest nukleiinhapete j\u00e4rjestuse m\u00e4\u00e4ramisse.<\/span><\/p>\n<p><strong style=\"line-height: 1.6em;\">Walter Gilbert<\/strong><strong style=\"line-height: 1.6em;\">\u00a0 <\/strong>on\u00a0<span style=\"line-height: 1.6em;\">ameerika f\u00fc\u00fcsik, biokeemik ja molekulaarbioloog. Arendas koos A. Maxamiga v\u00e4lja uue, keemilise DNA sekveneerimise metoodika. R\u00e4\u00e4kis esimesena eukar\u00fcootse geeni struktuurielementidena eksonitest ja intronitest (1978) ja <\/span><em style=\"line-height: 1.6em;\">RNA world<\/em><span style=\"line-height: 1.6em;\"> h\u00fcpoteesist.<\/span><\/p>\n<table class=\"table table-hover\" border=\"0\" align=\"center\">\n<tbody>\n<tr>\n<td><img loading=\"lazy\" decoding=\"async\" width=\"186\" height=\"269\" class=\"alignnone wp-image-15\" style=\"max-width: 100%; font-size: 13px; line-height: 20.796875px; float: left;\" title=\"genoomika1-1.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-1.png\" alt=\"genoomika1-1.png\"><img loading=\"lazy\" decoding=\"async\" width=\"208\" height=\"313\" class=\"alignnone wp-image-16\" style=\"float: left;\" title=\"genoomika1-2.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-2.png\" alt=\"genoomika1-2.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-2.png 208w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-2-199x300.png 199w\" sizes=\"auto, (max-width: 208px) 100vw, 208px\"><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<ul>\n<li><span style=\"line-height: 1.6em;\">1975 \u2013 ilmus Sangeri ja Coulsoni publikatsioon sekveneerimismetoodika kohta, mis kasutas radioaktiivselt m\u00e4rgistatud nukleotiide ja DNA pol\u00fcmeraasi. Meetod oli t\u00f6\u00f6mahukas ja v\u00f5imaldas sekveneerida korraga ainult \u00fcle 80 nukleotiidi.<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">1977 \u2013\u00a0esitlesid F. Sanger ja kaast\u00f6\u00f6tajad metoodikat DNA sekveneerimiseks, mis kasutas ahela termineerimise reaktsiooni ja mida teatakse Sangeri meetodina. Sama metoodikat kasutati kogu inimese genoomi sekveneerimiseks.<\/span><\/li>\n<li>1977 \u2013\u00a0sekveneeriti esimene t\u00e4ispikk DNA genoom &gt;5000 np \u00fcheahelalisel bakteriofaagil \u03c6X174.<\/li>\n<\/ul>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"196\" class=\"alignnone wp-image-17 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-3.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-3.png\" alt=\"genoomika1-3.png\"><\/p>\n<p style=\"text-align: center;\"><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.virology.wisc.edu\/virusworld\/viruslist.php?virus=174\" target=\"_blank\" rel=\"noopener\">http:\/\/www.virology.wisc.edu\/virusworld\/viruslist.php?virus=174<\/a><\/p>\n<h6><span style=\"line-height: 1.6em;\">Kaks Nobeli preemiat on saanud kokku 4 inimest. Kes on teised teadlased peale F. Sangeri, keda on hinnatud kahe Nobeliga?\u00a0<\/span><\/h6>\n<p><span style=\"line-height: 1.6em;\">Praegu on sekveneeritud k\u00f5igi peamiste mudelorganismide ja probleemsete patogeenide genoomid (2011 seisuga):<\/span><\/p>\n<ul>\n<li>\u00a0&gt; 2700 viirusel<\/li>\n<li><span style=\"line-height: 1.6em;\">&gt; 1115 arhel ja bakteril<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">&gt; 36 eukar\u00fcootsel organismil<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">&gt; <\/span>pooled seened seeneriigist<\/li>\n<\/ul>\n<p>Inimese genoomi sekveneerimine Inimese Genoomi Projekti (HGP) raames l\u00f5petati 2003,\u00a0 tunnistati t\u00e4ielikult l\u00f5petatuks alles 2007. aastal, mil k\u00f5ik kromosoomid said sekveneeritud t\u00e4psusega \u00a0&lt;1 viga 20 000 aluspaari kohta.<\/p>\n<p>2012 l\u00f5ppes 1000 Genoomi Projekt, mille k\u00e4igus sekveneeriti 1092 inimese genoomi.<\/p>\n<p><strong style=\"line-height: 1.6em;\">Genoomi anal\u00fc\u00fcs koosneb kolmest etapist:<\/strong><\/p>\n<ol>\n<li><span style=\"line-height: 1.6em;\">DNA sekveneerimine<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">Kromosoomij\u00e4rjestuse assembleerimine<\/span><\/li>\n<li><span style=\"line-height: 1.6em;\">J\u00e4rjestuse \u00fclevaatamine ja anal\u00fc\u00fcs<\/span><\/li>\n<\/ol>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"561\" class=\"alignnone wp-image-18 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-4.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-4.png\" alt=\"genoomika1-4.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-4.png 900w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-4-300x187.png 300w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-4-768x479.png 768w\" sizes=\"auto, (max-width: 900px) 100vw, 900px\"><\/p>\n<p style=\"text-align: center;\"><a href=\"http:\/\/genome.crg.es\/courses\/Madrid04\/exercises\/ensembl\/\" target=\"_blank\" rel=\"noopener\">http:\/\/genome.crg.es\/courses\/Madrid04\/exercises\/ensembl\/<\/a><\/p>\n<p><span style=\"line-height: 1.6em;\">Genoomide sekveneerimise metoodikad v\u00f5ib jaotada:<\/span><\/p>\n<p><strong><em>a)\u00a0<\/em><\/strong><strong><em>Shotgun<\/em><\/strong> \u2013 metoodika (\u02c3 1000 np pikkuste j\u00e4rjestuste sekveneerimiseks). DNA j\u00e4rjestused l\u00f5hutakse v\u00e4iksemateks (100 \u2013 1000 np) l\u00f5ikudeks, sekveneeritakse ja saadakse lugemid ehk\u00a0<em>read<\/em>\u2018 id.<\/p>\n<p style=\"text-align: center;\">\u00a0<img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"331\" class=\"alignnone wp-image-19\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-5.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-5.png\" alt=\"genoomika1-5.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-5.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-5-300x166.png 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/p>\n<p style=\"text-align: center;\"><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.biomedcentral.com\/1471-2164\/11\/438\/figure\/F1?highres=y\" target=\"_blank\" rel=\"noopener\">http:\/\/www.biomedcentral.com\/1471-2164\/11\/438\/figure\/F1?highres=y<br>\n<span style=\"color: #313131; line-height: 1.6em;\">(T\u00e4psema selgituse saamiseks metoodikast vt. infot internetiaadressilt <\/span><\/a><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.biomedcentral.com\/content\/pdf\/1471-2164-11-438.pdf\" target=\"_blank\" rel=\"noopener\">http:\/\/www.biomedcentral.com\/content\/pdf\/1471-2164-11-438.pdf<\/a><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.biomedcentral.com\/1471-2164\/11\/438\/figure\/F1?highres=y\" target=\"_blank\" rel=\"noopener\"><span style=\"color: #313131; line-height: 1.6em;\">).<\/span><\/a><\/p>\n<p style=\"text-align: left;\"><span style=\"color: #313131; line-height: 1.6em;\">Allj\u00e4rgnevalt l\u00fchike ja \u00fclevaatlik skeem shotgun \u2013 metoodika kohta:<\/span><\/p>\n<p style=\"text-align: center;\"><img loading=\"lazy\" decoding=\"async\" width=\"400\" height=\"512\" class=\"alignnone wp-image-20\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-6.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-6.png\" alt=\"genoomika1-6.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-6.png 400w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-6-234x300.png 234w\" sizes=\"auto, (max-width: 400px) 100vw, 400px\"><\/p>\n<p style=\"text-align: center;\"><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/\" target=\"_blank\" rel=\"noopener\">http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/<\/a><\/p>\n<p><em><strong><span style=\"line-height: 1.6em;\">b<\/span><\/strong><\/em><strong style=\"line-height: 1.6em;\"><em><strong>)<\/strong> High \u2013 throughput<\/em><\/strong><span style=\"line-height: 1.6em;\"> (ka <\/span><strong style=\"line-height: 1.6em;\"><em>next \u2013 generation<\/em><\/strong><span style=\"line-height: 1.6em;\">) metoodikad \u2013 suuremahulised ja automatiseeritud genoomi anal\u00fc\u00fcsid (96 DNA proovi sekveneeritakse \u00fche runiga, <\/span>\u00f6\u00f6p\u00e4evas <span style=\"line-height: 1.6em;\">\u02c3 48 runi). T\u00f6\u00f6tati v\u00e4lja vajadusest odavama ja v\u00f5imsama sekveneerimise j\u00e4rgi, mis v\u00f5imaldaks sekveneerida tuhandeid, isegi miljoneid j\u00e4rjestusi \u00fcheaegselt.<\/span><\/p>\n<p><span style=\"line-height: 1.6em;\"><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"422\" class=\"alignnone wp-image-21 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-7.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-7.png\" alt=\"genoomika1-7.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-7.png 600w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-7-300x211.png 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\"><\/span><\/p>\n<p style=\"text-align: center;\">Skeem uue generatsiooni sekveneerimise metoodikast. \u00a0<a href=\"http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/\">http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/<\/a><\/p>\n<p style=\"text-align: left;\"><span style=\"line-height: 1.6em;\">T\u00e4psema info saamiseks k\u00fclasta j\u00e4rgmisi internetiaadresse:<\/span><\/p>\n<ul>\n<li><span style=\"line-height: 1.6em;\">454 Method:\u00a0<\/span><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.wellcome.ac.uk\/stellent\/groups\/corporatesite\/@msh_publishing_group\/documents\/video\/WTX056030.swf\">http:\/\/www.wellcome.ac.uk\/stellent\/groups\/corporatesite\/@msh_publishing_group\/documents\/video\/WTX056030.swf<\/a><\/li>\n<li><span style=\"line-height: 1.6em;\">Illumina Technology:\u00a0<\/span><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.wellcome.ac.uk\/stellent\/groups\/corporatesite\/@msh_publishing_group\/documents\/video\/WTX056031.swf\">http:\/\/www.wellcome.ac.uk\/stellent\/groups\/corporatesite\/@msh_publishing_group\/documents\/video\/WTX056031.swf<\/a><\/li>\n<li><span style=\"line-height: 1.6em;\">Lisaks vaata veel:\u00a0<\/span><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/#sthash.7LJRGC9U.dpuf\" target=\"_blank\" rel=\"noopener\"><span style=\"line-height: 1.6em;\">http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/#sthash.7LJRGC9U.dpuf<\/span><\/a><\/li>\n<\/ul>\n<p><span style=\"line-height: 1.6em;\">Genoomika geneetika osana edeneb t\u00e4nap\u00e4eval kiirelt ja on rakendatav erinevate teadusharude arengus. Genoomsete j\u00e4rjestuste anal\u00fc\u00fcs v\u00f5imaldab hankida teadmisi\u00a0 valdkondade toimimise ja koostoimimise kohta, nagu on n\u00e4idatud alloleval skeemil:<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" width=\"606\" height=\"438\" class=\"alignnone wp-image-22 aligncenter\" style=\"margin-left: auto; margin-right: auto;\" title=\"genoomika1-8.png\" src=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-8.png\" alt=\"genoomika1-8.png\" srcset=\"https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-8.png 606w, https:\/\/sisu.ut.ee\/wp-content\/uploads\/sites\/55\/genoomika1-8-300x217.png 300w\" sizes=\"auto, (max-width: 606px) 100vw, 606px\"><\/p>\n<p style=\"text-align: center;\">Skeem, millel on n\u00e4idatud, et genoomika hangib teadmisi genoomsetest, funktsionaalsetest ja anal\u00fc\u00fctilistest uurimustest ning genoomiuuringute tulemuseks on uued teadmised kodeerivate ja regulatoorsete alade funktsioonidest, muutunud arusaamad f\u00fcsioloogilistest protsessidest ja uued h\u00fcpoteesid, mis vajavad testimist.\u00a0<a href=\"http:\/\/www.eh3.uc.edu\/GenomicsPortals\/\" target=\"_blank\" rel=\"noopener\">http:\/\/www.eh3.uc.edu\/GenomicsPortals\/<\/a><\/p>\n<p>Uurimisvaldkondadest, kus kasutatakse genoomika meetodeid, on tuntumad funktsionaalne-, struktuurne-, farmako-, nutri-, meditsiiniline-, meta-, epigenoomika ja v\u00f5rdlev genoomika. Neist valdkondadest tuleb juttu j\u00e4rgnevates alateemades.<\/p>\n<p><span style=\"line-height: 1.6em;\">Kirjandus:<\/span><\/p>\n<ul>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.eh3.uc.edu\/GenomicsPortals\/\">http:\/\/www.eh3.uc.edu\/GenomicsPortals\/<\/a><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/\">http:\/\/www.oxbridgebiotech.com\/review\/research-and-policy\/whats-so-special-about-next-generation-sequencing\/<\/a><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/en.wikipedia.org\/wiki\/Genomics\">http:\/\/en.wikipedia.org\/wiki\/Genomics<\/a><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.wellcome.ac.uk\/Education-resources\/Education-and-learning\/Resources\/Genetics\/index.htm\" target=\"_blank\" rel=\"noopener\">http:\/\/www.wellcome.ac.uk\/Education-resources\/Education-and-learning\/Resources\/Genetics\/index.htm<\/a><span style=\"line-height: 1.6em;\">\u00a0<\/span><\/li>\n<li><a style=\"line-height: 1.6em;\" href=\"http:\/\/www.wellcome.ac.uk\/Education-resources\/Education-and-learning\/Big-Picture\/All-issues\/Genes-Genomes-and-Health\/index.htm\" target=\"_blank\" rel=\"noopener\"><span style=\"line-height: 1.6em;\">http:\/\/www.wellcome.ac.uk\/Education-resources\/Education-and-learning\/Big-Picture\/All-issues\/Genes-Genomes-and-Health\/index.htm<\/span><\/a><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Genoomika\u00a0on geneetika haru, mis kasutab rekombinantse DNA ja DNA sekveneerimise metoodikaid koos bioinformaatikaga, et teha kindlaks nukleotiidne j\u00e4rjestus, assambleerida ja anal\u00fc\u00fcsida genoomide funktsiooni ja struktuuri. Genoom organismi rakus olev t\u00e4ielik DNA j\u00e4rjestus. Eesm\u00e4rgiks genoomide uurimisel on: m\u00e4\u00e4rata organismi t\u00e4ielik DNA &#8230;<\/p>\n","protected":false},"author":280,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-4","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/pages\/4","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/users\/280"}],"replies":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/comments?post=4"}],"version-history":[{"count":3,"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/pages\/4\/revisions"}],"predecessor-version":[{"id":84,"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/pages\/4\/revisions\/84"}],"wp:attachment":[{"href":"https:\/\/sisu.ut.ee\/geneetika1\/wp-json\/wp\/v2\/media?parent=4"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}