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Screening for y chromosome microdeletions in idiopathic and nonidiopathic infertile men with varicocele and cryptorchidism

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中华医学杂志(英文版) 2005年第17期000卷 56-61页

作者： SONG Ning-hong, WU Hong-fei, ZHANG Wei, ZHUO Zuo-min, QIAN Li-xing, HUA Li-xing, GUO Lin and FENG Ning-hanDepartment of Urology, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, ChinaKey Laboratory of Reproductive Medicine of Jiangsu Province,Nanjing Medical University, Nanjing 210029, ChinaModel Animal Research Center, Nanjing University, Nanjing210032, China Department of Urology First Affiliated Hospital Nanjing Medical University Nanjing 210029 China Key Laboratory of Reproductive Medicine of Jiangsu Province Nanjing Medical University Nanjing 210029 China Model Animal Research Center Nanjing University Nanjing 210032 China

Background Cytogenetic and molecular studies of azoospermic and oligozoospermic males have suggested thepresence of azoospermia factors (AZF) in the y *** in AZF regions has been reported todisrupt spermatogenesis and cause *** candidate genes responsible for spermatogenesis have beenidentified in this region and some of them are thought to be functional in human *** wereported clinical and molecular studies of ychromosome microdeletions in *** study aimed atassessingthe frequency of microdeletions in Chinese men with idiopathic and nonidiopathic infertility problems anddicussing the clinical significance of the AZF *** In this study, we screened 143 infertile men (62 with idiopathic infertilitas and 81 withnonidiopathic infertilitas), in whom karyotype, sperm count, hormonal parameters and fine needle aspirationcytology were *** DNA was extracted from the peripheral *** analysis wasperformed by two multiplexpolymerase chain reactions (PCR) using a set of a sequence tagged sites (STS) from3 different regions of the y chromosome: AZFa (sy84, sy86), AZFb (sy127, sy134), AZFc (sy254,sy255).Results Nineteen point four percent of idiopathic males (12/62, 19.4%) had microdeletions of either theAZFa, AZFb, AZFc or AZFb +c ***, a high frequency of microdeletions (9/81, 11.1%) wasfound in nonidiopathic patients with varicocele and *** deletions were found in healthy *** were no significant differences in the localization and extent of deletions between idiopathic andnonidiopathic *** The knowledge of the presence of these deletions in idiopathic and nonidiopathic cases isimportant to understand the prognosis, better management and counsel these patients ***,a more extended screening for y chromosome microdeletions in idiopathic and nonidiopathic men, particularlycandidates for intracytoplasmic sper

关键词： y chromosome · microdeletions · multiplex polymerase chain reaction · male infertility

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