{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:30:02Z","timestamp":1790116202222,"version":"4.0.1"},"reference-count":0,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T00:00:00Z","timestamp":1228089600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing"],"published-print":{"date-parts":[[2008,12,1]]},"abstract":"\n The most common genetic causes of spermatogenic failure are sex chromosomal abnormalities (most frequently Klinefelter's syndrome) and deletions of the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) of the Y chromosome. Several studies have proposed that partial AZFc deletions\/duplications may be a risk factor for spermatogenic impairment. We describe a multiplex quantitative fluorescent-polymerase chain reaction (QF-PCR) method that allows simultaneous detection of these genetic causes and risk factors of male infertility. The 11-plex QF-PCR permitted the amplification of the amelogenin gene, four polymorphic X-specific short tandem repeat (STR) markers (XHPRT, DXS6803, DXS981, and exon 1 of the androgen receptor gene), nonpolymorphic Y-specific marker (\n SRY<\/jats:italic>\n gene), polymorphic Y-specific STR marker (DYS448), and coamplification of\n DAZ<\/jats:italic>\n \/\n DAZL<\/jats:italic>\n ,\n MYPT2Y<\/jats:italic>\n \/\n MYPT2<\/jats:italic>\n , and two\n CDY2<\/jats:italic>\n \/\n CDY1<\/jats:italic>\n fragments that allow for determination of the\n DAZ<\/jats:italic>\n ,\n MYPT2Y<\/jats:italic>\n , and\n CDY<\/jats:italic>\n gene copy number. A total of 357 DNA samples from infertile\/subfertile men (\n n<\/jats:italic>\n \u2009=\u2009205) and fertile controls (\n n<\/jats:italic>\n \u2009=\u2009152) was studied. We detected 14 infertile males with sex chromosome aneuploidy (10 with Klinefelter's syndrome, 2 XX, and 2 XYY males). All previously detected AZF deletions, that is, AZFc (n8), AZFb (n1), AZFb\u2009+\u2009c (n1), gr\/gr (n11), gr\/gr with b2\/b4 duplication (n3), and b2\/b3 (n5), gave a specific pattern with the 11-plex QF-PCR. In addition, 32 DNA samples showed a pattern consistent with presence of gr\/gr or b2\/b4 and 4 with b2\/b3 duplication. We conclude that multiplex QF-PCR is a rapid, simple, reliable, and inexpensive method that can be used as a first-step genetic analysis in infertile\/subfertile patients.\n <\/jats:p>","DOI":"10.1089\/gte.2008.0068","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T09:06:08Z","timestamp":1229331968000},"page":"595-605","source":"Crossref","is-referenced-by-count":24,"title":["Quantitative Fluorescent-PCR Detection of Sex Chromosome Aneuploidies and AZF Deletions\/Duplications"],"prefix":"10.1177","volume":"12","author":[{"given":"Toso","family":"Plaseski","sequence":"first","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology","place":["Republic of Macedonia"]},{"name":"Faculty of Medicine","place":["Republic of Macedonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Predrag","family":"Noveski","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology","place":["Republic of Macedonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Trivodalieva","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology","place":["Republic of Macedonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgi D.","family":"Efremov","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology","place":["Republic of Macedonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dijana","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Engineering and Biotechnology","place":["Republic of Macedonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2008,12,15]]},"container-title":["Genetic Testing"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gte.2008.0068","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gte.2008.0068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:18Z","timestamp":1777447278000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gte.2008.0068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,1]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,12,1]]}},"alternative-id":["10.1089\/gte.2008.0068"],"URL":"https:\/\/doi.org\/10.1089\/gte.2008.0068","relation":{},"ISSN":["1090-6576","1557-7473"],"issn-type":[{"value":"1090-6576","type":"print"},{"value":"1557-7473","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,1]]}}}