/ VARIJACIJE U BROJU KOPIJA NA HROMOZOMU 15 DETEKTOVANE MOLEKULARNOM KARIOTIPIZACIJOM KOD PACIJENATA SA RAZVOJNIM KAŠNJENJEM I UROĐENIM ANOMALIJAMA

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  • Branko Beronja Medicinski fakultet Univerziteta u Beogradu - student
  • Ana Đuranović
DOI: https://doi.org/10.5937/mp74-38783
Ključne reči: varijacije u broju kopija, molekularna kariotipizacija, hromozom 15, razvojno kašnjenje

Sažetak


Uvod: Globalno razvojno kašnjenje (GKR) i urođene anomalije predstavljaju heterogenu grupu medicinskih stanja koja mogu imati poznatu genetičku etiologiju. Molekularna kariotipizacija je metoda izbora za detekciju varijacija u broju kopija (eng. copy number variation, CNV) i predstavlja test prve linije kod pacijenata sa GKR i urođenim anomalijama, sa prosečnim dijagnostičkim doprinosom od 15-20%. Hromozom 15 (H15) je jedan od hromozoma na kome se CNV najčešće javljaju.

Cilj: rada je da analiziramo sve detektovane ne-polimorfne (značajne) CNV sa H15 na uzorku pacijenata sa GKR i/ili urođenim anomalijama, procenimo njihov udeo u ukupnoj stopi detekcije CNV različitih klasa patogenosti i prikažemo nekoliko ilustrativnih slučajeva.

Materijal i metode: Na ukupnom uzorku od 350 pacijenata koji su analizirani tehnikom molekularne kariotipizacije izdvojena su 92 sa detektovanim značajnim CNV. Nakon toga su analizirani svi pacijenti sa varijantama na H15 koje su dalje klasifikovane prema tipu, veličini i kliničkom značaju.

Rezultati: Kod 11 pacijenata je detektovana bar jedna značajna CNV na hromozomu 15, što čini 3,15% od ukupnog uzorka i 11,96%. na uzorku pacijenata koji su imali značajnu CNV bilo koje lokalizacije. Kod 72,7% ispitanika CNV je opisana kao patogena ili verovatno patogena (klinički značajna, kzCNV), a kod 27,3% kao varijanta nepoznatog značaja. U ukupnoj stopi detekcije kzCNV sa svih hromozoma (15,4%) udeo varijacija sa H15 je iznosio 17,2% .

Zaključak: Udeo kzCNV na hromozomu 15 u ukupnom dijagnostičkom doprinosu molekularne kariotipizacije kod pacijenata sa razvojnim kašnjenjem i kongenitalnim anomalijama iznosi 17,2%, što potvrđuje njihov značajan udeo u etiologiji ovih poremećaja.

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Objavljeno
2024/02/22
Broj časopisa
Vol. 74 Br. 5 (2023): Medicinski podmladak
Rubrika
Originalni naučni članak