{"id":7826,"date":"2024-02-15T18:44:49","date_gmt":"2024-02-15T17:44:49","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7826"},"modified":"2024-02-15T18:45:43","modified_gmt":"2024-02-15T17:45:43","slug":"karyomapping","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/de\/vysetreni-reprodukcni-genetiky\/karyomapping\/","title":{"rendered":"Karyomapping"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"7826\" class=\"elementor elementor-7826\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7dcd409 e-flex e-con-boxed e-con e-parent\" data-id=\"7dcd409\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-ca2497d elementor-widget elementor-widget-spacer\" data-id=\"ca2497d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-efdade8 e-flex e-con-boxed e-con e-parent\" data-id=\"efdade8\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-0645333 elementor-widget elementor-widget-text-editor\" data-id=\"0645333\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Karyomapping je robustn\u00ed modern\u00ed molekul\u00e1rn\u011b-genetick\u00e9 \u010dipov\u00e9 \nvy\u0161et\u0159en\u00ed variant v&nbsp;sekvenci DNA.&nbsp;Na&nbsp;unicit\u011b souboru t\u011bchto variant \nu&nbsp;ka\u017ed\u00e9ho jedince je zalo\u017eena tzv. \u201enep\u0159\u00edm\u00e1\u201c genetick\u00e1 diagnostika, \nkter\u00e1 je z\u00e1kladem pro&nbsp;vy\u0161et\u0159en\u00ed PGT-M.&nbsp;Jedn\u00e1 se&nbsp;o&nbsp;vy\u0161et\u0159en\u00ed cel\u00e9ho \ngenomu, krom\u011b vy\u0161et\u0159en\u00ed jak\u00e9hokoli monogenn\u00edho onemocn\u011bn\u00ed tedy z\u00e1rove\u0148 \numo\u017e\u0148uje orienta\u010dn\u00ed screeningov\u00e9 vy\u0161et\u0159en\u00ed kvantitativn\u00edch zm\u011bn v\u0161ech \nchromosom\u016f (PGT-A).<\/p>\n\n<p><strong>Princip metody Karyomapping:<\/strong> Metoda je zalo\u017eena \nna&nbsp;porovn\u00e1n\u00ed DNA&nbsp;embryon\u00e1ln\u00edch vzork\u016f a&nbsp;DNA&nbsp;p\u00e1ru a&nbsp;referen\u010dn\u00edho \u010dlena \nrodiny, odebran\u00fdch v&nbsp;r\u00e1mci SET-UP.&nbsp;Z&nbsp;odebran\u00fdch vzork\u016f je extrahov\u00e1na \nDNA, u&nbsp;vzork\u016f embryon\u00e1ln\u00edch je nav\u00edc provedena speci\u00e1ln\u00ed celogenomov\u00e1 \namplifikace (whole genome amplification, WGA&nbsp;typu MDA). Samotn\u00e9 \nvy\u0161et\u0159en\u00ed je provedeno na&nbsp;speci\u00e1ln\u00edm druhu mikro\u010dipu (SNParray), kter\u00fd \ndok\u00e1\u017ee z\u00e1rove\u0148 detekovat velk\u00fd po\u010det vybran\u00fdch jednonukleotidov\u00fdch \npolymorfism\u016f (tzv. SNP \u2013 single nucleotide polymorphism) cel\u00e9ho genomu. \nKonkr\u00e9tn\u00ed kombinace SNP v&nbsp;oblasti genu zp\u016fsobuj\u00edc\u00edho dan\u00e9 monogenn\u00ed \nonemocn\u011bn\u00ed odli\u0161uje jednotliv\u00e9 jedince (rodinn\u00e9 p\u0159\u00edslu\u0161n\u00edky, embrya) \na&nbsp;ob\u011b jejich alely tohoto genu (haplotypy). Porovn\u00e1n\u00edm zji\u0161t\u011bn\u00fdch \nhaplotyp\u016f s&nbsp;informacemi z&nbsp;rodokmene vy\u0161et\u0159ovan\u00e9 rodiny jsou pak ur\u010deny \nhaplotypy spojen\u00e9 s&nbsp;p\u0159\u00edtomnost\u00ed dan\u00e9 mutace (tj. nesouc\u00ed riziko \npro&nbsp;onemocn\u011bn\u00ed). V&nbsp;n\u011bkter\u00fdch p\u0159\u00edpadech, kter\u00e9 v\u0161ak nast\u00e1vaj\u00ed velmi \nvz\u00e1cn\u011b, je nutno pou\u017e\u00edt Karyomapping v&nbsp;kombinaci s&nbsp;p\u0159\u00edmou detekc\u00ed \nmutace. Metoda je univerz\u00e1ln\u00ed a&nbsp;umo\u017e\u0148uje vy\u0161et\u0159it jak\u00e9koli zn\u00e1m\u00e9 \nmonogenn\u00ed onemocn\u011bn\u00ed. Dal\u0161\u00ed v\u00fdhodou je podstatn\u00e9 sn\u00ed\u017een\u00ed n\u00e1ro\u010dnosti \na&nbsp;zkr\u00e1cen\u00ed p\u0159\u00edpravn\u00e9 f\u00e1ze vy\u0161et\u0159en\u00ed (SET-UP).<\/p>\n\n<p><strong>Limitace metody Karyomapping:<\/strong> PGD pro&nbsp;famili\u00e1rn\u00ed \nmonogenn\u00ed onemocn\u011bn\u00ed (PGT-M) nem\u016f\u017ee vylou\u010dit jak\u00e9koliv dal\u0161\u00ed onemocn\u011bn\u00ed \n\u010di&nbsp;v\u00fdvojov\u00e9 vady plodu, kter\u00e9 nejsou zp\u016fsobeny mutac\u00ed v&nbsp;dan\u00e9m genu. \nKaryomappingem nelze detekovat mutace vznikl\u00e9 <em>de novo<\/em> v&nbsp;embryon\u00e1ln\u00ed DNA.<\/p>\n\n<p>Karyomapping, jako metoda prim\u00e1rn\u011b ur\u010den\u00e1 k&nbsp;vylou\u010den\u00ed monogenn\u00edho \nonemocn\u011bn\u00ed, nezaru\u010duje detekci n\u00e1hodn\u00fdch aneuploidi\u00ed na&nbsp;\u00farovni \nsrovnateln\u00e9 s&nbsp;aCGH nebo&nbsp;NGS.&nbsp;Screening aneuploidi\u00ed Karyomappingem je \npouze dopl\u0148kov\u00e9 vy\u0161et\u0159en\u00ed, kter\u00fdm lze zv\u00fd\u0161it \u00fasp\u011b\u0161nost l\u00e9\u010dby v\u00fdb\u011brem \nnejperspektivn\u011bj\u0161\u00edho embrya, a&nbsp;je nab\u00edzeno bez&nbsp;p\u0159\u00edplatku.<\/p>\n\n<h3>Sch\u00e9ma vy\u0161et\u0159en\u00ed Karyomappingem &#8211; PGT-M<\/h3>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-79e3b5d e-flex e-con-boxed e-con e-parent\" data-id=\"79e3b5d\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-0bce6d9 elementor-widget elementor-widget-image\" data-id=\"0bce6d9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"515\" height=\"310\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/kryomapping_schema.jpg\" class=\"attachment-large size-large wp-image-7829\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/kryomapping_schema.jpg 515w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/kryomapping_schema-300x181.jpg 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/kryomapping_schema-18x12.jpg 18w\" sizes=\"(max-width: 515px) 100vw, 515px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b11330a elementor-widget elementor-widget-image\" data-id=\"b11330a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"447\" height=\"277\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/princip_vysetreni_kryo.png\" class=\"attachment-large size-large wp-image-7830\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/princip_vysetreni_kryo.png 447w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/princip_vysetreni_kryo-300x186.png 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/princip_vysetreni_kryo-18x12.png 18w\" sizes=\"(max-width: 447px) 100vw, 447px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-581c4ff e-flex e-con-boxed e-con e-parent\" data-id=\"581c4ff\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-1128347 elementor-widget elementor-widget-spacer\" data-id=\"1128347\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Karyomapping je robustn\u00ed modern\u00ed molekul\u00e1rn\u011b-genetick\u00e9 \u010dipov\u00e9 vy\u0161et\u0159en\u00ed variant v&nbsp;sekvenci DNA.&nbsp;Na&nbsp;unicit\u011b souboru t\u011bchto variant u&nbsp;ka\u017ed\u00e9ho jedince je zalo\u017eena tzv. \u201enep\u0159\u00edm\u00e1\u201c genetick\u00e1 diagnostika, kter\u00e1 je z\u00e1kladem pro&nbsp;vy\u0161et\u0159en\u00ed PGT-M.&nbsp;Jedn\u00e1 se&nbsp;o&nbsp;vy\u0161et\u0159en\u00ed cel\u00e9ho genomu, krom\u011b vy\u0161et\u0159en\u00ed jak\u00e9hokoli monogenn\u00edho onemocn\u011bn\u00ed tedy z\u00e1rove\u0148 umo\u017e\u0148uje orienta\u010dn\u00ed screeningov\u00e9 vy\u0161et\u0159en\u00ed kvantitativn\u00edch zm\u011bn v\u0161ech chromosom\u016f (PGT-A). Princip metody Karyomapping: Metoda je zalo\u017eena na&nbsp;porovn\u00e1n\u00ed DNA&nbsp;embryon\u00e1ln\u00edch vzork\u016f a&nbsp;DNA&nbsp;p\u00e1ru [&hellip;]<\/p>","protected":false},"author":9,"featured_media":0,"parent":7368,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"service-area":[32],"class_list":["post-7826","page","type-page","status-publish","hentry","service-area-vysetreni-reprodukcni-genetiky"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Karyomapping | Genetika Plze\u0148<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genetika-plzen.nullable.group\/de\/vysetreni-reprodukcni-genetiky\/karyomapping\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Karyomapping | Genetika Plze\u0148\" \/>\n<meta property=\"og:description\" content=\"Karyomapping je robustn\u00ed modern\u00ed molekul\u00e1rn\u011b-genetick\u00e9 \u010dipov\u00e9 vy\u0161et\u0159en\u00ed variant v&nbsp;sekvenci DNA.&nbsp;Na&nbsp;unicit\u011b souboru t\u011bchto variant u&nbsp;ka\u017ed\u00e9ho jedince je zalo\u017eena tzv. \u201enep\u0159\u00edm\u00e1\u201c genetick\u00e1 diagnostika, kter\u00e1 je z\u00e1kladem pro&nbsp;vy\u0161et\u0159en\u00ed PGT-M.&nbsp;Jedn\u00e1 se&nbsp;o&nbsp;vy\u0161et\u0159en\u00ed cel\u00e9ho genomu, krom\u011b vy\u0161et\u0159en\u00ed jak\u00e9hokoli monogenn\u00edho onemocn\u011bn\u00ed tedy z\u00e1rove\u0148 umo\u017e\u0148uje orienta\u010dn\u00ed screeningov\u00e9 vy\u0161et\u0159en\u00ed kvantitativn\u00edch zm\u011bn v\u0161ech chromosom\u016f (PGT-A). Princip metody Karyomapping: Metoda je zalo\u017eena na&nbsp;porovn\u00e1n\u00ed DNA&nbsp;embryon\u00e1ln\u00edch vzork\u016f a&nbsp;DNA&nbsp;p\u00e1ru [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genetika-plzen.nullable.group\/de\/vysetreni-reprodukcni-genetiky\/karyomapping\/\" \/>\n<meta property=\"og:site_name\" content=\"Genetika Plze\u0148\" \/>\n<meta property=\"article:modified_time\" content=\"2024-02-15T17:45:43+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/kryomapping_schema.jpg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/\",\"name\":\"Karyomapping | Genetika Plze\u0148\",\"isPartOf\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#website\"},\"datePublished\":\"2024-02-15T17:44:49+00:00\",\"dateModified\":\"2024-02-15T17:45:43+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/#breadcrumb\"},\"inLanguage\":\"de-DE-formal\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/genetika-plzen.nullable.group\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Vy\u0161et\u0159en\u00ed reproduk\u010dn\u00ed genetiky\",\"item\":\"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Karyomapping\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#website\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/\",\"name\":\"Genetika Plze\u0148\",\"description\":\"Genetika Plze\u0148\",\"publisher\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/genetika-plzen.nullable.group\/?s={search_term_string}\"},\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"de-DE-formal\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#organization\",\"name\":\"Genetika Plze\u0148\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"de-DE-formal\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#\/schema\/logo\/image\/\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2022\/07\/logo2.svg\",\"contentUrl\":\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2022\/07\/logo2.svg\",\"width\":286,\"height\":95,\"caption\":\"Genetika Plze\u0148\"},\"image\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#\/schema\/logo\/image\/\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Karyomapping | Genetika Plze\u0148","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/genetika-plzen.nullable.group\/de\/vysetreni-reprodukcni-genetiky\/karyomapping\/","og_locale":"de_DE","og_type":"article","og_title":"Karyomapping | Genetika Plze\u0148","og_description":"Karyomapping je robustn\u00ed modern\u00ed molekul\u00e1rn\u011b-genetick\u00e9 \u010dipov\u00e9 vy\u0161et\u0159en\u00ed variant v&nbsp;sekvenci DNA.&nbsp;Na&nbsp;unicit\u011b souboru t\u011bchto variant u&nbsp;ka\u017ed\u00e9ho jedince je zalo\u017eena tzv. \u201enep\u0159\u00edm\u00e1\u201c genetick\u00e1 diagnostika, kter\u00e1 je z\u00e1kladem pro&nbsp;vy\u0161et\u0159en\u00ed PGT-M.&nbsp;Jedn\u00e1 se&nbsp;o&nbsp;vy\u0161et\u0159en\u00ed cel\u00e9ho genomu, krom\u011b vy\u0161et\u0159en\u00ed jak\u00e9hokoli monogenn\u00edho onemocn\u011bn\u00ed tedy z\u00e1rove\u0148 umo\u017e\u0148uje orienta\u010dn\u00ed screeningov\u00e9 vy\u0161et\u0159en\u00ed kvantitativn\u00edch zm\u011bn v\u0161ech chromosom\u016f (PGT-A). 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