{"id":2500,"date":"2021-05-13T13:44:00","date_gmt":"2021-05-13T13:44:00","guid":{"rendered":"https:\/\/dnaera.com\/ro\/?p=2500"},"modified":"2023-04-17T09:21:59","modified_gmt":"2023-04-17T07:21:59","slug":"vplyv-vasich-genov-na-zdravie-vasich-deti-a-co-znamena-status-prenasaca-v-nasom-dna-teste","status":"publish","type":"post","link":"https:\/\/dnaera.com\/ro\/blog\/vplyv-vasich-genov-na-zdravie-vasich-deti-a-co-znamena-status-prenasaca-v-nasom-dna-teste\/","title":{"rendered":"Vplyv va\u0161ich g\u00e9nov na zdravie va\u0161ich det\u00ed a \u010do znamen\u00e1 \u201cstatus pren\u00e1\u0161a\u010da\u201d v na\u0161om DNA teste"},"content":{"rendered":"\n

V\u010faka poznaniu vlastn\u00fdch genetick\u00fdch predispoz\u00edci\u00ed dok\u00e1\u017eeme ovplyvni\u0165 svoje zdravie\u00a0a t\u00fdm aj zlep\u0161i\u0165 kvalitu vlastn\u00e9ho \u017eivota. Existuj\u00fa v\u0161ak genetick\u00e9 predispoz\u00edcie, ktor\u00e9 nemusia ma\u0165 vplyv na na\u0161e vlastn\u00e9 zdravie, ale v ur\u010ditej situ\u00e1cii m\u00f4\u017eu ovplyvni\u0165 zdravie na\u0161ich potomkov.\u00a0<\/em><\/p>\n\n\n\n

Pre lep\u0161ie pochopenie je potrebn\u00e9 za\u010da\u0165 stru\u010dn\u00fdm vysvetlen\u00edm niektor\u00fdch biologick\u00fdch faktov o na\u0161om tele. Vo v\u00e4\u010d\u0161ine na\u0161ich buniek sa nach\u00e1dza DNA vo forme chromoz\u00f3mov, ktor\u00fdch je 23 p\u00e1rov. Z ka\u017ed\u00e9ho p\u00e1ru sme jeden chromoz\u00f3m zdedili od svojho otca a jeden od svojej matky. Prv\u00fdch 22 p\u00e1rov chromoz\u00f3mov sa ded\u00ed nez\u00e1visle od pohlavia, a preto ich ozna\u010dujeme ako tzv. autoz\u00f3my. Posledn\u00fd, 23. p\u00e1r chromoz\u00f3mov, ur\u010duje na\u0161e pohlavie, a preto chromoz\u00f3my v tomto p\u00e1re (X a Y) ozna\u010dujeme ako tzv. gonoz\u00f3my.<\/p>\n\n\n\n

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

Na t\u00fdchto chromoz\u00f3moch je u \u010dloveka r\u00f4zne rozmiestnen\u00fdch pribli\u017ene 20 000 g\u00e9nov v dvoch verzi\u00e1ch \u2013 tzv. alel\u00e1ch (1 alela sa nach\u00e1dza na jednom chromoz\u00f3me z p\u00e1ru, 2 alela sa nach\u00e1dza na druhom chromoz\u00f3me z p\u00e1ru). G\u00e9nom v jednoduchosti ozna\u010dujeme \u00fasek DNA, ktor\u00fd k\u00f3duje v\u00fdsledn\u00fd produkt, vo v\u00e4\u010d\u0161ine pr\u00edpadov prote\u00edn. Tieto prote\u00edny u\u017e n\u00e1sledne vykon\u00e1vaj\u00fa mnoh\u00e9, aj \u017eivotne d\u00f4le\u017eit\u00e9 funkcie v na\u0161om tele. Nedostatok funk\u010dn\u00e9ho prote\u00ednu m\u00f4\u017ee vies\u0165 a\u017e ku konkr\u00e9tnym ochoreniam, o ktor\u00fdch si nie\u010do povieme v nasleduj\u00facej \u010dasti.<\/p>\n\n\n\n

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

Vo svojej genetickej v\u00fdbave si m\u00f4\u017eeme nies\u0165 tak\u00e9 predispoz\u00edcie, ktor\u00e9 neved\u00fa k ochoreniu u n\u00e1s, ale za ur\u010dit\u00fdch okolnost\u00ed m\u00f4\u017eu vies\u0165 k ochoreniu u na\u0161ich potomkov. Pr\u00e1ve preto ozna\u010dujeme tak\u00e9hoto jedinca ako \u201epren\u00e1\u0161a\u010da\u201c a kateg\u00f3riu ochoren\u00ed, ktor\u00e9 sa dedia pod\u013ea tohto vzoru, ozna\u010dujeme ako \u201estatus pren\u00e1\u0161a\u010da\u201c, v angli\u010dtine \u201ccarrier status\u201d.  <\/p>\n\n\n\n

Do kateg\u00f3rie \u201estatus pren\u00e1\u0161a\u010da\u201c zara\u010fujeme viacero ochoren\u00ed, napr\u00edklad cystick\u00fa fibr\u00f3zu, \u010di fenylketon\u00fariu. Ochorenia v tejto kateg\u00f3rii sa dedia pod\u013ea tzv. reces\u00edvneho vzoru. To znamen\u00e1, \u017ee na prejav ochorenia je potrebn\u00e9 po\u0161kodenie obidvoch verzi\u00ed g\u00e9nu, ktor\u00fd s\u00favis\u00ed s dan\u00fdm ochoren\u00edm. Pokia\u013e tento g\u00e9n le\u017e\u00ed na jednom z prv\u00fdch 22 p\u00e1rov chromoz\u00f3mov, potom hovor\u00edme o tzv. autozom\u00e1lne reces\u00edvnej dedi\u010dnosti. Pokia\u013e le\u017e\u00ed na niektorom z pohlavn\u00fdch chromoz\u00f3mov v poslednom 23. p\u00e1re, potom hovor\u00edme o tzv. gonozom\u00e1lne reces\u00edvnej dedi\u010dnosti. Pre jednoduchos\u0165 sa budeme \u010falej rozpr\u00e1va\u0165 iba o dedi\u010dnosti nez\u00e1vislej od pohlavia, to znamen\u00e1 o autozom\u00e1lne reces\u00edvnej dedi\u010dnosti. <\/p>\n\n\n\n

Pri ochoreniach s autozom\u00e1lne reces\u00edvnou dedi\u010dnos\u0165ou ozna\u010dujeme pren\u00e1\u0161a\u010dom jednotlivca, ktor\u00fd nesie po\u0161koden\u00fa iba jednu verziu g\u00e9nu s\u00favisiaceho s dan\u00fdm ochoren\u00edm, av\u0161ak druh\u00fa m\u00e1 v poriadku. Ke\u010f\u017ee plat\u00ed, \u017ee za \u0161tandardn\u00fdch okolnost\u00ed pos\u00favame na svojich potomkov len jeden chromoz\u00f3m z p\u00e1ru, \u0161anca, \u017ee die\u0165a od pren\u00e1\u0161a\u010da zded\u00ed pr\u00e1ve po\u0161koden\u00fa verziu g\u00e9nu, je 50 %. Druh\u00fd chromoz\u00f3m z p\u00e1ru zded\u00ed die\u0165a od druh\u00e9ho rodi\u010da a pokia\u013e ten nie je pren\u00e1\u0161a\u010dom dan\u00e9ho ochorenia, je len ve\u013emi mal\u00e1 pravdepodobnos\u0165, \u017ee die\u0165a bude postihnut\u00e9 dan\u00fdm ochoren\u00edm. Pokia\u013e je v\u0161ak aj druh\u00fd rodi\u010d pren\u00e1\u0161a\u010dom dan\u00e9ho ochorenia, \u0161anca, \u017ee die\u0165a zded\u00ed aj od neho po\u0161koden\u00fa verziu dan\u00e9ho g\u00e9nu, je 25 % (50 % pravdepodobnos\u0165 od jedn\u00e9ho rodi\u010da a z\u00e1rove\u0148 50 % pravdepodobnos\u0165 od druh\u00e9ho rodi\u010da d\u00e1va spolu 25 % pravdepodobnos\u0165, \u017ee die\u0165a zded\u00ed po\u0161koden\u00fa verziu od oboch rodi\u010dov).<\/p>\n\n\n\n

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

Z toho vypl\u00fdva, \u017ee pokia\u013e sa stretn\u00fa dvaja rodi\u010dia, ktor\u00ed s\u00fa pren\u00e1\u0161a\u010dmi nejak\u00e9ho ochorenia, potom maj\u00fa 25 % pravdepodobnos\u0165, \u017ee sa im narod\u00ed zdrav\u00e9 die\u0165a, 50 % pravdepodobnos\u0165, \u017ee sa im narod\u00ed die\u0165a, ktor\u00e9 bude pren\u00e1\u0161a\u010dom tohto ochorenia a 25 % pravdepodobnos\u0165, \u017ee sa im narod\u00ed die\u0165a postihnut\u00e9 tak\u00fdmto ochoren\u00edm.<\/p>\n\n\n\n

Jedn\u00fdm z ochoren\u00ed, ktor\u00e9 sa dedia pod\u013ea autozom\u00e1lne reces\u00edvneho vzoru, je cystick\u00e1 fibr\u00f3za. Cystick\u00e1 fibr\u00f3za je dedi\u010dn\u00e9 ochorenie, ktor\u00e9 sp\u00f4sobuje v\u00e1\u017ene po\u0161kodenie p\u013e\u00fac, tr\u00e1viaceho syst\u00e9mu, ale aj in\u00fdch org\u00e1nov v na\u0161om tele. Toto ochorenie je charakteristick\u00e9 tvorbou hust\u00e9ho a\u017e lepkav\u00e9ho hlienu, ktor\u00fd je zodpovedn\u00fd za po\u0161kodenie org\u00e1nov. Cystick\u00e1 fibr\u00f3za je sp\u00f4soben\u00e1 mut\u00e1ciou v g\u00e9ne CFTR, ktor\u00fd le\u017e\u00ed na 7. chromoz\u00f3me. Tento g\u00e9n k\u00f3duje prote\u00edn, ktor\u00fd sl\u00fa\u017ei ako kan\u00e1l pre negat\u00edvne nabit\u00e9 \u010dastice medzi membr\u00e1nami buniek a ich okol\u00edm. Tento kan\u00e1l je k\u013e\u00fa\u010dov\u00fd pri prenose vody a tvorbe zdravej vrstvy hlienu. Niektor\u00e9 mut\u00e1cie v tomto g\u00e9ne m\u00f4\u017eu sp\u00f4sobi\u0165 to, \u017ee sa tento kan\u00e1l bu\u010f v\u00f4bec netvor\u00ed, alebo ak sa aj tvor\u00ed, tak je nefunk\u010dn\u00fd. To vedie k nespr\u00e1vnej regul\u00e1cii transportu vody a produkcii pr\u00edli\u0161 hust\u00e9ho hlienu.<\/p>\n\n\n\n

\u010eal\u0161\u00edm pr\u00edkladom je ochorenie fenylketon\u00faria, \u010do je naj\u010dastej\u0161ia vroden\u00e1 porucha metabolizmu aminokysel\u00edn. Toto ochorenie je sp\u00f4soben\u00e9 nedostatkom enz\u00fdmu naz\u00fdvan\u00e9ho ako fenylalan\u00ednhydroxyl\u00e1za, ktor\u00fd sa podie\u013ea na premene aminokyseliny fenylalan\u00edn na aminokyselinu tyroz\u00edn.<\/p>\n\n\n\n

Fenylalan\u00edn be\u017ene prij\u00edmame v potrave ako s\u00fa\u010das\u0165 bielkov\u00edn a v pr\u00edpade, \u017ee ho na\u0161e telo nie je schopn\u00e9 metabolizova\u0165, za\u010dne sa hromadi\u0165 v krvi a v in\u00fdch telov\u00fdch tekutin\u00e1ch. Vysok\u00e1 koncentr\u00e1cia fenylalan\u00ednu je toxick\u00e1 hlavne pre nervov\u00fd syst\u00e9m, a preto m\u00f4\u017ee vies\u0165 napr\u00edklad k ment\u00e1lnej retard\u00e1cii, \u010di motorick\u00fdm probl\u00e9mom.<\/p>\n\n\n\n

Striktn\u00e1 di\u00e9ta je v s\u00fa\u010dasnosti jedinou mo\u017enou kompenz\u00e1ciou tohto ochorenia a \u013eudia, ktor\u00ed ju dodr\u017eiavaj\u00fa od narodenia, nevykazuj\u00fa po\u010das \u017eivota \u017eiadne sympt\u00f3my. Fenylketon\u00faria je sp\u00f4soben\u00e1 mut\u00e1ciou v g\u00e9ne PAH, ktor\u00fd sa nach\u00e1dza na 12. chromoz\u00f3me. Tento g\u00e9n k\u00f3duje u\u017e vy\u0161\u0161ie spomenut\u00fd enz\u00fdm fenylalan\u00ednhydroxyl\u00e1zu, ktor\u00fd je zodpovedn\u00fd za metabolizmus fenylalan\u00ednu. Niektor\u00e9 mut\u00e1cie v tomto g\u00e9ne m\u00f4\u017eu sp\u00f4sobova\u0165 nedostatok funk\u010dn\u00e9ho enz\u00fdmu, \u010do m\u00f4\u017ee vies\u0165 a\u017e k fenylketon\u00farii.<\/p>\n\n\n\n

Sekcia \u201cstatus pren\u00e1\u0161a\u010da\u201d je obsiahnut\u00e1 vo v\u00fdslednej anal\u00fdze DNA Health a DNA Complex testu. Porovnanie a obsah jednotliv\u00fdch testov od DNA ERA n\u00e1jdete na tejto str\u00e1nke. <\/a><\/p>\n\n\n\n

Zdroje<\/strong><\/p>\n\n\n\n

  1. Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S., Davies, J. C., … & Ratjen, F. (2020). The future of cystic fibrosis care: a global perspective. The Lancet Respiratory Medicine<\/em>, 8<\/em>(1), 65-124.<\/li>
  2. Blau, N., Van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. The Lancet<\/em>, 376<\/em>(9750), 1417-1427.<\/li>
  3. van Spronsen, F. J., van Wegberg, A. M., Ahring, K., B\u00e9langer-Quintana, A., Blau, N., Bosch, A. M., … & MacDonald, A. (2017). Key European guidelines for the diagnosis and management of patients with phenylketonuria. The lancet Diabetes & endocrinology<\/em>, 5<\/em>(9), 743-756.<\/li>
  4. https:\/\/www.ncbi.nlm.nih.gov\/gene\/1080<\/a><\/li>
  5. https:\/\/www.ncbi.nlm.nih.gov\/gene\/5053<\/a><\/li>
  6. https:\/\/commons.wikimedia.org\/wiki\/File:Human_karyogram.svg<\/a><\/li>
  7. https:\/\/www.pngitem.com\/middle\/hRoTRhb_transparent-chromosome-clipart-chromosomes-and-genes-hd-png\/<\/a><\/li>
  8. https:\/\/www.pngfind.com\/mpng\/hxJwwoJ_recessive-01-recessive-genes-hd-png-download<\/a><\/li><\/ol>\n\n\n\n

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

    Zdroje fotografi\u00ed<\/strong><\/p>\n\n\n\n

    1. https:\/\/www.freepik.com\/photos\/family’>Family photo created by rawpixel.com – www.freepik.com<\/a><\/li><\/ol>\n\n\n\n

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

      V\u010faka poznaniu vlastn\u00fdch genetick\u00fdch predispoz\u00edci\u00ed dok\u00e1\u017eeme ovplyvni\u0165 svoje zdravie\u00a0a t\u00fdm aj zlep\u0161i\u0165 kvalitu vlastn\u00e9ho \u017eivota. Existuj\u00fa v\u0161ak genetick\u00e9 predispoz\u00edcie, ktor\u00e9 nemusia ma\u0165 vplyv na na\u0161e vlastn\u00e9 zdravie, ale v ur\u010ditej situ\u00e1cii m\u00f4\u017eu ovplyvni\u0165 zdravie na\u0161ich potomkov.\u00a0 Pre lep\u0161ie pochopenie je potrebn\u00e9 za\u010da\u0165 stru\u010dn\u00fdm vysvetlen\u00edm niektor\u00fdch biologick\u00fdch faktov o na\u0161om tele. Vo v\u00e4\u010d\u0161ine na\u0161ich buniek sa […]<\/p>\n","protected":false},"author":1,"featured_media":2501,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59,60],"place-taxonomy":[],"class_list":["post-2500","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test","tag-genetika"],"acf":[],"views":2867,"_links":{"self":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/2500","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/comments?post=2500"}],"version-history":[{"count":2,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/2500\/revisions"}],"predecessor-version":[{"id":1352427,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/2500\/revisions\/1352427"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media\/2501"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media?parent=2500"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/categories?post=2500"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/tags?post=2500"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/place-taxonomy?post=2500"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}