title: Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction.
abstract: Azoospermia factor (AZF) genes on the long arm of the human Y chromosome are involved in spermatogenesis, and microdeletions in the AZF region have been recognised to be the second major genetic cause of spermatogenetic failure resulting in male infertility. While screening for these microdeletions can avoid unnecessary medical and surgical treatments, current methods are generally time-consuming. Therefore, we established a new method to detect and analyse microdeletions in the AZF region quickly, safely and efficiently. In total, 1,808 patients with spermatogenetic failure were recruited from three hospitals in southern China, of which 600 patients were randomly selected for screening for Y chromosome microdeletions in AZF regions employing real-time polymerase chain reaction with a TaqMan probe. In our study, of 1,808 infertile patients, 150 (8.3%) were found to bear microdeletions in the Y chromosome using multiplex PCR, while no deletions were found in the controls. Among the AZF deletions detected, two were in AZFa, three in AZFb, 35 in AZFc, three in AZFb+c and two in AZFa+b+c. Our method is fast-it permits the scanning of DNA from a patient in one and a half hours-and reliable, minimising the risk of cross-contamination and false-positive and false-negative results.
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Laboratory of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, China.|Center of Reproductive Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: X-B
authors.initials: XB
authors.lastname: Zhu
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Laboratory of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Y-H
authors.initials: YH
authors.lastname: Gong
authors.affiliation: Genetic Diagnosis Center, Medical Faculty of Kunming University of Science and Technology, Kunming, China.
authors.forename: J
authors.initials: J
authors.lastname: He
authors.affiliation: Tellgen Corporation, Shanghai, China.
authors.forename: A-L
authors.initials: AL
authors.lastname: Guo
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Laboratory of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: E-L
authors.initials: EL
authors.lastname: Zhi
authors.affiliation: Tellgen Corporation, Shanghai, China.
authors.forename: J-E
authors.initials: JE
authors.lastname: Yao
authors.affiliation: Genetic Diagnosis Center, Medical Faculty of Kunming University of Science and Technology, Kunming, China.
authors.forename: B-S
authors.initials: BS
authors.lastname: Zhu
authors.affiliation: Center of Reproductive Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: A-J
authors.initials: AJ
authors.lastname: Zhang
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Laboratory of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Li
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D002681:China; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D060888:Real-Time Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics
chemical_list: D004247:DNA
keywords: Y chromosome; male infertility; microdeletion; real-time PCR