{"id":1776,"date":"2023-07-12T11:53:16","date_gmt":"2023-07-12T09:53:16","guid":{"rendered":"https:\/\/genocan.eu\/?p=1776"},"modified":"2023-07-14T11:20:14","modified_gmt":"2023-07-14T09:20:14","slug":"cestina-novy-balicek-genetickych-testu-pro-border-kolie","status":"publish","type":"post","link":"https:\/\/genocan.eu\/cs\/nezarazene\/cestina-novy-balicek-genetickych-testu-pro-border-kolie\/","title":{"rendered":"Nov\u00fd bal\u00ed\u010dek genetick\u00fdch test\u016f pro border k\u00f3lie"},"content":{"rendered":"

V tomto p\u0159\u00edsp\u011bvku bychom V\u00e1m r\u00e1di p\u0159edstavili n\u00e1\u0161 nov\u00fd bal\u00ed\u010dek genetick\u00fdch test\u016f pro border k\u00f3lie. U border k\u00f3li\u00ed se vyskytuj\u00ed vyskytuj\u00ed genetick\u00e9 choroby, kter\u00e9 mohou v\u00e9st k z\u00e1va\u017en\u00fdm zdravotn\u00edm posti\u017een\u00edm u potomk\u016f, genetick\u00e9 testov\u00e1n\u00ed tak p\u0159edstavuje velmi \u00fa\u010dinnou formu prevence. Proto jsou u chovn\u00fdch jedinc\u016f doporu\u010deny ur\u010dit\u00e9 genetick\u00e9 testy, jak u psa tak u fenky, p\u0159ed pl\u00e1novan\u00fdm kryt\u00edm. V dal\u0161\u00ed \u010d\u00e1sti \u010dl\u00e1nku najdete popis nejb\u011b\u017en\u011bj\u0161\u00edch genetick\u00fdch chorob u border koli\u00ed, kter\u00e9 jsou sou\u010d\u00e1st\u00ed na\u0161eho bal\u00ed\u010dku Border k\u00f3lie XL Panel – GenoCan.eu<\/a><\/p>\n\n\n\n

Anom\u00e1lie o\u010d\u00ed u k\u00f3li\u00ed (CEA)<\/strong> – Anom\u00e1lie oka koli\u00ed m\u00e1 sv\u016fj p\u016fvod v odchylk\u00e1ch p\u0159i v\u00fdvoji o\u010dn\u00edch tk\u00e1n\u00ed je\u0161t\u011b b\u011bhem embryon\u00e1ln\u00edho obdob\u00ed. Toto posti\u017een\u00ed oka se t\u00fdk\u00e1 b\u011blma, c\u00e9vnatky, s\u00edtnice i c\u00e9v a disku zrakov\u00e9ho nervu. Projevuje se r\u016fzn\u00fdmi p\u0159\u00edznaky, jako je nedostate\u010dn\u00e9 prokrven\u00ed a ztr\u00e1ta pigmentu, nedostate\u010dn\u00fd v\u00fdvoj c\u00e9vnatky, odchylky v s\u00edtnici nebo roz\u0161t\u011bpy zrakov\u00e9ho nervu. Obvykle jsou posti\u017eeny ob\u011b o\u010di. P\u0159\u00edznaky mohou b\u00fdt r\u016fzn\u011b siln\u00e9, kombinovat se navz\u00e1jem a mohou se m\u011bnit a zhor\u0161ovat b\u011bhem \u017eivota. Onemocn\u011bn\u00ed m\u016f\u017ee v\u00e9st ke slepot\u011b. Pro diagn\u00f3zu oka koli\u00ed se obvykle prov\u00e1d\u00ed o\u010dn\u00ed vy\u0161et\u0159en\u00ed u \u0161t\u011bn\u011bte v prvn\u00edch 3 m\u011bs\u00edc\u00edch \u017eivota, kter\u00e9 m\u016f\u017ee b\u00fdt potvrzeno genetick\u00fdm testem. Toto posti\u017een\u00ed je d\u011bdi\u010dn\u00e9 a p\u0159en\u00e1\u0161\u00ed se autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem. To znamen\u00e1, \u017ee pes \u010di fenka mus\u00ed zd\u011bdit ob\u011b mutovan\u00e9 kopie genu od sv\u00fdch rodi\u010d\u016f, kte\u0159\u00ed jsou p\u0159ena\u0161e\u010di tohoto onemocn\u011bn\u00ed.<\/p>\n\n\n\n

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Vy\u0161et\u0159en\u00ed oka u border kolie. Kredit: Hillary Kladke\/Getty Images<\/em><\/figcaption><\/figure>\n\n\n\n

Degenerativn\u00ed myelopatie<\/strong> (DM) <\/strong>– Toto nervosvalov\u00e9 onemocn\u011bn\u00ed zp\u016fsobuj\u00edc\u00ed postupn\u00fd \u00fabytek svalov\u00e9 hmoty na zadn\u00edch kon\u010detin\u00e1ch a z\u00e1dech, co\u017e se projevuje \u0161patnou koordinac\u00ed pohyb\u016f, st\u00ed\u017eenou a asymetrickou ch\u016fz\u00ed, pop\u0159. inkontinenc\u00ed. Onemocn\u011bn\u00ed postihuje celou \u0159adu ps\u00edch plemen (pops\u00e1no u v\u00edce jak 100 ps\u00edch plemen) a projevuje se ve st\u0159edn\u00edm a\u017e vy\u0161\u0161\u00edm v\u011bku. Onemocn\u011bn\u00ed je bohu\u017eel nel\u00e9\u010diteln\u00e9, postupn\u011b se zhor\u0161uje, po 3 \u2013 5 letech od prvn\u00edho projevu nemoci zpravidla doch\u00e1z\u00ed k \u00famrt\u00ed v d\u016fsledku celkov\u00e9 slabosti a ochrnut\u00ed d\u00fdchac\u00edch sval\u016f.<\/p>\n\n\n\n

Mnoho\u010detn\u00e1 l\u00e9kov\u00e1 rezistence (MDR1)<\/strong> – Mnoho\u010detn\u00e1 l\u00e9kov\u00e1 rezistence je d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed, kter\u00e9 zp\u016fsobuje, \u017ee posti\u017een\u00ed psi jsou mimo\u0159\u00e1dn\u011b citliv\u00ed na n\u011bkter\u00e9 l\u00e9ky (ivermektin, loperamid a mnoho dal\u0161\u00edch). Expozice t\u011bmto skupin\u00e1m l\u00e9\u010div m\u016f\u017ee v\u00e9st k z\u00e1va\u017en\u00fdm neurologick\u00fdm p\u0159\u00edznak\u016fm, jako je hypersalivace, ataxie, slepota, t\u0159es, respira\u010dn\u00ed pot\u00ed\u017ee a n\u011bkdy i k \u00famrt\u00ed. P\u0159\u00ed\u010dinou onemocn\u011bn\u00ed je mutace v genu, kter\u00fd produkuje P-glykoprotein, jeho\u017e \u00fakolem je transport l\u00e9\u010div a jejich vylu\u010dov\u00e1n\u00ed. Onemocn\u011bn\u00ed se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem, co\u017e znamen\u00e1, \u017ee posti\u017een\u00ed jedinci mus\u00ed zd\u011bdit mutaci na obou kopi\u00edch genu. Ov\u0161em jsou zn\u00e1my p\u0159\u00edpady, \u017ee i jedinci p\u0159ena\u0161e\u010di mohou m\u00edt m\u00edrnou ne\u017e\u00e1douc\u00ed reakci po pod\u00e1n\u00ed t\u011bchto l\u00e9\u010div.<\/p>\n\n\n\n

Goniodysgeneze a glaukom (GGD)<\/strong> – Toto onemocn\u011bn\u00ed se vyzna\u010duje \u010d\u00e1ste\u010dn\u00fdm nebo \u00fapln\u00fdm uzav\u0159en\u00edm m\u00edsta v oku naz\u00fdvan\u00e9ho iridokorne\u00e1ln\u00ed \u00fahel. Kv\u016fli tomu se v p\u0159edn\u00ed \u010d\u00e1sti oka hromad\u00ed tekutina a zvy\u0161uje nitroo\u010dn\u00ed tlak, co\u017e vede k vzniku glaukomu. Glaukom, kter\u00fd se n\u011bkdy naz\u00fdv\u00e1 zelen\u00fd z\u00e1kal, je bolestiv\u00e9 onemocn\u011bn\u00ed, kter\u00e9 po\u0161kozuje vrstvu tk\u00e1n\u011b na s\u00edtnici a m\u016f\u017ee zp\u016fsobit slepotu. Onemocn\u011bn\u00ed je zp\u016fsobeno zm\u011bnou (mutac\u00ed) ve vlastnostech proteinu OLFML3, co\u017e zp\u016fsobuje tvorbu a ukl\u00e1d\u00e1n\u00ed abnorm\u00e1ln\u00edch bun\u011bk v iridokorne\u00e1ln\u00edm \u00fahlu. Existuj\u00ed dv\u011b formy tohoto onemocn\u011bn\u00ed – m\u00edrn\u00e1 a t\u011b\u017ek\u00e1. T\u011b\u017ek\u00e1 forma je spojen\u00e1 s konkr\u00e9tn\u00ed mutac\u00ed proteinu OLFML3 a toto onemocn\u011bn\u00ed se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem.<\/p>\n\n\n\n

St\u0159evn\u00ed malabsorpce kobalaminu (IGS)<\/strong> – Border kolie tak\u00e9 trp\u00ed metabolickou poruchou, kter\u00e1 ovliv\u0148uje schopnost t\u011bla vst\u0159eb\u00e1vat kobalamin z potravy. Kobalamin, zn\u00e1m\u00fd tak\u00e9 jako vitamin B12, je nezbytn\u00fd pro spr\u00e1vnou funkci nervov\u00e9ho syst\u00e9mu, tvorbu krve a synt\u00e9zu DNA. Jeho nedostatek je problematick\u00fd pro v\u011bt\u0161inu org\u00e1n\u016f, kter\u00e9 pot\u0159ebuj\u00ed pravidelnou obnovu bun\u011bk. Nedostatek kobalaminu se projevuje neprosp\u00edv\u00e1n\u00edm, neregenerativn\u00ed an\u00e9mi\u00ed, chronick\u00fdm nedostatkem chuti k j\u00eddlu a zm\u011bnami v kostn\u00ed d\u0159eni. Toto onemocn\u011bn\u00ed se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem.<\/p>\n\n\n\n

Neuron\u00e1ln\u00ed Ceroidn\u00ed Lipofuscin\u00f3za (NCL)<\/strong> – Neuron\u00e1ln\u00ed ceroidn\u00ed lipofuscin\u00f3za (NCL) je neurodegenerativn\u00ed onemocn\u011bn\u00ed. Posti\u017een\u00ed psi nemaj\u00ed dostate\u010dnou aktivitu specifick\u00e9ho enzymu nezbytn\u00e9ho pro norm\u00e1ln\u00ed bun\u011b\u010dn\u00fd metabolismus. V d\u016fsledku toho doch\u00e1z\u00ed k abnorm\u00e1ln\u00edmu hromad\u011bn\u00ed odpadn\u00edch l\u00e1tek (ceroidu a lipofuschinu) p\u0159edev\u0161\u00edm v bu\u0148k\u00e1ch nervov\u00e9ho syst\u00e9mu, co\u017e vede k \u0159ad\u011b poruch nervov\u00e9ho syst\u00e9mu. Klinick\u00e9 projevy se objevuj\u00ed kolem 15-20. m\u011bs\u00edce \u017eivota. Mezi n\u011b pat\u0159\u00ed zm\u011bny chov\u00e1n\u00ed, ztr\u00e1ta z\u00e1jmu o hru, halucinace, dezorientace a agrese. P\u0159\u00edznaky se \u010dasem zhor\u0161uj\u00ed a zahrnuj\u00ed ataxii, p\u00e1dy, z\u00e1chvaty, abnorm\u00e1ln\u00ed ch\u016fzi, letargii a ztr\u00e1tu zraku. Psi posti\u017een\u00ed t\u00edmto onemocn\u011bn\u00edm se z\u0159\u00eddka do\u017e\u00edvaj\u00ed v\u00edce ne\u017e 32 m\u011bs\u00edc\u016f. V\u00fdskyt mutovan\u00e9 alely v populaci border koli\u00ed je pom\u011brn\u011b vz\u00e1cn\u00fd. D\u011bdi\u010dnost je autosom\u00e1ln\u011b recesivn\u00ed.<\/p>\n\n\n\n

Raine syndrom (RS)<\/strong> – Raine syndrom neboli dent\u00e1ln\u00ed hypomineralizace je v ps\u00ed \u0159\u00ed\u0161i vz\u00e1cn\u00e9 onemocn\u011bn\u00ed specifick\u00e9 pouze pro border kolie. Hlavn\u00edm p\u0159\u00edznakem je rozs\u00e1hl\u00e9 posti\u017een\u00ed chrupu s prasklinami ve sklovin\u011b, hn\u011bd\u00e9 zbarven\u00ed skloviny, demineralizace zubu, osteomalacie a z\u00e1n\u011bty \u0161\u00ed\u0159\u00edc\u00ed se do okol\u00ed, vedouc\u00ed k posti\u017een\u00ed z\u00e1v\u011bsn\u00e9ho apar\u00e1tu a\u017e ke ztr\u00e1t\u011b chrupu. Onemocn\u011bn\u00ed nen\u00ed l\u00e9\u010diteln\u00e9, pouze v ran\u00e9m st\u00e1diu lze zm\u00edrnit p\u0159\u00edznaky. D\u011bdi\u010dnost je autozom\u00e1ln\u011b recesivn\u00ed.<\/p>\n\n\n\n

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Po\u0161kozen\u00ed zub\u016f u Raine syndromu (dent\u00e1ln\u00ed hypomineralizace). Kredit: Hyt\u00f6nen et al., 2016, PMID: 27187611<\/a><\/em><\/figcaption><\/figure>\n\n\n\n

Syndrom uv\u011bzn\u011bn\u00fdch neutrofil\u016f (TNS)<\/strong> – Onemocn\u011bn\u00ed je charakterizov\u00e1no nedostatkem ur\u010dit\u00e9ho typu b\u00edl\u00fdch krvinek a zv\u00fd\u0161en\u00fdm mno\u017estv\u00edm ur\u010dit\u00fdch bun\u011bk v kostn\u00ed d\u0159eni. Klinicky se projevuje zpo\u017ed\u011bn\u00edm r\u016fstu, nedostate\u010dn\u00fdm p\u0159ib\u00edr\u00e1n\u00edm na v\u00e1ze a v\u011bt\u0161\u00ed n\u00e1chylnost\u00ed ke dlouhodob\u00fdm infekc\u00edm kv\u016fli oslaben\u00e9 imunit\u011b. Mlad\u00ed jedinci s v\u00e1\u017en\u00fdm posti\u017een\u00edm mohou m\u00edt neobvykl\u00fd v\u00fdvoj obli\u010deje s uzou\u010dkou lebkou, kterou chovatel\u00e9 popisuj\u00ed jako podobnou fretce. N\u011bkte\u0159\u00ed jedinci se s onemocn\u011bn\u00edm setk\u00e1vaj\u00ed ji\u017e v prvn\u00edch t\u00fddnech \u017eivota, zat\u00edmco u jin\u00fdch se projevuje neadekv\u00e1tn\u00ed reakc\u00ed na o\u010dkov\u00e1n\u00ed ve v\u011bku 12 t\u00fddn\u016f. V n\u011bkter\u00fdch p\u0159\u00edpadech se p\u0159\u00edznaky mohou objevit a\u017e ve dvou a v\u00edce letech v m\u00edrn\u011bj\u0161\u00ed form\u011b. Toto onemocn\u011bn\u00ed se d\u011bd\u00ed autosom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem.<\/p>\n\n\n\n

Senzorick\u00e1 neuropatie (SN)<\/strong> – T\u011b\u017ek\u00e9 neurologick\u00e9 onemocn\u011bn\u00ed, projevuj\u00edc\u00ed se postupnou degenerac\u00ed p\u0159edev\u0161\u00edm senzorick\u00fdch nervov\u00fdch bun\u011bk. V men\u0161\u00ed m\u00ed\u0159e jsou postihnuty i motorick\u00e9 nervov\u00e9 bu\u0148ky. Onemocn\u011bn\u00ed pozorujeme ji\u017e u \u0161t\u011b\u0148at ve v\u011bku 2\u20137 m\u011bs\u00edc\u016f. Mezi pozorovan\u00e9 klinick\u00e9 p\u0159\u00edznaky pat\u0159\u00ed postupn\u00e9 zhor\u0161ov\u00e1n\u00ed koordinace a omezen\u00e1 hybnost kloub\u016f. Jedinec ztr\u00e1c\u00ed schopnost vn\u00edmat, jak jsou jeho svaly a \u0161lachy nat\u00e1hnut\u00e9, nespr\u00e1vn\u011b vn\u00edm\u00e1 pozici sv\u00e9ho t\u011bla a nem\u016f\u017ee kontrolovat sv\u00e9 pohyby. Krom\u011b toho tak\u00e9 nemus\u00ed c\u00edtit bolest, co\u017e \u010dasto vede k \u010dast\u011bj\u0161\u00edm v\u00fdskytu zran\u011bn\u00ed (tlapky, ocas, tlama).<\/p>\n\n\n\n

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Po\u0161kozen\u00ed kon\u010detiny u senzorick\u00e9 neuropatie. Pes nec\u00edt\u00ed bolest, \u010dasto doch\u00e1z\u00ed k sebepo\u0161kozov\u00e1n\u00ed. Kredit: Forman et al.,2016, PMID: 27527794<\/a><\/em><\/figcaption><\/figure>\n\n\n\n

Malign\u00ed hypertermie (MH) <\/strong>– Onemocn\u011bn\u00ed je zp\u016fsobeno vrozenou poruchou kostern\u00edho svalstva, kdy m\u016f\u017ee doch\u00e1zet k v\u00fdrazn\u00e9mu zv\u00fd\u0161en\u00ed teploty (hypertermii) a\u017e na 45\u00b0C, zrychlen\u00e9mu a nepravideln\u00e9mu tepu (tachykardie a arytmie), zrychlen\u00e9mu d\u00fdch\u00e1n\u00ed, svalov\u00e9 ztuhlosti a m\u016f\u017ee skon\u010dit ren\u00e1ln\u00edm selh\u00e1n\u00edm a smrt\u00ed. Spou\u0161t\u011b\u010dem m\u016f\u017ee b\u00fdt u geneticky predisponovan\u00fdch jedinc\u016f tak\u00e9 pod\u00e1n\u00ed n\u011bkter\u00fdch volatiln\u00edch anestetik. D\u011bdi\u010dnost je autosom\u00e1ln\u011b dominantn\u00ed.<\/p>\n\n\n\n

\u010casn\u00e1 ztr\u00e1ta sluchu (EAOD)<\/strong> – Jedn\u00e1 se o genetick\u00e9 onemocn\u011bn\u00ed, kter\u00e9 se projevuje zhor\u0161en\u00edm a\u017e ztr\u00e1tou sluchu v dosp\u011blosti \u010di st\u00e1\u0159\u00ed. Posti\u017een\u00ed jedinci nej\u010dast\u011bji ztr\u00e1cej\u00ed sluch mezi 3-5. rokem \u017eivota, p\u0159\u00edpadn\u011b pozd\u011bji. Ztr\u00e1ta sluchu je postupn\u00e1, nikoli n\u00e1hl\u00e1. Pomoc\u00ed anal\u00fdzy SNP marker\u016f testujeme rizikovost, tedy \u017ee dan\u00fd jedinec m\u016f\u017ee trp\u011bt onemocn\u011bn\u00edm EAOD nebo ho p\u0159en\u00e1\u0161\u00ed. P\u0159esn\u00e1 mutace v\u0161ak nen\u00ed zn\u00e1m\u00e1, tedy test je orienta\u010dn\u00ed a chovatel\u00e9 by se m\u011bly vyvarovat p\u00e1\u0159en\u00ed jedinc\u016f, kte\u0159\u00ed jsou oba v riziku p\u0159ena\u0161e\u010dstv\u00ed. P\u0159edpokl\u00e1d\u00e1 se autozom\u00e1ln\u011b recesivn\u00ed d\u011bdi\u010dnost.<\/p>\n\n\n\n

Genetick\u00e9 testov\u00e1n\u00ed p\u0159edstavuje velmi v\u00fdznamnou prevenci genetick\u00fdch vad u ps\u00edch plemen. Pomoc\u00ed testov\u00e1n\u00ed lze dos\u00e1hnout v\u00fdrazn\u00e9ho sn\u00ed\u017een\u00ed narozen\u00ed \u0161t\u011b\u0148at s genetick\u00fdm onemocn\u011bn\u00edm.<\/strong><\/p>","protected":false},"excerpt":{"rendered":"

V tomto p\u0159\u00edsp\u011bvku bychom V\u00e1m r\u00e1di p\u0159edstavili n\u00e1\u0161 nov\u00fd bal\u00ed\u010dek genetick\u00fdch test\u016f pro border k\u00f3lie. U border k\u00f3li\u00ed se vyskytuj\u00ed vyskytuj\u00ed genetick\u00e9 choroby, kter\u00e9 mohou v\u00e9st k z\u00e1va\u017en\u00fdm zdravotn\u00edm posti\u017een\u00edm u potomk\u016f, genetick\u00e9 testov\u00e1n\u00ed tak p\u0159edstavuje velmi \u00fa\u010dinnou formu prevence. Proto jsou u chovn\u00fdch jedinc\u016f doporu\u010deny ur\u010dit\u00e9 genetick\u00e9 testy, jak u psa tak u fenky, […]<\/p>\n","protected":false},"author":2,"featured_media":1778,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_editorskit_title_hidden":false,"_editorskit_reading_time":0,"_editorskit_is_block_options_detached":false,"_editorskit_block_options_position":"{}","om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[1,17],"tags":[],"class_list":["post-1776","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-nezarazene","category-news"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts\/1776","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/comments?post=1776"}],"version-history":[{"count":0,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts\/1776\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media\/1778"}],"wp:attachment":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media?parent=1776"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/categories?post=1776"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/tags?post=1776"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}