Low frequency of Y- chromosome microdeletions among infertile men fromthe North-Adriatic region of Croatia

Cilj: Otkrivanje mikrodelecije AZF (azospermia factor) podrucja kromosoma Y u muskaraca s teskim poremecajem spermatogeneze važno je stoga sto se metodama medicinski potpomognute oplodnje mikrodelecije prenesu na 100% muskog potomstva. Metode: Istražili smo prisutnost mikrodelecija kromosoma Y u 129 muskaraca s podrucja Istre i Primorja. Klinicke dijagnoze ispitanika bile su: azoospermija (N=33), teski oblik oligozoospermije (broj spermija manji od 5 milijuna/ml ; N=25), oligozoospermija (N=47) i astenospermija (N=24). Njih 84 imalo je neplodnost nepoznata uzroka, dok su u ostalih utvrđeni jos i hipogonadizam, kriptorhizam ili varikokela. Molekularno-geneticka analiza napravljena pomocu cetiri multipleks i jedne simpleks lancane reakcije polimeraze obuhvatila je 12 STS lokusa-biljega. Analizirani su STS-biljezi: sY84, sY86, sY127, sY134, sY254, sY255, kontrolni biljeg sY14 (SRY) i pseudoautosomski lokus ZFX/ZFY prema preporuci Evropske androloske akademije. U ispitanika u kojih su pronađene mikrodelecije analizirani su dodatni STS-biljezi: sY87, sY88, sY114, sY135, sY152 i sY157 poradi utvrđivanja njihova opsega. Rezultati: Mikrodelecije su pronađene u dva ispitanika (2/129 ili 1, 55%). Obojica su imala klinicku dijagnozu idiopatske azoospermije. Ucestalost mikrodelecija u grupi s azoospermijom iznosi 2/33 ili 6, 06%, a u grupi s idiopatskom azoospermijom 2/18 ili 11, 1%. Mikrodelecije nisu pronađene u ispitanika s ostalim dijagnozama neplodnosti, kao niti u kontrolnoj skupini muskaraca (N=100). U jednoga ispitanika mikrodelecija je zahvatila AZFc potpodrucje, dok se u drugoga proteže kroz AZFb i AZFc potpodrucja. Zakljucak: Ucestalost mikrodelecija kromosoma Y niža je u nasem uzorku ispitanika negoli je objavljeno za vecinu evropskih populacija. Idiopatska azoospermija povezana je s rizikom za pronalazak mikrodelecija AZF podrucja kromosoma Y u nasoj populaciji.

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