{"id":2839,"date":"2025-04-17T11:35:00","date_gmt":"2025-04-17T09:35:00","guid":{"rendered":"https:\/\/genocan.eu\/?p=2839"},"modified":"2025-04-18T22:47:34","modified_gmt":"2025-04-18T20:47:34","slug":"cestina-specialni-balicek-genetickych-testu-pro-australske-ovcaky","status":"publish","type":"post","link":"https:\/\/genocan.eu\/cs\/nezarazene\/cestina-specialni-balicek-genetickych-testu-pro-australske-ovcaky\/","title":{"rendered":"Speci\u00e1ln\u00ed bal\u00ed\u010dek genetick\u00fdch test\u016f pro australsk\u00e9 ov\u010d\u00e1ky"},"content":{"rendered":"

Genetick\u00e9 testov\u00e1n\u00ed je u mnoha ps\u00edch plemen \u00fa\u010dinn\u00fdm n\u00e1strojem prevence genetick\u00fdch onemocn\u011bn\u00ed. Rovn\u011b\u017e u australsk\u00e9ho ov\u010d\u00e1ka je mo\u017en\u00e9 vyu\u017e\u00edt genetick\u00e9 testov\u00e1n\u00ed pro zn\u00e1m\u00e9 choroby a znaky u tohoto plemene. Testov\u00e1n\u00ed je doporu\u010deno u psa a fenky p\u0159ed pl\u00e1novan\u00fdm kryt\u00edm. V dal\u0161\u00ed \u010d\u00e1sti \u010dl\u00e1nku najdete popis genetick\u00fdch chorob u australsk\u00e9ho ov\u010d\u00e1ka, kter\u00e9 jsou sou\u010d\u00e1st\u00ed na\u0161eho bal\u00ed\u010dku Australsk\u00fd ov\u010d\u00e1k PANEL – GenoCan.eu<\/a>.<\/p>\n\n\n\n

Malign\u00ed hypertermie<\/strong> (MH)<\/strong> – Malign\u00ed hypertermie je vz\u00e1cn\u00e9 onemocn\u011bn\u00ed v\u202fb\u011b\u017en\u00e9m \u017eivot\u011b bez p\u0159\u00edznak\u016f, ale z\u00e1va\u017en\u00e9 komplikace se objevuj\u00ed a\u017e p\u0159i anestezii na n\u011bkter\u00e9 pou\u017e\u00edvan\u00e9 l\u00e9ky (nap\u0159. halotan, isofluran nebo sevofluran), a kter\u00e9 m\u016f\u017eou b\u00fdt fat\u00e1ln\u00ed. MH je choroba kostern\u00edho svalstva, kdy posti\u017een\u00ed jednici nemaj\u00ed \u017e\u00e1dn\u00e9 klinick\u00e9 p\u0159\u00edznaky, dokud nejsou vystaveni spou\u0161t\u011b\u010d\u016fm, v\u202ftomto p\u0159\u00edpad\u011b anestetik\u016fm. Doch\u00e1z\u00ed p\u0159i n\u00ed k prodlou\u017een\u00ed svalov\u00e9 kontrakce bez relaxace a nadprodukce tepla (hypertermii), svalov\u00e9 ztuhlosti a tachykardii. P\u0159i komplikac\u00edch je nutn\u00e9 p\u0159eru\u0161en\u00ed anestezie, chlazen\u00ed organismu a pod\u00e1n\u00ed antidotik, l\u00e1tek sni\u017euj\u00edc\u00edch svalov\u00e9 nap\u011bt\u00ed. Pokud anestezie p\u0159eru\u0161ena nen\u00ed, m\u016f\u017ee doj\u00edt k arytmii, rabdomyol\u00fdze, selh\u00e1n\u00ed ledvin a smrti. Pro psy s\u202fMH lze zvolit alternativn\u00ed anestetika. <\/p>\n\n\n\n

MH byla pops\u00e1na u lid\u00ed a r\u016fzn\u00fdch druh\u016f zv\u00ed\u0159at, jako psi, kon\u011b nebo prasata. U ps\u016f je d\u011bdi\u010dnost autozom\u00e1ln\u011b dominantn\u00ed, kdy u dan\u00e9ho jedince sta\u010d\u00ed jedin\u00e1 kopie genu pro manifestaci onemocn\u011bn\u00ed a riziko p\u0159enosu posti\u017een\u00ed na potomka je 50%. <\/p>\n\n\n\n

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Degenerativn\u00ed myelopatie (DM)<\/strong> <\/p>\n\n\n\n

Degenerativn\u00ed myelopatie je\u202fnel\u00e9\u010diteln\u00e9, postupn\u011b se rozv\u00edjej\u00edc\u00ed onemocn\u011bn\u00ed, kter\u00e1 se vyskytuje u cel\u00e9 \u0161k\u00e1ly ps\u00edch plemen s\u202fn\u00e1stupem p\u0159\u00edznak\u016f v\u011bt\u0161inou kolem osm\u00e9ho roku \u017eivota a u obou pohlav\u00ed se stejnou frekvenc\u00ed. S p\u0159ib\u00fdvaj\u00edc\u00edm v\u011bkem psa se zhor\u0161uje porucha koordinace pohyb\u016f, n\u00e1sleduje atrofie svalstva, ataxie, inkontinence, d\u00e1le neschopnost pohybu p\u00e1nevn\u00edch kon\u010detin spojen\u00e1 s\u202fk\u0159e\u010d\u00ed vedouc\u00ed k\u202f\u00fapln\u00e9 ztr\u00e1t\u011b hybnosti p\u00e1nevn\u00edch kon\u010detin.  <\/p>\n\n\n\n

Za v\u00fdznamn\u00fd faktor rozvoje onemocn\u011bn\u00ed se pova\u017euje enzym superoxidismut\u00e1za 1, kter\u00fd je obsa\u017een v\u202fbu\u0148k\u00e1ch a je v\u00fdznamn\u00fd antioxidant. Pokud je nefunk\u010dn\u00ed, m\u016f\u017ee se v\u202fbu\u0148k\u00e1ch ukl\u00e1dat a p\u016fsobit dokonce toxicky.<\/p>\n\n\n\n

DM je autozom\u00e1ln\u011b recesivn\u00ed onemocn\u011bn\u00ed s\u202fvariabiln\u00ed penetranc\u00ed a projevuje se u jedinc\u016f, kte\u0159\u00ed zd\u011bd\u00ed mutovan\u00fd gen od obou rodi\u010d\u016f. Velmi vz\u00e1cn\u011b se m\u016f\u017ee objevit onemocn\u011bn\u00ed u heterozygotn\u00edch jedinc\u016f (p\u0159ena\u0161e\u010d\u016f). Sou\u010dasn\u011b tak\u00e9 pes s\u202fob\u011bma zmutovan\u00fdmi alelami\u202fnemus\u00ed\u202fonemocn\u011bt a je pouze ve vysok\u00e9m riziku rozvoje onemocn\u011bn\u00ed. Kdy a zda se objev\u00ed prvn\u00ed p\u0159\u00edznaky, a jak z\u00e1va\u017en\u00fd pr\u016fb\u011bh onemocn\u011bn\u00ed bude nelze t\u00edmto zp\u016fsobem zjistit. <\/p>\n\n\n\n

\"\"
Obr\u00e1zek 1. Histopatologie m\u00edchy. A) Norm\u00e1ln\u00ed pes B) Pes posti\u017een\u00fd DM: Na obr\u00e1zc\u00edch je vid\u011bt \u00fabytek b\u00edl\u00e9 hmoty (mod\u0159e) u nemocn\u00e9ho psa.<\/em>
Zdroj: Awano T, et al. PNAS (2009). 106(8):2794-2799 and March PA, et al. Vet Path (2009). 46:241-250.<\/em> <\/figcaption><\/figure>\n\n\n\n

B-Lokus – \u010cerven\u00e1 barva<\/strong> <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

V\u202fd\u011bdi\u010dnosti barev je pops\u00e1na hierarchie a vz\u00e1jemn\u00e9 p\u016fsoben\u00ed nejd\u016fle\u017eit\u011bj\u0161\u00edch gen\u016f. Krom\u011b hlavn\u00edch gen\u016f MC1R (lokus E) a ASIP (lokus A) pro synt\u00e9zu eumelaninu (hn\u011bd\u00fd a \u010dern\u00fd pigment) nebo feomelaninu (sv\u011btl\u00fd a \u010derven\u00fd pigment) bylo v\u202fsouvislosti se zbarven\u00edm srsti u ps\u016f identifikov\u00e1no n\u011bkolik dal\u0161\u00edch gen\u016f nap\u0159. TYRP1 (lokus B, pro \u010dern\u00e9 nebo hn\u011bd\u00e9 a\u017e \u010derven\u00e9 zbarven\u00ed), MLPH (lokus D, \u0159ed\u00ed tmav\u00fd pigment), MFSD12 (\u0159ed\u00edc\u00ed lokus I a\u017e na b\u00edl\u00e9 zbarven\u00ed srsti) aj.  <\/p>\n\n\n\n

\u010cern\u00e9 zbarven\u00ed srsti i nosu je podm\u00edn\u011bno dominantn\u00ed alelou B, tedy sta\u010d\u00ed p\u0159\u00edtomnost pouze jedn\u00e9 t\u00e9to alely (genotyp B\/B nebo B\/b). Pro \u010derven\u00e9 zbarven\u00ed je pak pot\u0159eba obou recesivn\u00edch alel b (genotyp b\/b). Byly detekov\u00e1ny 3 varianty genu TYRP1: c.991C>T (bs), c.1033_1036delCCT (bd) a c.121T>A (bc). Pouze u plemene australsk\u00e9ho ov\u010d\u00e1ka byla identifikovan\u00e1 \u010dtvrt\u00e1 varianta:\u202fbaus\u202f<\/sup>c.555T>G. <\/p>\n\n\n\n

Pokud jedinec nese varianty bc \/ bc nebo bd \/ bd nebo bs \/ bs, jedinec by m\u011bl b\u00fdt \u010derven\u011b zbarven\u00fd na typick\u00fdch m\u00edstech pro dan\u00e9 plemeno. Pokud v\u0161ak nese bc \/ bs nebo bc \/ bd nebo bd \/ bs, ale nen\u00ed mo\u017en\u00e9 popsat genotyp pro B-lokus bez testov\u00e1n\u00ed rodi\u010d\u016f, jeliko\u017e nelze rozeznat, zdali se varianty nach\u00e1zej\u00ed na jedn\u00e9 kopii genu nebo na obou (nap\u0159. nelze rozeznat B \/ bc+bs od bc \/ bs).<\/p>\n\n\n\n

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Heredit\u00e1rn\u00ed katarakta (HC-HSF4)<\/strong><\/p>\n\n\n\n

Heredit\u00e1rn\u00ed katarakta (\u0161ed\u00fd z\u00e1kal), je onemocn\u011bn\u00ed postihuj\u00edc\u00ed o\u010dn\u00ed \u010do\u010dku, p\u0159i kter\u00e9m se \u010do\u010dka postupn\u011b zakaluje a pat\u0159\u00ed mezi nejv\u00fdznamn\u011bj\u0161\u00ed p\u0159\u00ed\u010diny slepoty u ps\u016f.  <\/p>\n\n\n\n

Prim\u00e1rn\u00ed d\u011bdi\u010dn\u00e1 forma katarakty postihuje mnoho plemen ps\u016f, p\u0159i\u010dem\u017e mezi jednotliv\u00fdmi plemeny se li\u0161\u00ed zejm\u00e9na v\u011bkem n\u00e1stupu onemocn\u011bn\u00ed, rychlost\u00ed a stupn\u011bm p\u0159\u00edznak\u016f, um\u00edst\u011bn\u00edm z\u00e1kalu v\u202fo\u010dn\u00ed \u010do\u010dce, ale m\u016f\u017ee se r\u016fznit i zp\u016fsob d\u011bdi\u010dnosti katarakty u jednotliv\u00fdch plemen. Naopak v\u202fr\u00e1mci jednoho plemene d\u011bdi\u010dn\u00e1 katarakta obvykle vykazuje velmi podobn\u00e9 klinick\u00e9 projevy. <\/p>\n\n\n\n

Pouze u staford\u0161\u00edrsk\u00e9ho bulteri\u00e9ra, bostonsk\u00e9ho teri\u00e9ra, francouzsk\u00e9ho buldo\u010dka a pr\u00e1v\u011b australsk\u00e9ho ov\u010d\u00e1ka, byla identifikov\u00e1na hlavn\u00ed genetick\u00e1 mutace, zodpov\u011bdn\u00e1 za vznik heredit\u00e1rn\u00ed katarakty. U prvn\u00edch t\u0159\u00ed plemen se mutace d\u011bd\u00ed autosom\u00e1ln\u011b recesivn\u011b a klinick\u00e9 p\u0159\u00edznaky se objev\u00ed b\u011bhem prvn\u00edho roku \u017eivota. Zat\u00edmco u australsk\u00fdch ov\u010d\u00e1k\u016f se vyskytuje jin\u00e1 mutace t\u00e9ho\u017e genu a d\u011bd\u00ed se autozom\u00e1ln\u011b dominantn\u011b. Nicm\u00e9n\u011b u v\u0161ech p\u0159ena\u0161e\u010d\u016f delece nemus\u00ed doj\u00edt k\u202fpropuknut\u00ed nemoci, tzn. jde o ne\u00faplnou penetranci. <\/p>\n\n\n\n

<\/p>\n\n\n\n

Mnoho\u010detn\u00e1 l\u00e9kov\u00e1 rezistence (MDR1)<\/strong><\/p>\n\n\n\n

Mnoho\u010detn\u00e1 l\u00e9kov\u00e1 rezistence je d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed u koli\u00ed, \u0161elti\u00ed, australsk\u00fdch ov\u010d\u00e1k\u016f, bobtail\u016f, border koli\u00ed a mnoh\u00fdch dal\u0161\u00edch, 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 dal\u0161\u00ed). 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>\n\n\n\n

P\u0159\u00ed\u010dinou onemocn\u011bn\u00ed je nefunk\u010dn\u00ed P-glykoprotein. Jeho \u00fakolem je transport l\u00e9\u010div a toxick\u00fdch l\u00e1tek z mozku do krve a hraje kl\u00ed\u010dovou roli p\u0159i rozkl\u00e1d\u00e1n\u00ed t\u011bchto l\u00e9k\u016f. Pokud je tento protein nefunk\u010dn\u00ed, stoup\u00e1 hladina t\u011bchto l\u00e1tek a v\u00fdsledkem je neurotoxick\u00e1 reakce.  <\/p>\n\n\n\n

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. Jsou zn\u00e1my p\u0159\u00edpady, \u017ee i 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

Progresivn\u00ed degenerace ty\u010dinek a \u010d\u00edpk\u016f (PRA-prcd<\/strong><\/strong>)<\/p>\n\n\n\n

Progresivn\u00ed atrofie s\u00edtnice, progresivn\u00ed degenerace ty\u010dinek (PRA-prcd) je d\u011bdi\u010dn\u00e9 o\u010dn\u00ed onemocn\u011bn\u00ed s pozdn\u00edm n\u00e1stupem postihuj\u00edc\u00ed mnoho plemen ps\u016f. PRA-prcd vznik\u00e1 v d\u016fsledku degenerace a odum\u00edr\u00e1n\u00ed sv\u011btlo\u010divn\u00fdch bun\u011bk s\u00edtnice (ty\u010dinky a \u010d\u00edpky). Nejprve svou funkci ztr\u00e1c\u00ed ty\u010dinky, postupem \u010dasu posti\u017een\u00ed psi ztr\u00e1cej\u00ed no\u010dn\u00ed vid\u011bn\u00ed. Pot\u00e9 se za\u010d\u00edn\u00e1 projevovat degenerace \u010d\u00edpk\u016f a psi za\u010d\u00ednaj\u00ed vykazovat zrakov\u00e9 poruchy za jasn\u00e9ho sv\u011btla. A\u010dkoli existuj\u00ed individu\u00e1ln\u00ed a plemenn\u00e9 rozd\u00edly ve v\u011bku n\u00e1stupu a rychlosti progrese onemocn\u011bn\u00ed, u v\u011bt\u0161iny ps\u016f nemoc nakonec vy\u00fast\u00ed ve slepotu.\u202f <\/p>\n\n\n\n

PRA-prcd je autozom\u00e1ln\u011b recesivn\u00ed a projev\u00ed se tak pouze u jedinc\u016f, kte\u0159\u00ed z\u00edskali mutovan\u00fd gen od obou sv\u00fdch rodi\u010d\u016f (recesivn\u00ed homozygoti).\u202f <\/p>\n\n\n\n

Anom\u00e1lie o\u010d\u00ed u k\u00f3li\u00ed (CEA)<\/strong><\/p>\n\n\n\n

Podle n\u00e1zvu je to onemocn\u011bn\u00ed postihuj\u00edc\u00ed kolie, ale postihuje hlavn\u011b plemena ov\u010d\u00e1ck\u00e1 a pasteveck\u00e1, jako sheltie, border a\u202fbearded kolie, australsk\u00e9 ov\u010d\u00e1ky a\u202fmnoh\u00fdch dal\u0161\u00edch. Ji\u017e v\u202fpr\u016fb\u011bhu embryon\u00e1ln\u00edho v\u00fdvoje doch\u00e1z\u00ed k\u202fchybn\u00e9mu, nedokonal\u00e9mu utv\u00e1\u0159en\u00ed (hypoplazii) c\u00e9vnatky, p\u0159\u00edpadn\u011b s\u00edtnice. CEA je p\u0159i oftalmologick\u00e9m vy\u0161et\u0159en\u00ed pozorovateln\u00e1 v\u202fbl\u00edzkosti optick\u00e9ho disku jako sv\u011btlej\u0161\u00ed nebo ten\u010d\u00ed oblast a d\u00e1 se diagnostikovat ji\u017e u mal\u00fdch \u0161t\u011b\u0148at. Nejvhodn\u011bj\u0161\u00ed dobou pro jejich vy\u0161et\u0159en\u00ed je v\u011bk 7-8 t\u00fddn\u016f. Pozd\u011bji (po 3. m\u011bs\u00edci v\u011bku) by u\u017e oftalmologick\u00e9 vy\u0161et\u0159en\u00ed nemuselo uk\u00e1zat p\u0159\u00edtomnosti onemocn\u011bn\u00ed. Obt\u00ed\u017en\u011bj\u0161\u00ed diagnostika m\u016f\u017ee b\u00fdt u ps\u016f se zbarven\u00edm \u201eblue merle\u201c, jejich\u017e vnit\u0159ek oka se p\u0159i o\u010dn\u00edm vy\u0161et\u0159en\u00ed m\u016f\u017ee jevit sv\u011btlej\u0161\u00ed. <\/p>\n\n\n\n

Vada je autosom\u00e1ln\u011b recesivn\u011b d\u011bdi\u010dn\u00e1, tzn. \u017ee nemoc se rozvine pouze u jedinc\u016f, kte\u0159\u00ed zd\u011bd\u00ed od obou sv\u00fdch rodi\u010d\u016f mutovan\u00fd gen.<\/p>\n\n\n\n

Hyperurikosurie<\/strong> (HUU)<\/strong> <\/p>\n\n\n\n

Hyperurikosurie je\u202fporucha vylu\u010dov\u00e1n\u00ed\u202fodpadn\u00edch b\u00edlkovin hlavn\u011b u plemene\u202fdalmatin, ale byla tak\u00e9 pops\u00e1na u australsk\u00fdch ov\u010d\u00e1k\u016f, anglick\u00fdch buldok\u016f, \u010dern\u00fdch rusk\u00fdch teri\u00e9r\u016f, pomeranian\u016f, americk\u00fdch stafford\u0161\u00edrsk\u00fdch teri\u00e9r\u016f, n\u011bmeck\u00fdch ov\u010d\u00e1k\u016f, velk\u00fdch kn\u00edra\u010d\u016f, parson\u016f a jack russell teri\u00e9r\u016f, boerboel\u016f a v\u00fdmarsk\u00fdch oha\u0159\u016f. Tento stav predisponuje posti\u017een\u00e9 jedince\u202fk tvorb\u011b mo\u010dov\u00fdch kamen\u016f. <\/p>\n\n\n\n

U zdrav\u00e9ho psa se puriny p\u0159ijat\u00e9 ve strav\u011b p\u0159em\u011bn\u00ed v j\u00e1trech na kyselinu mo\u010dovou a ta n\u00e1sledn\u011b na allantoin, kter\u00fd je rozpustn\u00fd a je vylu\u010dovan\u00fd mo\u010d\u00ed. U posti\u017een\u00e9ho jedince v\u011bt\u0161ina kyseliny mo\u010dov\u00e9 z\u016fst\u00e1v\u00e1 v nem\u011bnn\u00e9m stavu. Samotn\u00e1 vysok\u00e1 hladina kyseliny mo\u010dov\u00e9 v mo\u010di ned\u011bl\u00e1 probl\u00e9my, ale pokud krystalizuje, vznik\u00e1 mo\u010dov\u00fd p\u00edsek nebo kameny. Hyperurikosurie se d\u011bd\u00ed autozom\u00e1ln\u011b recesivn\u011b, tzn. \u017ee nemoc se rozvine pouze u jedinc\u016f, kte\u0159\u00ed zd\u011bd\u00ed od obou sv\u00fdch rodi\u010d\u016f mutovan\u00fd gen. <\/p>\n\n\n\n

Multifok\u00e1ln\u00ed retinopatie typ I (CMR1)<\/strong><\/p>\n\n\n\n

Multifok\u00e1ln\u00ed retinopatie typu 1 je genetick\u00e1 porucha o\u010d\u00ed, kter\u00e1 se projevuje degenerac\u00ed s\u00edtnice, co\u017e m\u016f\u017ee v\u00e9st k postupn\u00e9 ztr\u00e1t\u011b zraku a\u017e po \u00faplnou slepotu. Toto onemocn\u011bn\u00ed se vyskytuje u r\u016fzn\u00fdch plemen ps\u016f. Rozvoj onemocn\u011bn\u00ed je velmi rychl\u00fd, \u010dasto se objevuje p\u0159ed dosa\u017een\u00edm \u010dtvrt\u00e9ho m\u011bs\u00edce v\u011bku. Prvn\u00ed projevy b\u00fdvaj\u00ed ve form\u011b l\u00e9z\u00ed pod s\u00edtnic\u00ed, podobn\u00fdch puch\u00fd\u0159k\u016fm. I p\u0159es postupn\u00e9 po\u0161kozov\u00e1n\u00edm s\u00edtnice obvykle doch\u00e1z\u00ed k \u00fapln\u00e9 ztr\u00e1t\u011b zraku a\u017e ve vy\u0161\u0161\u00edm v\u011bku.  <\/p>\n\n\n\n

Protein bestrophin je zodpov\u011bdn\u00fd za spr\u00e1vn\u00e9 sestaven\u00ed pigmentov\u00e9ho epitelu s\u00edtnice. Pokud je nefunk\u010dn\u00ed, zp\u016fsobuje atrofii pigmentov\u00e9ho epitelu s\u00edtnice a vede k v\u00e1\u017en\u00e9mu po\u0161kozen\u00ed centr\u00e1ln\u00edho vid\u011bn\u00ed. D\u011bdi\u010dnost je autosom\u00e1ln\u011b recesivn\u00ed, tzn. \u017ee nemoc se rozvine pouze u jedinc\u016f, kte\u0159\u00ed zd\u011bd\u00ed od obou sv\u00fdch rodi\u010d\u016f mutovan\u00fd gen.<\/p>\n\n\n\n

Neuron\u00e1ln\u00ed Ceroidn\u00ed Lipofuscin\u00f3za (NCL6)<\/strong> <\/p>\n\n\n\n

Neuron\u00e1ln\u00ed ceroidn\u00ed lipofuscin\u00f3za je velmi vz\u00e1cn\u00e9 neurodegenerativn\u00ed onemocn\u011bn\u00ed, charakteristick\u00e9 hromad\u011bn\u00edm odpadn\u00edch l\u00e1tek lipidov\u00e9 povahy v\u202fnervov\u00fdch bu\u0148k\u00e1ch. Konkr\u00e9tn\u011b typ NCL6 byl zaznamen\u00e1n u australsk\u00fdch ov\u010d\u00e1k\u016f. N\u00e1stup onemocn\u011bn\u00ed nast\u00e1v\u00e1 p\u0159ibli\u017en\u011b ve v\u011bku jednoho a p\u016fl roku. Symptomy mohou zahrnovat ztr\u00e1tu zraku, zm\u011bny chov\u00e1n\u00ed (bezd\u016fvodn\u00e9 projevy strachu a \u00fazkosti, nejistota pohybu i ve zn\u00e1m\u00e9m prost\u0159ed\u00ed, dementn\u00ed chov\u00e1n\u00ed, hyperaktivita nebo zu\u0159ivost), zhor\u0161en\u00ed motorick\u00fdch a kognitivn\u00edch schopnost\u00ed, objevuj\u00ed se i z\u00e1chvaty podobn\u00e9 epilepsii. Onemocn\u011bn\u00ed kon\u010d\u00ed p\u0159ed\u010dasnou smrt\u00ed posti\u017een\u00e9ho jedince, obvykle do jednoho roku po objeven\u00ed prvn\u00edch zn\u00e1mek nemoci.  <\/p>\n\n\n\n

Jedn\u00e1 se o autozom\u00e1ln\u011b recesivn\u00ed d\u011bdi\u010dnost a projev\u00ed se tak pouze u jedinc\u016f, kte\u0159\u00ed z\u00edskali mutovan\u00fd gen od obou sv\u00fdch rodi\u010d\u016f. <\/p>\n\n\n\n

Prim\u00e1rn\u00ed cili\u00e1rn\u00ed dyskineze u australsk\u00fdch ov\u010d\u00e1k\u016f (PCD)<\/strong><\/p>\n\n\n\n

Prim\u00e1rn\u00ed cili\u00e1rn\u00ed dyskineze je vz\u00e1cn\u00e9 onemocn\u011bn\u00ed, p\u0159i kter\u00e9m \u0159asinky v d\u00fdchac\u00edch cest\u00e1ch nepln\u00ed zcela svou funkci. Toto respira\u010dn\u00ed onemocn\u011bn\u00ed je charakteristick\u00e9 opakuj\u00edc\u00edmi se z\u00e1n\u011bty horn\u00edch a doln\u00edch d\u00fdchac\u00edch cest, kter\u00e9 vy\u017eaduj\u00ed opakovanou l\u00e9\u010dbu. Klinick\u00e9 p\u0159\u00edznaky se za\u010d\u00ednaj\u00ed objevovat ji\u017e u \u0161t\u011b\u0148at.\u202f <\/p>\n\n\n\n

\u202fD\u011bdi\u010dnost je autozom\u00e1ln\u011b recesivn\u00ed, tzn. \u017ee nemoc se rozvine pouze u jedinc\u016f, kte\u0159\u00ed zd\u011bd\u00ed od obou sv\u00fdch rodi\u010d\u016f mutovan\u00fd gen. <\/p>\n\n\n\n

\"\"
Mikrofotografie \u0159asinek v plic\u00edch. Zdroj: wikipedia, voln\u00e9 d\u00edlo<\/em> <\/figcaption><\/figure>\n\n\n\n

<\/p>\n\n\n\n

Kr\u00e1tkoocasost (Bob-tail, NBT)<\/strong><\/p>\n\n\n\n

Tato mutace p\u0159irozen\u011b p\u0159in\u00e1\u0161\u00ed p\u0159irozenou kr\u00e1tkoocasost (NBT \u2013 Natural Bob tail), tedy zakrn\u011bn\u00ed ocasn\u00edch obratl\u016f. Tato vloha je dominantn\u00ed a v\u017edy se na jedinci projev\u00ed, ale m\u016f\u017ee m\u00edt r\u016fzn\u00e9 d\u00e9lky. Od skoro dlouh\u00fdch, p\u0159es polovi\u010dn\u00ed, \u00bc, a\u017e po \u00fapln\u011b kr\u00e1tk\u00e9. V\u202fjednom vrhu m\u016f\u017ee b\u00fdt cel\u00e1 \u0161k\u00e1la t\u011bchto d\u00e9lek.  <\/p>\n\n\n\n

Kr\u00e1tkoocasost zp\u016fsobuje mutace c.189C>G v\u202fgenu TBXT. Tato mutace byla prok\u00e1z\u00e1na v heterozygotn\u00edm stavu. Homozygotn\u00ed stav je let\u00e1ln\u00ed ji\u017e v embryon\u00e1ln\u00edm st\u00e1diu kv\u016fli z\u00e1va\u017en\u00e9mu roz\u0161t\u011bpu p\u00e1te\u0159e. P\u0159i k\u0159\u00ed\u017een\u00ed dvou heterozygotn\u00edch jedinc\u016f byl prok\u00e1z\u00e1n 30% \u00fabytek \u0161t\u011b\u0148at ve vrhu. <\/p>\n\n\n\n

<\/p>","protected":false},"excerpt":{"rendered":"

Genetick\u00e9 testov\u00e1n\u00ed je u mnoha ps\u00edch plemen \u00fa\u010dinn\u00fdm n\u00e1strojem prevence genetick\u00fdch onemocn\u011bn\u00ed. Rovn\u011b\u017e u australsk\u00e9ho ov\u010d\u00e1ka je mo\u017en\u00e9 vyu\u017e\u00edt genetick\u00e9 testov\u00e1n\u00ed pro zn\u00e1m\u00e9 choroby a znaky u tohoto plemene. Testov\u00e1n\u00ed je doporu\u010deno u psa a fenky p\u0159ed pl\u00e1novan\u00fdm kryt\u00edm. V dal\u0161\u00ed \u010d\u00e1sti \u010dl\u00e1nku najdete popis genetick\u00fdch chorob u australsk\u00e9ho ov\u010d\u00e1ka, kter\u00e9 jsou sou\u010d\u00e1st\u00ed na\u0161eho bal\u00ed\u010dku […]<\/p>\n","protected":false},"author":4,"featured_media":2840,"comment_status":"closed","ping_status":"closed","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-2839","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\/2839","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\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/comments?post=2839"}],"version-history":[{"count":0,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts\/2839\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media\/2840"}],"wp:attachment":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media?parent=2839"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/categories?post=2839"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/tags?post=2839"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}