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Scientific paper - Original scientific paper
Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)
Medicina Fluminensis : Medicina Fluminensis, 44 (2008), 3-4; 256-266. urn:nbn:hr:184:039594
Buretić-Tomljanović, Alena; Vlastelić, Ivan; Marić, Natalia; Nadalin, Sergej; Radojčić Badovinac, Anđelka

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Buretić Tomljanović, A., Vlastelić, I., Marić, N., Nadalin, S. & Radojčić Badovinac, A. (2008). Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja). Medicina Fluminensis : Medicina Fluminensis, 44. (3-4), 256-266. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:039594

Buretić Tomljanović, Alena, et al. "Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)." Medicina Fluminensis : Medicina Fluminensis, vol. 44, no. 3-4, 2008, pp. 256-266. https://urn.nsk.hr/urn:nbn:hr:184:039594

Buretić Tomljanović, Alena, Ivan Vlastelić, Natalia Marić, Sergej Nadalin and Anđelka Radojčić Badovinac. "Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)." Medicina Fluminensis : Medicina Fluminensis 44, no. 3-4 (2008): 256-266. https://urn.nsk.hr/urn:nbn:hr:184:039594

Buretić Tomljanović, A., et al. (2008) 'Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)', Medicina Fluminensis : Medicina Fluminensis, 44(3-4), pp. 256-266. Available at: https://urn.nsk.hr/urn:nbn:hr:184:039594 (Accessed 11 December 2024)

Buretić Tomljanović A, Vlastelić I, Marić N, Nadalin S, Radojčić Badovinac A. Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja). Medicina Fluminensis : Medicina Fluminensis [Internet]. 2008 December 01 [cited 2024 December 11];44(3-4):256-266. Available at: https://urn.nsk.hr/urn:nbn:hr:184:039594

A. Buretić Tomljanović, I. Vlastelić, N. Marić, S. Nadalin and A. Radojčić Badovinac, "Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)", Medicina Fluminensis : Medicina Fluminensis, vol. 44, no. 3-4, pp. 256-266, December 2008. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:039594. [Accessed: 11 December 2024]

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Title (croatian)Niska učestalost mikrodelecija AZF područja kromosoma Y u neplodnih muškaraca sjeverozapadne Hrvatske (Istre i Primorja)
Title (english)Low frequency of Y- chromosome microdeletions among infertile men from the North-Adriatic region of Croatia
AuthorAlena Buretić-Tomljanović
AuthorIvan Vlastelić
AuthorNatalia Marić
AuthorSergej Nadalin
AuthorAnđelka Radojčić Badovinac
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
Cilj: Otkrivanje mikrodelecije AZF (engl. azoospermia factor) područja kromosoma Y u muškaraca s teškim poremećajem spermatogeneze važno je zato što se metodama medicinski potpomognute oplodnje mikrodelecije prenesu na 100% muškog potomstva. Ispitanici i metode: Istražili smo prisutnost mikrodelecija Y kromosoma u 129 muškaraca s područja Istre i Primorja. Kliničke dijagnoze ispitanika bile su: azoospermija (N=33), teški oblik oligozoospermije (broj spermija manji od 5 milijuna/ml; N=25), oligozoospermija (N=47) i astenospermija (N=24). Neplodnost nepoznata uzroka imala su 84 ispitanika, dok su u ostalih utvrđeni još i hipogonadizam, kriptorhizam ili varikokela. Molekularno-genetička analiza napravljena pomoću četiri multipleks i jedne simpleks lančane 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 Europske androloške akademije. U ispitanika u kojih su pronađene mikrodelecije analizirani su dodatni STS-biljezi: sY87, sY88, sY114, sY135, sY152 i sY157 radi utvrđivanja njihova opsega. Rezultati: Mikrodelecije su pronađene u dva ispitanika (2/129 ili 1,55%). Obojica su imala kliničku dijagnozu idiopatske azoospermije. Učestalost 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 muškaraca (N=100). U jednog ispitanika mikrodelecija je zahvatila AZFc potpodručje, dok se u drugoga proteže kroz AZFb i AZFc potpodručja. Zaključak: Učestalost mikrodelecija Y kromosoma niža je u našem uzorku ispitanika nego što je objavljeno za većinu europske populacije. U našoj populaciji pronalazak mikrodelecija AZF područja kromosoma Y povezan je s idiopatskom azoospermijom.
Abstract (english)
Aim: The detection of microdeletions of AZF (azoospermia factor) region of Y-chromosome in men with severely impaired spermatogenesis is important since Y-chromosome microdeletions are transmitted to 100% of male offspring when using assisted reproduction methods. Subjects and methods: We investigated the presence of chromosome-Y microdeletions in 129 men from North-Adriatic region of Croatia. Their clinical diagnoses were: azoospermia (N=33), severe oligozoospermia (sperm count less than 5 million/ml; N=25), oligozoospermia (N=47), and asthenospermia (N=24). Eighty four of them had idiopathic infertility, while the rest of them were also diagnosed with hypogonadism, cryptorchidism or varicocele. Molecular-genetic analysis was performed using four multiplex and one simplex polymerase chain reaction (PCR). Twelve STS-markers were investigated. STS-markers: sY84, sY86, sY127, sY134, sY254, sY255, control marker sY14 (SRY), and control pseudoautosomal locus ZFX/ZFY were analyzed according to recommendation of European Academy of Andrology. In cases of detected microdeletion six additional markers were analyzed: sY87, sY88, sY114, sY135, sY152, and sY157. Results: Microdeletions were found in two men (2/129 or 1,55%). Both men were diagnosed with idiopathic azoospermia; therefore the frequency of microdeletions in the azoospermia group was 2/33 or 6,06%, while in the idiopathic azoospermia group was 2/18 or 11,1%. Chromosome Y microdeletions were not found in non-idiopathic infertility group nor control men (N=100). Conclusions: The frequency of microdeletions was lower in our sample than reported for many European populations. Idiopathic azoospermia carries the risk for diagnosis of Y- chromosome microdeletions in our population.
Keywords (croatian)
Keywords (english)
Languagecroatian
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 44, no. 3-4, pp. 256-266
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:039594
Publication2008-12-01
Document URLhttp://hrcak.srce.hr/31396
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-05-02 13:09:41