20.500.12556/DKUM-97383 Hitro prenatalno določanje številčnosti spolnih kromosomov predstavitev metodologije z verifikacijo postopka Rapid Prenatal Detection of Sex Chromosome Aneuploidies The Methodology and the Verification Kvantitativna fluorescentna verižna reakcija s polimerazo (QF-PCR) je uveljavljena metoda za usmerjeno, hitro, zanesljivo in poceni določanje najpomembnejših kromosomskih anomalij v prenatalni diagnostiki. To so trisomije kromosomov 13, 18 in 21, ki jih v Laboratoriju za medicinsko genetiko UKC Maribor rutinsko določamo od leta 2008 z lastno razvitim testom. Določanje številčnih sprememb kromosomov X in Y je del QF-PCR testa, ko se ta izvaja kot samostojni test. Trenutno veljavne smernice britanskega združenja za klinično citogenetiko priporočajo usmerjeno diagnostiko oz. preiskovanje prenatalnih vzorcev z metodo QF-PCR ob utemeljenem sumu na številčne anomalije spolnih kromosomov. V prispevku predstavljamo metodologijo in verifikacijo določanja številčnih anomalij kromosomov X in Y z uporabo mikrosatelitnih genetskih označevalcev z metodo QF-PCR. Gre za razširitev zmožnosti QF-PCR analize lastnega razvoja, ki vključuje pripravo optimiziranih kombinacij dodatnih devet začetnih oligonukleotidov, specifičnih za kromosoma X in/ali Y za izvajanje hkratne verižne reakcije s polimerazo. Za verifikacijo smo uporabili 23 predhodno citogenetsko opredeljenih vzorcev s prisotnimi različnimi oblikami odstopanj v številu kromosomov X in Y. Predstavljeni so tudi rezultati verifikacije metode, ki je pokazala 100% ujemanje rezultatov. Quantitative fluorescent polymerase chain reaction (QF-PCR) is an established method for targeted, fast, reliable, and economically beneficial determination of common chromosomal abnormalities in prenatal diagnosis. The most common chromosomal abnormalities in prenatal genetics are trisomies of chromosomes 13, 18 and 21. In Laboratory of Medical Genetics, University Medical Centre Maribor, we use in-house developed QF-PCR testing for detecting them since 2008. Determination of the numerical changes in sex chromosomes X and Y is part of QF-PCR testing, when it is implemented as a separate test. The current guidelines of the British Association for Clinical Cytogenetics are recommending the use of QF-PCR testing for sex chromosomes only as targeted diagnostics at cases with reasonable suspicion of numerical abnormalities on sex chromosomes. In this paper we present QF-PCR methodology by using 9 additional sex chromosomes microsatellite genetic markers. It is based on the extension of in-house developed QF-PCR analysis, which involves the preparation of optimized combinations of primers, specific for the chromosome X and/or Y in order to carry out the optimal system for simultaneous polymerase chain reaction. For the validation analysis we used 23 cytogenetic well-defined patterns with the presence of different types of numerical variations of chromosomes X and Y. The results of the validation analysis are presented, the 100% matching was achieved. prenatalna diagnostika humana genetika številčne kromosomske spremembe spolni kromosomi kvantitativna fluorescentna verižna reakcija s polimerazo QF-PCR Quantitative fluorescent polymerase chain reaction (QF-PCR) is an established method for targeted fast reliable and economically beneficial determination of common chromosomal abnormalities in prenatal diagnosis. The most common chromosomal abnormalities in prenatal genetics are trisomies of chromosomes 13 18 and 21. In Laboratory of Medical Genetics University Medical Centre Maribor we use in-house developed QF-PCR testing for detecting them since 2008. Determination of the numerical changes in sex chromosomes X and Y is part of QF-PCR testing when it is implemented as a separate test. The current guidelines of the British Association for Clinical Cytogenetics are recommending the use of QF-PCR testing for sex chromosomes only as targeted diagnostics at cases with reasonable suspicion of numerical abnormalities on sex chromosomes. In this paper we present QF-PCR methodology by using 9 additional sex chromosomes microsatellite genetic markers. It is based on the extension of in-house developed QF-PCR analysis which involves the preparation of optimized combinations of primers specific for the chromosome X and/or Y in order to carry out the optimal system for simultaneous polymerase chain reaction. For the validation analysis we used 23 cytogenetic well-defined patterns with the presence of different types of numerical variations of chromosomes X and Y. The results of the validation analysis are presented the 100% matching was achieved. true false true Univerza v Mariboru, Univerzitetna založba Slovenski jezik Angleški jezik Znanstveno delo 2026-03-03 08:18:14 2026-03-03 08:18:21 2026-04-09 15:59:32 0000-00-00 00:00:00 2013 0 Maribor 0 9 št.2 Letn.3 2013 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 2013-01-01 575 4938559 10.18690/analipazu.3.2.95-103.2013 2820-364X RAZ_Erjavec_Skerget_Alenka_2013.pdf RAZ_Erjavec_Skerget_Alenka_2013.pdf 1 94F89F37EC86811073A1A7FF4DE40F4E 37f7b60b33f784aa29ec7bc4572297a3e749ce1db47e40bdf3429c73a73f301b e5c2ee2b-16d1-11f1-9bb8-00155d580e1a https://dk.um.si/Dokument.php?lang=slv&id=204181 https://journals.um.si/index.php/anali-pazu/article/view/1963 0 c3446477-16d1-11f1-9bb8-00155d580e1a https://dk.um.si/Dokument.php?lang=slv&id=204179 Univerzitetna založba Univerze v Mariboru Anali PAZU 0 0 0