{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:27:41Z","timestamp":1759336061142,"version":"build-2065373602"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:p>Bevezet\u00e9s\nA spinalis muscularis atrophia (SMA) ritka, autoszom\u00e1lis recessz\u00edv \u00f6r\u00f6kl\u0151d\u00e9s\u0171 neuromusularis betegs\u00e9g, ami 10 000 \u00e9lvesz\u00fcl\u00e9sb\u0151l k\u00f6r\u00fclbel\u00fcl egyet \u00e9rint. Az izomsorvad\u00e1st az \u03b1-motoneuronok fokozatos pusztul\u00e1sa okozza a ventralis gerincvel\u0151ben vagy az agyt\u00f6rzs als\u00f3 motoros magjaiban. Jelen vizsg\u00e1latunk c\u00e9lja az SMA-t okoz\u00f3 SMN1 g\u00e9nmut\u00e1ci\u00f3 hordoz\u00f3i gyakoris\u00e1g\u00e1nak felm\u00e9r\u00e9se a ciprusi t\u00f6r\u00f6k popul\u00e1ci\u00f3ban.\n\nM\u00f3dszerek\nEz az els\u0151 tanulm\u00e1ny, ami ebben a popul\u00e1ci\u00f3ban az SMN1 g\u00e9n deleti\u00f3s mut\u00e1ci\u00f3it \u00e9rt\u00e9keli. A g\u00e9n 7-es \u00e9s 8-as exonjaiban el\u0151fordul\u00f3 deleti\u00f3kat, valamint a 7-es exonban tal\u00e1lhat\u00f3 c.849C\/T szubsztit\u00faci\u00f3t val\u00f3s idej\u0171 kvantitat\u00edv PCR (RT-qPCR) m\u00f3dszerrel detekt\u00e1ltuk.\n\nEredm\u00e9nyek\nA vizsg\u00e1latban szerepl\u0151 100 egy\u00e9n k\u00f6z\u00fcl h\u00e1rom betegn\u00e9l az SMN1 g\u00e9n patog\u00e9n vari\u00e1nsa mind a 7-es, mind a 8-as exonban kimutathat\u00f3 volt (1-es t\u00edpus\u00fa hordoz\u00f3 st\u00e1tusz). Egy m\u00e1sik betegn\u00e9l kiz\u00e1r\u00f3lag a 7-es exonban igazol\u00f3dott hordoz\u00f3i \u00e1llapot (2-es t\u00edpus\u00fa hordoz\u00f3 st\u00e1tusz). Eredm\u00e9nyeink alapj\u00e1n az SMN1 g\u00e9n 7-es exonj\u00e1ban a mut\u00e1ci\u00f3hordoz\u00f3i gyakoris\u00e1g 4% (4\/100 eg\u00e9szs\u00e9ges egy\u00e9n), m\u00edg a 8-as exon eset\u00e9ben 3% (3\/100 eg\u00e9szs\u00e9ges egy\u00e9n). K\u00f6vetkeztet\u00e9sk\u00e9ppen, az SMN1 g\u00e9n deleti\u00f3j\u00e1hoz kapcsol\u00f3d\u00f3 SMA magas gyakoris\u00e1ga miatt eg\u00e9szs\u00e9g\u00fcgyi \u00f3vint\u00e9zked\u00e9sekre van sz\u00fcks\u00e9g.\n\nK\u00f6vetkeztet\u00e9s\nA hordoz\u00f3k sz\u0171r\u00e9se genetikai tan\u00e1csad\u00e1s r\u00e9szek\u00e9nt hasznos lehet azok sz\u00e1m\u00e1ra, akiknek a csal\u00e1dj\u00e1ban el\u0151fordult a betegs\u00e9g, de \u00e9rt\u00e9kes vizsg\u00e1lati m\u00f3dszer lehet olyan t\u00e1rsadalomban is, ahol magas az SMA el\u0151fordul\u00e1si gyakoris\u00e1ga. Ebben a popul\u00e1ci\u00f3ban kifejezetten javasoljuk a praenatalis sz\u0171r\u00e9st. Eredm\u00e9nyeinket tov\u00e1bb\u00edtottuk az Eg\u00e9szs\u00e9g\u00fcgyi Miniszt\u00e9riumnak, ami d\u00f6nt\u00e9st fog hozni arr\u00f3l, hogy a h\u00e1zass\u00e1gk\u00f6t\u00e9s el\u0151tti vizsg\u00e1latok k\u00f6z\u00e9 bevezess\u00e9k-e az SMN1 g\u00e9nvari\u00e1ns sz\u0171r\u00e9s\u00e9t.<\/jats:p>","DOI":"10.18071\/isz.78.0349","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:06Z","timestamp":1759309086000},"page":"349-355","source":"Crossref","is-referenced-by-count":0,"title":["Az SMA-hordoz\u00f3i gyakoris\u00e1g az SMN1-deletio kvantitat\u00edv elemz\u00e9s\u00e9vel az \u00e9szak-ciprusi popul\u00e1ci\u00f3ban"],"prefix":"10.18071","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8195-5967","authenticated-orcid":false,"given":"Sara","family":"Abbasigharaei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4319-9032","authenticated-orcid":false,"given":"Aysegul","family":"Bostanci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4461-5856","authenticated-orcid":false,"given":"Kiana","family":"Tabari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9593-9325","authenticated-orcid":false,"given":"Mahmut Cerkez","family":"Ergoren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7411","published-online":{"date-parts":[[2025]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/carrier-frequency-of-sma-by-quantitative-analysis-of-the-smn1-deletion-in-the-northern-cyprus-population\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:07Z","timestamp":1759309087000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/carrier-frequency-of-sma-by-quantitative-analysis-of-the-smn1-deletion-in-the-northern-cyprus-population"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2025]]},"published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.78.0349","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}